Taysha Gene Therapies Statement on Covid-19 Vaccines
March 27, 2021
We are aware of concerns about the adenovirus vector COVID-19 vaccine from Johnson & Johnson (J&J) and its potential impact on eligibility to receive an investigational gene therapy in the future; however, available evidence suggests that receiving the J&J COVID-19 vaccine will not disqualify an individual from participation in any…
Novartis OAV201 Update
February 9, 2021
Dear families and supporters, We want to share with you the update below from Novartis Gene Therapies regarding their gene replacement program for Rett Syndrome, OAV201. Novartis reports that they continue working closely with the FDA to progress to an Investigational New Drug (IND) application, which they plan to submit…
Cocktails for a Cure: A fun, social way to raise funds for the research during the pandemic and beyond!
January 28, 2021
In 2020, with tremendous thanks to the Rett families that fundraise for us, RSRT successfully completed its $33 million strategic research plan, Roadmap to a Cure. This plan was aptly named. It resulted, literally, in a roadmap to guide RSRT and its funded researchers to a cure. When Roadmap launched…
Imagine Revolutionizing Your Child’s Clinical Care – Introducing the Rett Syndrome Global Registry
October 27, 2020
Who do you think are the world’s leading experts on Rett Syndrome? Geneticists? Neuroscientists? Neurologists? You’re right. They’re all experts. But there’s one group of very important experts that may not come to mind right away — YOU! Parents and caregivers are most assuredly experts on Rett Syndrome, and in…
Speechless. For Rett.
September 22, 2020
October awareness month is right around the corner. Recognizing that funding drives the crucial research that will change our children’s lives we are excited to announce our AWARENESS and ACTION campaign: Speechless. For Rett. Amongst the many challenges that Rett inflicts on our children perhaps the most difficult is the…
The Next Phase of Our Attack on Rett: CURE 360
September 9, 2020
A cure for Rett Syndrome. You want it. I want it. More than anything. So how is the Rett Syndrome Research Trust (RSRT) accomplishing this most ambitious goal? Founded on scientific knowledge generated over many years, in early 2017 RSRT launched a three-year, $33 million research plan, Roadmap to a…
AveXis/Novartis Statement on AVXS-201
August 21, 2020
Dear families and supporters, We are excited to share the statement below from AveXis/Novartis regarding their AVXS-201 gene therapy program for Rett Syndrome. The statement assures the community that AveXis/Novartis is fully committed to this program, that preclinical studies are mostly complete, and that they will be working with the…
It Will Consume Your Life: 4 Families Take on Rare Diseases
July 7, 2020
Our executive director, Monica Coenraads, and her daughter are featured on the front page of the NYT science section.
Enhancing the Potential Impact of Gene Therapy
June 28, 2020
The pace of scientific advance is rapidly enabling development of treatments targeting the core cause of Rett Syndrome – the deficiency of MeCP2 protein resulting from mutations in the MECP2 gene. RSRT is funding multiple development programs that correct this deficiency and make it possible to realistically envision development of…
Fundraising in the Time of COVID-19
June 9, 2020
As you’d expect in these times of social distancing and economic uncertainty, and as is the case for so many non-profits, RSRT’s fundraising is down. Holding real time events, our leading source of donations, is out of the question right now. Everyone’s safety and health are of paramount importance. Six…
Mutations Fighting Mutations
May 6, 2020
In a new study, mouse #895, also known as Henry the 8th, outlived most other models of Rett Syndrome by years. Another mouse, Fred Astaire, was slim and agile, with a good neurological score. Bruiser was brawny with good muscle tone. All of these mice were missing MECP2, the gene…
The Power of Three
April 17, 2020
One day, Michael Greenberg was pondering the many unanswered questions about how the MeCP2 protein malfunctions in the brain to cause Rett Syndrome, an autism spectrum disorder that afflicts 1 in 10,000 girls and much more rarely in boys. “MeCP2 was proving to be more difficult than anything I had…
Rett Research in a Time of Crisis
April 2, 2020
Dear Fellow Families, The events of the past several months have magnified how small our world is, how interconnected we all are, and how pivotal science is to our health and daily lives. I hope that each of you reading this, and your loved ones, are in good health and…
Biomarkers – What are they and why do we need them?
February 25, 2020
As more and more therapeutic development programs advance from basic scientific research into clinical trials in humans, our conversations with therapeutic development partners have also advanced. Once a company decides there is sufficient scientific evidence to assess efficacy in humans, the focus immediately shifts toward defining the key elements necessary…
The Launch of a New Partnership
February 25, 2020
I have had the privilege of working with the Rett Syndrome Research Trust (RSRT) for the past six years as a senior researcher in the lab of Dr. Gail Mandel. My focus over that time has been to test strategies to determine if we can repair the mutations that cause…
Can Food be Medicine?
January 28, 2020
As we all know gut issues are common in Rett Syndrome and are often difficult to manage. Furthermore, evidence is emerging that gut health in general can contribute to symptoms in various diseases. To try to better understand the role of gut health in Rett and provide dietary interventions that…
Exciting News for the MECP2 Duplication Syndrome Community
January 14, 2020
RSRT has made it a priority to fund research not only on Rett Syndrome but also on MECP2 Duplication Syndrome. Duplication Syndrome is the inverse of Rett: it results in the body producing too much of the MECP2 protein, where Rett results in too little of the same protein. In…
New Insight Into How MeCP2 Regulates Transcription
January 13, 2020
Since our previous blog post on the RSRT website, we have made significant progress toward understanding an important function of MeCP2: how it regulates gene transcription. We wanted to share this exciting new research with the RSRT community. We hope and expect that this research, which is funded by RSRT…
Prime Time
November 30, 2019
“Go big or go home” is a phrase I often use when describing RSRT’s research philosophy. Our goal, as many of you know, is to attack Rett Syndrome at its very core: MECP2 mutations. There are a number of ways to achieve this. Traditional gene therapy, or “gene replacement” as…
Pride (In the Name Of Love)
November 15, 2019
I feel very lucky that in my role at RSRT I get to talk and meet with a lot of families that have a child with Rett Syndrome. Every time I have a conversation with these fellow parents I learn something new and am inspired by their strength and by…
Awareness is Not Enough
October 10, 2019
I’ll let you in on a secret. I’m not a big fan of Rett awareness month. I think it’s because I’ve never really understood the goal of awareness. Is it to make sure that as many people as possible know what Rett Syndrome is, or is it to raise research…
AveXis/Novartis Release Statement on AVXS-201
August 22, 2019
Our community has been anxiously awaiting news from AveXis/Novartis regarding the start of the clinical trial testing AVXS-201, a gene therapy product for Rett Syndrome. We now have answers regarding why the trial has not yet started. Below please see a Rett Community Statement issued by AveXis/Novartis as well as…
Biosensors and the Future of Rett Therapeutics
August 14, 2019
Rett Syndrome, like many other neurological disorders, relies on the interpretation of symptoms by others – typically parents and clinicians, through questionnaires and interviews. This is standard for the field whether in clinical practice or clinical trials. And like other neurological disorders, Rett Syndrome suffers the inconvenience of not having…
Harnessing Exosomes as a Therapeutic for Rett Syndrome
August 10, 2019
I am a scientist at Scripps Research Institute in La Jolla, California working in the lab of Professor Hollis Cline. A thirst for knowledge is what originally attracted me to science. The potential to contribute, even in a small way, to alleviating suffering drives that thirst and passion even more….
New Drugs Restore Brain Balance to Treat Rett Syndrome
August 2, 2019
The ultimate goal of Rett syndrome research is to find a cure. Researchers, patients with Rett syndrome and their families alike look forward to a day when a drug or gene therapy can totally reverse the symptoms of Rett syndrome. Informed by the wealth of insights from preclinical research, drug…
If Not Us, Who?
July 20, 2019
$26,019,402 That’s the amount that has been raised so far towards our Roadmap to a Cure goal of $33 million. That puts us just shy of 80% to the goal. To say I’m grateful to the 600 plus families who fundraise for RSRT and got us to this point would…
My First 9 Months at RSRT
July 3, 2019
The past 9 months since joining RSRT have been amongst the most exciting of my professional career. Never in the history of life sciences has the development of scientific technologies that can benefit individuals with Rett been so rapid. In my role as RSRT’s Chief Scientific Officer, ensuring that these…
Making Sense of it All
June 5, 2019
We live in a world of instant access to information. This is true not only for world, national and local news but also Rett news. On a daily basis our inboxes and social media accounts are flooded with all sorts of alerts, announcements, press releases, analyses and more. It can…
A Big Step for Gene Therapy
June 1, 2019
This past Friday started off bright and early with the sound of rushing water in my basement….never a good sound. The water heater emergency pressure valve had released. Thank goodness I was in the kitchen when it happened and heard the water. I quickly turned off the water supply, and…
Ketamine Clinical Trial for Rett Syndrome Launches
March 13, 2019
You may have heard about a clinical trial testing ketamine in Rett Syndrome. We’re excited to be leading this important study and really asking in an unbiased way if ketamine can improve the symptoms of Rett Syndrome. Ketamine is an old drug and has been studied in all kinds of…
On the Shoulders of Giants
January 24, 2019
2019 started with the exciting announcement that our 2018 research awards totaled $10 million! We take our hats off to the hundreds of Rett families who put their urgency and passion to work raising funds and to our colleague, Tim Freeman, who leads this impressive effort. Although we personally are…
Three Stars and
Prouder than Ever
January 17, 2019
I’m proud to say that RSRT once again received a three-star rating from Charity Navigator, the organization that assesses the transparency, financial health, and efficiency of non-profits. The “top” rating is four stars. You might say to me—Tim, are you sure you should be so proud to have three stars…
What’s Making MeCP2 Toxic in Duplication Syndrome?
January 14, 2019
I’m a post-doc in the lab of Adrian Bird. The lab has historically studied MeCP2 in the context of Rett Syndrome – but now we are using everything we’ve discovered about MeCP2 to also better understand its role in MECP2 Duplication Syndrome (MDS). Professor Bird discovered MeCP2 in the early…
Rett Superheroes
January 4, 2019
We launched Roadmap to a Cure, RSRT’s three-year $33 million strategic research plan, in March of 2017. We’re now 21 months into the 36-month period, 60% through the timeframe. I’m excited to report that as of January 1 we’ve raised almost $24 million towards the goal. That’s 73% of the…
World-Class Team Takes on Next Gen Gene Therapy
December 13, 2018
RSRT first started funding gene therapy efforts in 2010 with a collaboration between Gail Mandel, PhD and Brian Kaspar, PhD. That collaboration led to our original Gene Therapy Consortium that launched in 2014 with the inclusion of Steve Gray, PhD and Stuart Cobb,PhD. The Consortium worked through numerous challenges involving vector optimization…
New Method Developed to Study MeCP2 Function in Humans
November 19, 2018
We wanted to share with the RSRT community a little about a new method we’re using to gain a better understanding of how the MECP2 protein functions. Our expectation is that this research, which is funded by RSRT and the NIH, will help guide approaches to therapeutics that will hopefully…
Talk To Your Doctors
November 14, 2018
If your daughter (or son) is approaching 18 years old, there are a couple of matters that you must handle. While most people know that when our children turn 18 years of age, they are no longer ours, but they are their own person. For me, that meant working with…
What Does it Take to Run a Clinical Trial?
November 6, 2018
Ever wondered how easy or hard it might be to run a clinical trial, or what researchers have to do to be able to run a study? Here we’ll outline some key differences between an academic study and an FDA-regulated study, and talk about our own ketamine clinical trial planned…
UPDATE: AVXS-201 Gene Therapy for Rett Status
October 31, 2018
The entire Rett community celebrated on May 3 of this year when AveXis formally announced plans to submit the IND application for AVXS-201 for Rett syndrome in late 2018/early 2019. We all then held our breath on May 15 when Novartis purchased AveXis for $8.7 billion, wondering whether Novartis would…
Moving the Needle
October 29, 2018
I have always enjoyed the creative process. In my younger days, I was fond of cooking, which was not always sanctioned as an appropriate activity for a young boy in that era of our society. As I moved forward with my high school education, I had an intense interest in…
Confessions of a Novice Event Planner
October 23, 2018
Let me start by disclosing that I am not an event planner nor am I experienced in the world of fundraising or social advocacy. I am a psychologist, an introvert, a dreamer, a neophyte on social media, and most importantly, I am a mom. Before reaching out to RSRT, I…
The Future is Now
August 7, 2018
The DNA double-helix was first postulated to be the building blocks of life by Watson and Crick in a seminal paper in 1953. Their discovery spawned a revolution in molecular biology in the 65 years that have followed, and led to the understanding of human biology, human disease and our…
We’re in This Together
June 12, 2018
Last March we announced an ambitious goal at RSRT to raise $33 million over three years to support our strategic research plan, Roadmap to a Cure. This is no arbitrary goal. Every dollar correlates with a research budget that aggressively moves the needle on potentially curative approaches. I’m excited and…
Meeting of the Minds
June 7, 2018
Most scientific meetings strive to inform the audience on the state of the field by presenting data in a consolidated manner, maximizing speaker time often at the expense of discussion time. Separating clinical and scientific sessions is common. This year, when planning our Investigator Meeting in Boston on May 21…
Unapologetically Going for the Cure
April 30, 2018
A recent article entitled “A perspective on “cure” for Rett syndrome” authored by a British clinician, Angus Clarke and Ana Paula Abdala Sheikh has sparked differing reactions from Rett families as well as several Rett organizations. Our partners in the UK, Reverse Rett, wrote an open letter to the authors…
Preparing for a Clinical Trial
April 27, 2018
As the third blog in a series introducing drug development, I am thrilled to be discussing participation in a clinical trial. Clinical trials are the only way to get new treatments to market and choosing whether or not to participate in a trial is a significant decision. As you can…
Igniting Hope
April 13, 2018
The days and months after we received the Rett Syndrome diagnosis for our young daughter, Natalie, were the darkest of our lives. There were times that the grief felt insurmountable, that we’d spend the rest of our lives in this shroud of hopelessness. We kept this mostly to ourselves, save…
Scientists are thinking the unthinkable: CRISPR might one day reverse devastating brain diseases
April 10, 2018
Monica Coenraads’ daughter has never spoken since she blurted out “duck!” while taking a bath soon before her first birthday, and has never walked. Chelsea lost the ability to hold her sippy cup and stopped responding when Coenraads played “can you touch your nose?” She cannot use her hands, and…
Novartis to Acquire AveXis
April 9, 2018
AveXis announced today that it has entered into an agreement to be acquired by the pharmaceutical company, Novartis. Highlights of the announcement follow: The proposed purchase includes AveXis’ lead compound for SMA as well as the pipeline programs for Rett Syndrome and ALS. The Rett program, AVXS-201, continues full steam…
Drug Development Is Cheap And Easy, Said No One Ever
March 15, 2018
The AveXis announcement ushers in a new and exciting era of clinical trials that attack the root cause of Rett Syndrome. Without a lot of precedent with gene therapy just yet, it’s hard to know what FDA will require and what the development timelines will look like. In my last…
Making It Count
March 12, 2018
I’ve blogged about how RSRT solicits and reviews proposals. But what happens once an award is made? For most funding organizations making the award is the last step in the process. The MO (modus operandi) is “congratulations on the award, good luck and send us a report in a year…
Home Team Advantage
March 9, 2018
I’m not a big football fan, but I admit I got caught up in the Eagles’ recent win. I grew up in a suburb of Philadelphia and I still live in the area, so how could I not? They’re my home team. (Apologies to Pats fans.) It got me thinking…
A Rigorous Peer Review: Why You Should Care
March 6, 2018
Peer review, it’s a term you’ve probably heard numerous times. But what exactly is it? As the name implies, peer review is the evaluation of work by others in the same field as a means to ensure high quality standards. Two main examples are: 1) peer review used by the…
Vision and Guts
March 4, 2018
Our recent announcement that AveXis is planning to initiate a gene therapy clinical trial within a year (pending FDA approval) is exciting and worthy of celebration. Getting us to this point took years of hard work and millions of dollars raised and thoughtfully awarded. It is truly a moment worthy…
AveXis Reports on Rett Gene Therapy Program: AVXS-201
February 28, 2018
AveXis Reports on the Rett Syndrome Gene Therapy Program – Clinical Trial Likely to Start Within a Year In June of 2017 AveXis announced that based on encouraging data generated by RSRT’s Gene Therapy Consortium it would advance the lead MECP2 gene therapy candidate toward clinical trials. Yesterday the company…
Funding Collaboration Not Competition
February 26, 2018
Andrew Carnegie, the 19th century business magnate and philanthropist, once said, “It is more difficult to give money away intelligently than to earn it in the first place”. I wholeheartedly agree and here’s why. Making wise and effective funding decisions requires a rigorous process and unwavering attention on multiple fronts:…
The Road to FDA Approval
February 7, 2018
First, what is the FDA and what do they do? Many people assume that the FDA develops treatments, or that they choose treatments or indications for development, but that’s not true. They do not develop treatments, they do not fund treatment development, and they do not choose the patient groups…
Is a Cure for Rett Really Around the Corner?
January 31, 2018
I’m a stickler for accuracy. I always have been. So I confess to being a tad uncomfortable when I see posts, videos, or comments saying, “A cure for Rett is right around the corner”. It is my belief, that of our Chief Scientific Officer, Dr. Randy Carpenter, and our scientific…
The Man Behind the Brand
January 20, 2018
Hi there! A few of you reading this may know me from working on projects together but I’m sure many of you have no idea who I am or what it is that I do so I’m taking this opportunity to introduce myself and let you know what I do…
Inspired by You
January 12, 2018
I’ve always been drawn to human diseases and genetics. When I first really learned genetics in school, I was completely fascinated and excited by the fact that we had identified and begun to decipher the instructions for human cells. We were holding the keys to cellular function, health, and ultimately…
$14,230,348 and 2 cents
December 21, 2017
That’s the total that has been contributed so far in donations and pledges towards our three-year goal of $33 million, which is the amount that RSRT needs to carry out its strategic research plan, Roadmap to a Cure. Those funds represent the generosity and compassion of 11,167 individual and family…
Preparing for Gene Therapy Trials
November 17, 2017
A lot has happened in the six months since publication of our Gene Therapy Primer. Notably, two gene therapies have been approved by the FDA (the first ever gene therapy approvals in the US) and a third has received a unanimous recommendation for approval from a panel of FDA advisors….
Breakthrough Discoveries for DNA & RNA Editing
November 8, 2017
It’s been an exciting several weeks for the field of RNA and DNA editing. Three days after Gail Mandel’s team published their manuscript highlighted in a recent blog, “Editing out Rett Mutations,” researchers at MIT and Harvard also published manuscripts describing alternative methods similarly capable of correcting point mutations that…
Editing Out Rett Mutations
October 26, 2017
Until we know what form the Rett cure will take it’s critical to pursue multiple strategies in parallel. So, in addition to providing the funding for the development of the first generation gene therapy for Rett Syndrome, now being pursued by AveXis, RSRT has also supported the parallel development of…
RettGive: Easy, Impactful, Empowering
October 23, 2017
I’m not the most tech-savvy person. My wife makes fun of me for fumbling with the TV remote, and my RSRT colleagues have probably good-naturedly rolled their eyes once or twice at my tech-related questions. So when we developed RSRT’s crowdfunding platform, RettGive, I was a little nervous about how…
Bridging the Divide
October 11, 2017
We’ve known for almost two decades that mutations in the MECP2 gene and its corresponding protein, MeCP2, cause Rett Syndrome. During this time a variety of biological functions have been attributed to the MeCP2 protein, but with no clear evidence for how these various functions relate to Rett Syndrome. Years…
October: Rett Awareness and So Much More
October 10, 2017
I think most of us Rett parents compartmentalize our life events according to “pre-Rett” and “post-Rett”, I know I do. In my “post-Rett” life October carries significant importance. First and foremost my daughter Chelsea was born in October of 1996. October 10th to be exact. Today she turns 21 years…
How Rett Changed a Granddad
October 4, 2017
Like other grandparents who faced a diagnosis of Rett Syndrome, I was initially devastated. My granddaughter Magnolia would not have the life I dreamed for her. I wouldn’t see her walk down an aisle or celebrate those typical life events most grandparents get to savor. The impact on my son,…
Roadmap Update: Jaenisch Lab Award
September 20, 2017
In March of this year we announced our strategic research plan, Roadmap to a Cure, the cornerstone of which is four therapeutic approaches that we are undertaking in pursuit of a cure for Rett: gene therapy, MECP2 Reactivation, RNA editing/splicing, and protein replacement. Today’s announcement focuses on MECP2 Reactivation. A…
Twice the Heartache…Twice the Love
September 9, 2017
I have a soft spot for Rett grandparents. Having witnessed my own parents come to terms with Chelsea’s diagnosis I saw firsthand just how painful and raw that journey was. In a sense grandparents bear twice the pain that parents do. They ache for their children and they ache again…
Marlowe’s Web
September 7, 2017
We all have those moments when Rett seems to take over our girls completely. It gets intense and scary. That moment when you aren’t sure if you want to scream out in rage or sit in the corner and ball your eyes out. It was at that moment where our…
The Rollercoaster of Rett
August 31, 2017
Being a special needs parent is a rollercoaster filled with highs and lows, love and heartbreak, blessings beyond measure and so much more. You find yourself flooded with emotions you never knew you would have, such as jealousy of other parents, panic of not researching enough for your child and…
2016: A Year in Review
July 19, 2017
Thanks to our almost 9,000 donors we raised a record amount in 2016. We’re putting that money to work on behalf of everyone struggling with Rett Syndrome and related MECP2 disorders. We invite you to view our infographic. Thank you to all our supporters! You can also download the infographic here. …
What About Us?
July 12, 2017
It’s been almost two decades since the discovery that alterations in MECP2 cause Rett Syndrome. However, the diagnosis of Rett remains a clinical one based on a child’s symptoms and history. While a positive MECP2 genetic test confirms the diagnosis, it is not required. This creates a situation where individuals can…
Finding the Words
June 26, 2017
I told my daughter, Eleanor, the news. I had just put her in bed for the night. Her arms had stopped moving and she was breathing quietly. She stared into my eyes with that intense look that only the parents of a daughter with Rett Syndrome can understand—intelligent, lucid, expressive…
Precision Medicine
June 19, 2017
Mutations in a single gene, MECP2, can be identified in the vast majority of individuals with Rett Syndrome, yet each person is unique. As in any disease, treatments such as seizure or anxiety medications can be very successful for some individuals but not for others, even for those with the…
AveXis Announcement – Delivering on Roadmap to a Cure
June 8, 2017
The recent announcement that the gene therapy biotech company, AveXis, is advancing the program generated by RSRT’s Gene Therapy Consortium is the most exciting news since Adrian Bird’s reversal paper a decade ago. First and foremost the future gene therapy clinical trial will be the first ever that addresses the…
Gene Therapy Consortium Reports on Progress
May 15, 2017
We are excited to report to the Rett Syndrome community and to everyone who cares about an afflicted family on recent progress made by RSRT’s Gene Therapy Consortium. As you may know, Rett Syndrome is caused by spontaneous mutations in the MECP2 gene that prevents the production of healthy MeCP2…
Gene Therapy Primer
May 10, 2017
Gene therapy is the lead program of our three-year strategic plan, Roadmap to a Cure. This potential one-time treatment, which targets Rett at its very root, has produced dramatic results in mouse models of the disease, more so, by far, than any other drug treatment studied thus far. Let’s review…
Racing Down The Gene Therapy Highway To A Cure
April 25, 2017
RSRT has announced Roadmap to a Cure, a 3-year research plan featuring gene therapy as the lead program. Gene therapy fixes the cause of a genetic disorder instead of alleviating the symptoms, essentially representing a cure. The theory is simple – replace defective genes with healthy copies. However, it is…
Orphan Drug Designation: What Does it Mean?
March 30, 2017
Background In the early 1980s, few drugs were being developed for rare diseases as the small number of patients made it difficult for companies to recoup the costs of drug development, let alone make a profit. With an estimated 7,000 rare diseases affecting 25-30 million Americans, Congress determined that laws…
New Insight Into MECP2 Mutation Hotspot
March 28, 2017
Rett syndrome-causing missense mutations cluster in two regions of MECP2. One of these regions – the methyl-CpG binding domain (MBD) – has been extensively characterized and helps MeCP2 bind DNA. The other region is called the NCoR/SMRT interaction domain (NID) and recruits a gene-silencing complex, but its function has remained comparatively…
Roadmap to a Cure FAQ
March 24, 2017
We’ve tried to anticipate some of the questions that families will have about Roadmap to a Cure. What if you don’t raise the full $33 million? Failure is not an option. We simply must raise the full amount. In fact, there are a number of other worthy efforts that merit…
RSRT Awards $7.5 Million to Research in 2016
March 17, 2017
RSRT was launched in 2008, in the wake of Adrian Bird’s remarkable reversal experiment. Our mission has always been a cure, not an improvement of some degree in a symptom or two… an all-out cure. Our 2016 awards, totaling $7.5 million, reflect our mission. RESEARCH AWARDED BY YEAR: Over $2…
Key Questions to Ask When Considering Clinical Trials
February 28, 2017
We live in exciting times. It seems like almost every day, breakthrough scientific discoveries provide novel insights that could result in new and better ways to treat your children. These advances are clear signs of progress and reasons for optimism. Companies are leveraging these scientific insights to initiate clinical trials…
Awaken and Activate the Mighty X Chromosome
February 2, 2017
Did you know an extra copy of MECP2 sleeps within each of our cells? Females have two X chromosomes (XX), while males only have one (XY). In healthy females, a phenomenon called X inactivation randomly shuts off one X chromosome in order to avoid twice as much product from X-linked…
Of Mice and Rett: Novel Therapeutics & Community Support
January 27, 2017
You — the parents, grandparents, and families of children with Rett Syndrome — know more than anyone the devastation that Rett brings and the frustration of not having medications to address the onslaught of symptoms your child faces every day. While I don’t have a child with Rett, I am…
Small Town, Big Heart
January 4, 2017
Hi everyone, so this is my very first blog! Ugh, Rett Syndrome! So after going through day-to-day life with Rett syndrome, you sit back and think, well now what? Do we just sit here and wait for a cure? For our family, sitting back and doing nothing wasn’t an option. We…
The Joy and Ache of the Holidays
December 20, 2016
I want to join Monica and our trustees and staff in saying how hugely grateful we are at RSRT for support from so many people. From families that spearhead events, to parents and others who do RettGive campaigns, to state and international Rett organizations and those who work so hard…
Rare Disease Drug Approval Sparks Controversy
December 14, 2016
New hope for a devastating disease? Dangerous precedent for the FDA? Reactions are polarized to the approval of the new Duchenne muscular dystrophy drug, Exondys 51. Some believe the FDA lowered its standards and caved to pressure from advocacy groups to approve an expensive drug that lacks convincing efficacy data….
The Phone Call
December 13, 2016
Our precious daughter, Zoey, was diagnosed with Rett Syndrome on May 13, 2016 at 21 months of age. Although we knew something had to be causing all of her delays and slow progress, we were absolutely devastated by the news that it was something as debilitating as Rett. At our…
Gene Editing Shows Potential for Treating Genetic Diseases Like Rett
December 6, 2016
One of the hottest emerging approaches to altering or correcting defective disease-causing genes is called CRISPR/Cas9. In fact, the first human study for CRISPR/Cas9 – a trial for a potential cancer therapy – is being planned by a collaboration of investigators at the University of Pennsylvania and other research centers. The technology…
RettGive Spotlight: A Father’s Day & Birthday
November 27, 2016
Ever since our daughter Ema was diagnosed, we always wanted to do our part to raise funds for the Rett Syndrome Research Trust, with the ultimate goal of helping to find a cure for Ema and the hundreds of thousands of girls like her. We’ve always had great admiration and…
Event Spotlight: Happy Hour to Help End Rett
October 28, 2016
I met Shawn and Kristen Connor and their beautiful daughter, Brynn, over three years ago. Brynn had recently been diagnosed with Rett, so it was a difficult time for them. I know firsthand the shock and fear that come with a diagnosis, and I saw the devastation in their eyes….
Rett Syndrome Awareness Month 2016
October 7, 2016
Rett Syndrome Awareness Month is here! It’s important to spread the word about what Rett is and what causes it; how strong and amazing our daughters, granddaughters, sisters, and nieces who struggle with Rett and related disorders are (although very rare, boys can also have Rett and they and their…
What the Chan Zuckerberg Initiative Means for Rett Research
September 27, 2016
My inbox flooded with emails this past Wednesday following the announcement of the Chan Zuckerberg Initiative. Facebook founder, Mark Zuckerberg and his wife Priscilla, will be investing $3 billion over the next decade (and more billions after that) to help cure, prevent, or manage all disease. But wait…the news gets…
A Quick Look Back and a Major Look Forward
September 26, 2016
RSRT launched eight years ago yesterday. Anniversaries can be an opportunity to look back at accomplishments, but also to define where and how we move forward. We have come a long way in these eight years. Rett research is in a much more promising and exciting place than it was…
Mortgaging the House
August 18, 2016
Last week RSRT posted on Facebook an article about a gene therapy treatment for “bubble boy disease” commercialized by GlaxoSmithKline (GSK). The one-time treatment is priced at $665,000 and interestingly comes with a money-back guarantee. If the treatment doesn’t work as promised, you (or insurance companies) get your money back….
Deep Brain Stimulation: Next Steps
August 10, 2016
In previous work we did together with Dr. Jianrong Tang at our institute, we learned that deep brain stimulation (DBS) could reverse certain neurological deficits (hippocampal learning and memory, plasticity and neurogenesis) in a mouse model of Rett syndrome. The recent discovery that DBS corrects the abnormal circuit defect of…
Deep Brain Stimulation and MECP2
August 4, 2016
Last year saw the exciting report that deep brain stimulation, a technique in which electrical impulses are delivered to specific centers in the brain, was effective in reversing impaired learning and memory in Rett syndrome mice. Deep brain stimulation is a surgical technique that is now being used in a…
Ask Gaby: Episode 1
August 2, 2016
We believe all girls and women with Rett have vibrant minds, but the disorder robs them of the ability to express themselves. One young woman, Gaby Valner, has been very fortunate to have retained more skills than most. With tremendous effort, she is able to type her thoughts and ideas. Gaby uses…
Results of Copaxone Open Label Trial
August 1, 2016
Results from an RSRT funded clinical trial testing the drug copaxone (glatiramer acetate) in 10 children with Rett Syndrome were recently published by Dr. Sasha Djukic, director of the Tri State Rett Syndrome Center in the Bronx, in the journal Pediatric Neurology. Copaxone, an injectable drug used for multiple sclerosis,…
Rett Give: Are You In?
July 27, 2016
Since it was launched last month, RettGive, RSRT’s new crowdfunding platform, has resulted in more than $60,000 contributed to research. Thirteen families from around the U.S. and the world have started campaigns. I’d like to thank these families for taking action. Beyond raising critical funds for the research, these campaigns also…
The Boys of Rett
July 26, 2016
While it’s true that Rett Syndrome is mainly a girls’ disorder, it’s not true that boys can’t have it. In fact, those of us active on Facebook have probably noticed an increasing number of parents whose boys have been diagnosed with Rett. I suspect it has to be especially hard…
Alba Tull Joins RSRT Board of Trustees – Press Release
July 25, 2016
We’re pleased to announce that Alba Tull has joined our Board of Trustees. Additionally, The Tull Family Foundation, the funding agency of Alba and her husband, has pledged a gift of $500,000 to RSRT. Inspired by a friend’s two-year-old daughter who was diagnosed with Rett, Alba was moved to help RSRT in its…
Ask Dr. Carpenter: Episode 1
July 20, 2016
On July 11th we solicited questions on our blog for our Chief Scientific Officer, Randy Carpenter. A number of parents asked questions about their daughters’ symptoms and medications. Please note that Dr. Carpenter is not a Rett clinician and is not able to give medical advice on the website. Responses…
Ask Dr. Carpenter
July 11, 2016
RSRT’s Chief Scientific Officer, Randy Carpenter, has been on the job for just over 4 months. During this time he has immersed himself in everything Rett doing a lot of reading, traveling and meeting with the scientific and clinical community as well as industry executives. Dr. Carpenter’s background in medicine and drug…
Funding in the Pursuit of Balance
June 23, 2016
Anyone who has ever driven a car knows the importance of counterbalancing the gas and brake pedals. To function properly, our brains also require a delicate balance between excitatory (gas) and inhibitory (brake) inputs within neural circuits. Disruptions in the balance between excitation and inhibition (E/I balance) alter the connections…
First Impressions
June 20, 2016
My first three months at RSRT have been a whirlwind of immersion in the Rett community. I’ve traveled extensively meeting with clinicians, scientists, and pharmaceutical and biotechnology company executives. I’ve attended a number of RSRT meetings that have gathered together the labs attempting reactivation of MECP2, the MECP2 Consortium, and…
New Trustee Appointed
June 13, 2016
The Rett Syndrome Research Trust is pleased to announce that Brad Zelinger has been elected as a member of its Board of Trustees. Brad has been a strong and steadfast advocate and fundraiser for Rett research and RSRT. His adult sister, Marissa, suffers from Rett Syndrome. In 2015 Brad created…
If You’re Going Through Hell, Keep Going
June 8, 2016
Seven years ago, I laid on my bathroom floor and thought about never getting up again. It was one of those mornings any parent of a child with Rett Syndrome will know well; the ones where just getting everyone ready for school and out of the door demands the determination…
Crowdfunding for Rett
June 6, 2016
We’re tremendously excited by the research progress we’ve achieved through the enthusiastic support of our tenacious community. More than 50% of RSRT’s donations come to us via events that are spearheaded by affected families and their friends. We recognize however that holding events isn’t always feasible for families and loved…
Three Stars and Proud
June 3, 2016
For three years running RSRT has received a top rating of four stars from Charity Navigator, an organization that assesses the transparency, financial health, and fundraising efficiency of non-profits. RSRT has fared very well for several reasons—our low overhead (an average of 4% of our expenses are spent on administration…
The Day My World Stood Still
May 26, 2016
It started out as a pretty good summer day. Or as good as any day could be that year. I had dropped my almost 6-year-old daughter Jennifer off at day camp. I was planning a birthday party for her in three days. We would have a pool party and invite…
Attacking Rett Where it Lives | More Funding Awarded
May 24, 2016
Anyone who follows Rett research knows that the devastating disorder is caused by mutations in the MECP2 gene. The mutations then cause a poorly understood cascade of downstream effects that result in the symptoms that we associate with the disorder. All of the current clinical trials as well as the…
Mother’s Day…A Time to Bear Witness
May 7, 2016
You know the look….the look that moms of disabled kids exchange when they walk past each other. The look that says, “I understand you.“ A close friend and single mother once said to me how important it was to have someone bear witness to her daily life caring for her…
You Don’t Know Bo?
May 6, 2016
In August of 2014, at the age of two, our son Bo was diagnosed with MECP2 Duplication Syndrome. Our devastation was something I do not ever want to experience again. Our outlook quickly improved, however, when an internet search led us to The 401 Project and the RSRT MECP2 Duplication…
Professor Bird Elected to National Academy of Sciences
May 3, 2016
RSRT Trustee, Adrian P. Bird, was elected today to the prestigious National Academy of Sciences for his distinguished and continuing scientific achievements. The National Academy of Sciences is a private, non-profit society of esteemed scholars. Established by an act of Congress signed by President Abraham Lincoln in 1863, it is charged…
Gene Therapy Might be the Best, and Perhaps Only, Chance at Curing Brain Diseases
May 2, 2016
Newsweek has published an informative and easy to read article on gene therapy as treatments for brain diseases. The article focuses on the efforts and passion of one scientist in particular, Guangping Gao, from the University of Massachusetts Medical School. Guanping Gao has been a strong supporter of our gene…
Clarifying the “Vanderbilt Breakthrough Story”
April 29, 2016
On April 26th, WBRC Fox 6 News covered a story with the headline “Vanderbilt researchers announce breakthroughs treating Rett syndrome”. RSRT received an influx of emails and phone calls asking for more information. So we decided to put this short post up to efficiently answer your questions. Most people reading…
“Disease in a Dish” Platform Receives a $1 Million Influx from RSRT
April 19, 2016
Alysson Muotri has been working on Rett Syndrome for over a decade, first in the laboratory of his mentor, Fred (Rusty) Gage at the Salk Institute, and now in his own lab at University of California San Diego. Dr. Muotri is a leader in the field of induced pluripotent cells,…
Modern Family
April 5, 2016
Our local coffee shop owner My first-grade teacher Rachel’s high school French teacher Our neighbor Eleanor’s teachers and therapists Friends from high school, college, and past jobs Aunts, uncles, and cousins My car mechanic Ten other families in our area that are affected by Rett Syndrome. Is this an episode…
Educating the FDA on Breathing Problems
March 31, 2016
Breathing issues can be a very debilitating problem for individuals with Rett Syndrome. Interestingly, mice models of Rett also exhibit breathing issues very similar to affected people. The fact that breathing can be objectively measured in both people and mice is an advantage. However, the variations in hyperventilation and breath…
Human Gene Therapy Commentary | Monica Coenraads
March 29, 2016
“Monica Coenraads’ commentary in this month’s issue of Human Gene Therapy provides a brilliantly coherent summary of the current state of RSRT’s Gene Therapy efforts with profoundly moving insight into Monica’s own story; the life, love and heart that keeps driving RSRT forward. Please read and share.” – Rachael Stevenson…
YouTube Donation Cards: Every Bit Counts
March 25, 2016
I’m AJ Tesler and my daughter, Magnolia, has Rett Syndrome. Before I had ever even heard about Rett, I was a producer for a number of different YouTube networks and have created hundreds of videos for YouTube creators, networks and now for my daughter. I continue to work with YouTube…
Awakenings
March 22, 2016
Over the last few years RSRT has heard from a number of parents who reported their child with Rett had an “awakening,” or significant improvement in their Rett symptoms after receiving either sedation for a procedure or other medications. These “awakenings” lasted a few days to a week and have…
Rett Syndrome Clinic in Atlanta Launches Clinical Trial
March 15, 2016
Dr. Daniel Tarquinio, the director of the Rett Syndrome Clinic in Atlanta will soon be recruiting for a 10 person, open label trial (everyone gets the drug) testing triheptanoin. The drug, also called UX007, is a colorless oil which is broken down in the body to help fuel specific chemical…
8th Grader Inspires with Rett Fundraising
March 10, 2016
Hi, my name is Ashley Giannetti and I am in eighth grade at Convent of the Sacred Heart Greenwich, CT. This year in our theology classes we were given a project where we had to choose an important topic to us and make a difference in the world. When I…
$9 Million Awarded to Research
March 8, 2016
Today RSRT announced $9 million of research awarded in 2015. What sets these awards apart from previous years is not just the significantly increased dollar amount but also the emphasis on clinical research. This focus reflects the critical need to conduct efficient and effective clinical trials with specific measures that…
Notes from a Doting Aunt
March 3, 2016
Jason was the first-born child of my sister Marsha, and his daughter—Zoe Isabelle Rothschild—was the first-born child of that generation, so I was predisposed to fall a little bit in love with Zoe from the get-go. Riding up the elevator of the hospital to visit my niece, Rachel, the day…
A Word From Randy
March 1, 2016
Today is my first day at RSRT, and to say that I am excited would be an understatement. I have been following the Rett field for over a decade and to now have the opportunity to dedicate myself completely to this effort is something I’m really looking forward to. With…
Rett Hand Splints: What’s the Verdict?
February 25, 2016
Many of our children use hand splints to reduce stereotypies, promote proper wrist and finger positioning, encourage hand use, allow for feeding, reduce anxiety and more. As parents and caregivers, we are all searching for the perfect hand splint. We’d love to hear (and see) what works for your child….
Meet Our New CSO – Randy Carpenter
February 24, 2016
On March 1st, Randall (Randy) Carpenter joins RSRT as the Chief Scientific Officer (CSO). For years, 17 to be exact (between RSRF and RSRT), I’ve been the de facto CSO, with lots of assistance from a wide network of advisors. As the science matured, more drug targets materialized and the prospect…
Book Review: Orphan – The Quest to Save Children with Rare Genetic Disorders
February 23, 2016
Reading is a favorite pastime. I don’t have much time to read anything beyond science articles and other work-related materials. However, when Philip Reilly sent me a copy of his recent book, “Orphan, – The Quest to Save Children with Rare Genetic Disorders”, I knew I had to find the…
Rett in Review: Crossing Thresholds
February 3, 2016
Even scientists find it challenging to list and describe all the potential treatment and reversal approaches to Rett Syndrome. That’s a good thing. It means there are a lot of research approaches being taken, each attacking Rett from a different angle. Some research projects are seeking improvement of symptoms; others…
KCC2 and Rett: The Import/Export Business
January 26, 2016
The recent paper published by scientists at Penn State in collaboration with labs from the UC San Diego and the Salk Institute implicating a potentially new therapeutic direction for the treatment of Rett Syndrome has generated quite a buzz among families. It’s a potentially exciting discovery and RSRT is following…
Dear Rett: Be Afraid – Be Very Afraid
January 13, 2016
Dear Friends, Back in November I posted about how we were on pace to set a new record by breaking the $6 million mark in fundraising by the end of the year. I am thrilled, elated, excited, grateful (no word quite does it justice) to report that total contributions to…
It’s All About the Sneakers
January 12, 2016
Discussions with the pharmaceutical/biotech industry as well as the investor community always begin the same way: How can we accurately test Rett patients to know if a potential medication is working? Are there one or two measures that the Rett clinical community agrees on and that are objective, reproducible and sensitive…
The Growing Toolbox of Rett Mouse Models
January 11, 2016
Last month Adrian Bird and his lab members published a paper in the journal Human Molecular Genetics describing three new mouse models of Rett Syndrome, each of whom mimics a common human mutation. Together these three mutations represent 25% of all Rett cases. Jim Selfridge and Kyla Brown from the Bird…
Rett Researchers Gather in Boston
January 5, 2016
RSRT funds a broad scope of research from gene therapy to clinical trials to basic science. Throughout the year RSRT hosts consortium meetings and workshops that gather small groups of scientists working on a specific aspect of the disorder. However, every two to three years it’s important to bring everyone…
MECP2 Consortium Progress Report
December 23, 2015
The MECP2 Consortium, a unique collaboration comprised of the Adrian Bird, Michael Greenberg and Gail Mandel labs, launched in 2011 with the goal of figuring out the role of the MeCP2 protein. Why is this so important? Because understanding this protein and how it functions is critical to informing how…
Support RSRT While You Shop
December 15, 2015
There are several ways to support RSRT while you’re doing your holiday shopping. It doesn’t cost you anything extra and is an easy way to give back. The percentage of each purchase that goes to RSRT tends to be quite small (usually .5% to 5%). So while it’s not a substitute for…
Ketamine Trial is Recruiting
December 15, 2015
Ketamine is a drug that is often given to children for sedation or anesthesia. Experiments in animal models of Rett Syndrome suggest that low (sub-anesthetic) doses of ketamine may improve symptoms of Rett Syndrome, but whether it works in children remains unknown. Case Western Reserve University School of Medicine and…
Gene Therapy Consortium Progress Update
December 15, 2015
In mid November the members of our Gene Therapy Consortium met in Boston to share data, and engage in open and forthright discussions regarding emerging results and future strategy. Consortium members are sometimes joined by other scientists who can add fresh perspectives or expert advice. On this occasion, the consortium…
RSRT is Giving Away a Tobii C12!
December 4, 2015
We are thrilled that a refurbished Tobii c12 with CEye has been donated to RSRT. More and more girls and women with Rett and their families are using eye tracking technology like a Tobii to communicate. We wish we could give one to every family, but we just have one….
MECP2 Duplication Syndrome is Reversible
November 25, 2015
In 2007 Adrian Bird rocked the Rett world with the unexpected news that Rett symptoms in mice were dramatically reversible. With the advent of a mouse model for the MECP2 Duplication Syndrome a big question loomed – would the duplication disorder also be reversible? Today, with a paper in Nature ,…
Breaking a $6 Million Fundraising Record this Year!
November 25, 2015
Dear Friends, I don’t want to count our chickens before they’re hatched, but we’re on pace to break a fundraising record this year at RSRT. There is much to do and it’s going to take more people than ever contributing as we get near the end of the year, but we…
Einstein Magazine Feature on Rett Syndrome
November 24, 2015
Families affected by Rett Syndrome know that one of the premiere clinics in the U.S., indeed in the world, is at the Albert Einstein College of Medicine in the Bronx, NY. Its full name is a mouthful—the Rett Syndrome Center of the Children’s Hospital at Montefiore—but its focus on providing…
Deep Brain Stimulation – A Potential Therapeutic for Rett Syndrome?
October 15, 2015
A paper authored by Huda Zoghbi and Jianrong Tang at Baylor College of Medicine and published in Nature describes improvement in learning and memory paradigms in mice models of Rett after deep brain stimulation (DBS). This research was funded, in part, by RSRT. DBS is a surgical procedure that involves implanting electrodes in specific areas of…
Urological Issues in Rett
October 10, 2015
Later this month, from the 17th to the 21st, about 30,000 neuroscientists will gather in Chicago for the annual meeting of the Society for Neuroscience. There will be about 40 presentations on Rett Syndrome. Most are basic science oriented but one with clinical relevance caught our attention. We often hear…
Seven Years and Counting
September 25, 2015
Today is the seven-year anniversary of the launch of RSRT. In the midst of crazy schedules and workloads, anniversaries offer an opportunity for a few quiet moments of reflection on both achievements and challenges ahead. For me the last 7 years, while demanding, have been the most rewarding of my…
Latest MECP2 News from the Mandel Lab
September 24, 2015
Housed in the nucleus of every cell in the body is 6 feet of DNA. The nucleus is so small that 10,000 of them with a combined total of 11 miles of DNA would fit on the tip of a needle. The video below explains how the unimaginable feat of…
RSRT Awards $337,336 to Michela Fagiolini at Boston Children’s Hospital
September 9, 2015
Work from a variety of labs has identified the excitatory NMDA receptor as a possible target for intervention in Rett. The NMDA receptor is made of various components, including GluN2B and GluN2A. In previous work, Dr. Michela Fagiolini found that decreasing the activity of GluN2A rescues certain neuronal defects and symptoms….
Rett and Pharma… What’s the Attraction?
September 1, 2015
I often come across statements to this effect, “The pharmaceutical industry is not interested in pursuing drug development for Rett Syndrome because the disorder is rare and companies won’t make any money.” And yet, I am fielding emails, calls and in-person meetings with industry executives almost on a daily basis….
Adrian Bird | Hope for Rett Syndrome
August 17, 2015
If you care about Rett Syndrome then you undoubtedly know about Adrian Bird. He discovered the Rett gene, MECP2, and he made the first animal model of the disease. And if that wasn’t enough his reversal experiments suggested to the world that Rett may be curable. “There is hope now…
LI Scientists Find Possible Treatment for Rett Syndrome
July 31, 2015
Long Island scientists have moved a tantalizing step forward in efforts to better understand — and alleviate — some of the devastating symptoms of Rett Syndrome, a rare, incurable, neurodevelopmental condition that primarily strikes girls. The syndrome shares key symptoms associated with autism spectrum disorders but has many symptoms that…
RSRT 2014 Annual Report
July 30, 2015
We are delighted to share our 2014 Annual Report. A year of progress made possible by our donors and supporters. Key figures: $5.8 Million Raised $5.8 Million Awarded to Research 4 Star Charity Navigator Rating
Super-Genes to the Rescue?
July 24, 2015
Do superhumans actually exist? Apparently they do, and their DNA could hold the key to solving some of the world’s health problems. Freakishly strong bones and an alarmingly high pain threshold aren’t the result of falling in a vat of toxic waste, they are caused by genetic mutations. Pharmaceutical…
RSRT Awards $400,000 to Mark Zylka for Long Genes Screening
July 9, 2015
In March of this year, the lab of Michael Greenberg at Harvard Medical School published data showing that the MECP2 gene lowers the expression of genes that are physically long. The scientists found that the MeCP2 protein acts as a dimmer switch, dampening the expression of long genes. When the MeCP2…
New Technology Crispr-Cas9 Fuels Genome Editing Conversation
July 7, 2015
It’s an exciting time for gene therapy with a myriad of disease indications being explored ranging from blindness to potential cures for HIV and successful clinical trials being conducted for infants with Spinal Muscular Atrophy (SMA). These awesome advances have not been ignored by RSRT which is why we recently…
Gut Microbiomes & Rett: What’s the Connection?
June 26, 2015
People suffering from neurological disorders often have gastrointestinal issues. Rett Syndrome is no exception. Our kids are often tortured by constipation, reflux, gas pains and more. It should come as no surprise that the brain and the gut are connected, after all, the gut is lined with over 100 million…
Gene Therapy Consortium Meeting – A Parent’s Perspective
June 25, 2015
Dear Friends, I had a remarkable experience recently at an all-day meeting in Boston with Monica and the scientists of RSRT’s Gene Therapy Consortium that I wanted to share. The Consortium is a collaboration of four labs that are developing a way to use gene therapy to treat or maybe…
RSRT Awards $530,000 to Neurolixis for Clinical Development of NLX-101
June 24, 2015
RSRT recently awarded $530,000 to Neurolixis, a small biotech firm in southern California that is developing the drug, NLX-101, to treat breathing abnormalities in people affected by Rett Syndrome. The drug targets a specific serotonin receptor (5-HT1A) located in regions of the brain that affect respiration, mood and cognition. It’s…
Chicago Hope
June 3, 2015
Dear Friends, I am sitting in a plane on the tarmac at Chicago O’Hare, returning home from an amazing event that was spearheaded by a Rett family. The captain just announced that we are last in line for takeoff—could be an hour wait. Bummer! It’s a beautiful Friday afternoon and…
Monica Coenraads Awarded Honorary Doctoral Degree – UMass Medical School
June 1, 2015
We’re delighted to share this monumental honor with the Rett community. Our very own Monica Coenraads was awarded an honorary doctoral degree from UMass Medical School at their 2015 commencement ceremonies. It goes without saying that Monica’s knowledge, passion and courage provide not only the backbone but the spirit of…
New Study Yields Conflicting Results
May 21, 2015
Three years ago, a study showed that a bone marrow transplant performed in pre-symptomatic male mice models of Rett Syndrome substantially extended their lives and reduced symptoms of disease. The unexpected findings caught the attention of Rett researchers, physicians, and parents. Seeking to validate the results and therefore strengthen the case for…
Research from Harvard Points to Potential New Avenue for Treatment
March 11, 2015
Every cell in our body contains the same genes. Yet a brain cell is distinctly different from a heart cell or a liver cell. What differentiates these cells are the genes that are either silenced or active and the degree of activation of the genes, also known as expression. Scientists…
Interview with Former Director of the FDA Office of Orphan Product Development, Timothy Coté
March 1, 2015
For a variety of reasons the pharmaceutical industry over the last few years has become more and more interested in rare disease. This is great news for Rett Syndrome. As terms like orphan drug designation, breakthrough therapy, efficacy, drug approval, market exclusivity become part of our everyday lingo it is…
California Family Sets Record for Online Giving Campaign for RSRT
February 17, 2015
Brenna and Mike Johnson of Tustin CA were devastated when their daughter Gisele was diagnosed with Rett last fall. But the Johnsons quickly got to work to make a difference to the research that they know will change Gisele’s life. In early December they started an online campaign for RSRT…
RSRT Awards $5.8 Million For Research and Two Clinical Trials
February 6, 2015
This week RSRT announced research investments of $5.8 million bringing total commitment to research to $25 million since its launch in 2008. Highlights of RSRT’s 2014 awards: Funding of $1.3 million was awarded to Case Western Reserve University and the Cleveland Clinic for a Phase 2 clinical trial of low-dose…
We Need 9 More!
January 30, 2015
Guest Blogger Beth Jones, whose daughter Jocelyn has Rett Syndrome, urges more families to take action Yesterday, we sat in 5 hours of traffic taking Jocelyn to Los Angeles for her orthopedic appointment. Her scoliosis is turning her into a question mark, her back brace is so uncomfortably tight…
MECP2 Consortium Update – Breaking Down the Walls
January 14, 2015
As always at RSRT, our funded projects are aimed at developing effective treatments and a cure for Rett Syndrome. But one of the key roadblocks to achieving this has been a lack of knowledge about the MeCP2 protein and how it functions. In 2011 RSRT decided to conduct an experiment…
Windfall: Good or Bad?
January 7, 2015
This past November the Cystic Fibrosis Foundation (CFF) announced an unprecedented windfall: $3.3 billion from selling royalty rights to drugs that it helped develop to treat Cystic Fibrosis. The payout is the largest financial return ever secured by a disease nonprofit. The CFF is the gold standard for anyone working…
Rett and the Gut
December 10, 2014
So many of our kids suffer from gut problems – constipation, reflux, bloating and pain. Despite the prevalence of GI issues in Rett this is an area that has been mostly unexplored by scientists. So we are happy to add Dr. Ali Khoshnan of Caltech to our growing list of…
MECP2 Gene Therapy Consortium Update
December 2, 2014
I am delighted to give you a brief update on the MECP2 Gene Therapy Consortium, the collaboration of four elite labs that RSRT launched earlier this year. As you know, the Consortium is charged with developing gene therapy techniques that could treat or significantly reverse the symptoms of Rett. Our…
Lessons from the Ice Bucket Challenge
November 14, 2014
Dear Friends, I’ve been thinking a lot lately about the phenomenon of the Ice Bucket Challenge that swept the nation this past summer. This was a major coup for research on ALS, also known as Lou Gehrig’s disease. By most accounts it resulted in more than $100 million going to…
A Promise
October 10, 2014
Chelsea is 18 years old today. It’s a milestone birthday that parents of special needs children face with mixed emotions. My heart is full with love and pride for the beautiful, emotive, tender yet determined young woman that Chelsea has become. But today I am also mourning. Mourning for a…
The X Factor – Michael Green Interview
September 30, 2014
Monica Coenraads interviews Michael Green, MD, PhD of the UMASS School of Medicine about his newly published paper in Proceedings of the National Academy of Sciences. The work was funded, in part, by RSRT. He has identified a number of genes that when disrupted can reactivate the silenced X chromosome…
Guest Blogger: Drug Therapies and Rett
September 10, 2014
Dr. Menniti is the Chief Scientific Officer at Mnemosyne Pharmaceuticals Discovering drugs to treat diseases of the central nervous system is a formidable task. Our brains are easily the most complex machines on the planet and the more we learn about this machine, the more daunting seems the task of…
Rett Syndrome: Why Girls?
August 12, 2014
Anyone who knows anything about Rett Syndrome knows that the disorder is primarily seen in girls. The disorder is caused by disruption of the MECP2 gene located on the X chromosome. Girls have two X chromosomes one with the disrupted gene and one with the healthy gene. Having some healthy…
It’s Up To Us
June 18, 2014
Dear Friends, A year ago today I started as program director for RSRT. I thought I would share a few reflections about the people I’ve met and what I’ve experienced and learned over that time. Before starting at RSRT I had met two girls with Rett Syndrome—my own daughter and…
Wake Up MECP2!
May 27, 2014
There is no mystery about why a girl suffers from Rett Syndrome. The cause is the mutated copy of the MECP2 gene inhabiting her cells. But since MECP2 is on the X chromosome and all females have two X’s, beside each mutated gene rests a healthy but silenced twin. What…
Transparency in Clinical Trials
May 20, 2014
Clinical trials are designed to make sure that new therapeutics are both safe and effective. They can also be used to identify side effects, to compare how well different drugs work relative to each other and to see if certain populations react differently to different treatments. In order for…
UMASS Highlights Rett and the Work of RSRT
May 7, 2014
Last year RSRT awarded a $750,000 grant to Michael Green, PhD of University of Massachusetts to pursue an unconventional approach to reversing Rett: reactivating the silent X chromosome. UMASS just released the piece and video below highlighting Dr. Green’s work. We are struck by the following quote from Dr. Green:…
Chasing Cures: Reinventing the Business of Medicine
April 29, 2014
The Milken Institute Global Conference, which explores solutions to pressing challenges including healthcare, took place today in Los Angeles. FasterCures reported on the conference proceedings with the blog post below – two facts caught our attention: Only 1 of every 10,000 academic discoveries make their way into the hands of…
Peer Review and Impact Factors
April 15, 2014
Science, Nature, and Cell, The New England Journal of Medicine, The Lancet – these most prestigious of scientific and medical journals are published on a weekly basis, each week’s issue brimming with amazing new discoveries claiming to expand the state of knowledge in their respective fields, or better yet, to…
Diagnosis: Rett Syndrome
March 5, 2014
If you’ve ever wondered why a Rett diagnosis is based on clinical features and not a positive MECP2 test or if you have a child with a Rett diagnosis but no MECP2 mutation or the other way around then this is a video for you. What exactly does atypical Rett…
On the Hunt for Modifiers
February 26, 2014
Variations in our genome are what make us unique. It’s also what predisposes or protects us from disease. For example, you may know people who eat high fat diets and yet have low cholesterol or people who, although they have never smoked, succumb to lung cancer, like Christopher Reeve’s wife,…
Shaking World Views
January 28, 2014
Faced with the complex problem of discovering the elusive function of the Rett protein, RSRT set out to conduct an experiment of our own. We shook the conventional practice of laboratories working in isolation and instead convened three scientists to work collaboratively: the MECP2 Consortium. We gave them the necessary…
RSRT Launches the MECP2 Gene Therapy Consortium with a $1.5 Million Investment
January 28, 2014
These videos are perhaps the most well-known in the Rett community. If you love a child with Rett then chances are you’ve watched them obsessively. This work published in 2007 by Adrian Bird, declared to the world that Rett is reversible, but did not tell us how this could be done in people….
What’s the Buzz About CRISPRs?
January 20, 2014
Sometimes, new ideas come from the strangest of places; inspired by something that seems completely unrelated. This sort of out-of-the-blue brain blast is exactly what happened in 2012 when a study about bacteria’s adaptive immunity opened up the possibility for a new approach to gene therapy. While CRISPR technology was…
RSRT Trustee, Professor Adrian Bird, Knighted
January 3, 2014
We are starting the New Year with the wonderful news that Professor Adrian Bird has been Knighted for his services to science. For anyone following Rett research Prof. Bird needs no introduction. His list of contributions to the Rett field are numerous starting with the discovery of the MeCP2 protein…
Two RSRT-funded Projects Included in Top Ten Most Notable Papers of 2013
January 3, 2014
At the end of every year the Simons Foundation announces its list of most notable papers from the autism field. Among these are two RSRT-funded papers: the gene therapy paper from Gail Mandel and Adrian Bird and the statin paper from Monica Justice.
One Person Many Genomes
November 11, 2013
RSRT scientific advisor, Rusty Gage has made yet another remarkable discovery. He has found that brain cells are fraught with spontaneous mutations. In fact as many as 40% of neurons in the frontal cortex have mutations. Tom Insel, director of the National Institute of Mental Health comments on these findings…
Cholesterol and neurological disorders
November 11, 2013
It seems that cholesterol and the brain is becoming a hot field. Following up on the RSRT-funded results of the Justice lab comes an intriguing (and unpublished) study highlighted by the Simons Foundation. New autism gene plays key role in cholesterol synthesis Mutations in a gene that plays a role in…
RSRT-funded Study Shows Gene Therapy Can Reverse Rett Symptoms in Mice
August 20, 2013
To profoundly impact a disorder with as many varied and debilitating symptoms as Rett Syndrome, it is likely that intervention must be directed toward the very root of the problem. There are several ways to do this: activate the silent back-up copy of the Rett gene; target modifier genes; explore…
2013 Scientific Investments To Date
August 12, 2013
In contrast to the leadership of most organizations we yearn for the day when RSRT is no longer in business – that will mean an end to Rett. Until that day comes we will continue to invest in high quality science. In the first half of 2013 RSRT has committed…
RSRT-funded Study Shows Cholesterol-Lowering Drugs Suppress Rett Symptoms
July 28, 2013
Rett Syndrome is a spectrum disorder with a broad range of symptom severity. Some girls can run, have some use of their hands and can speak in short sentences while others cannot even sit or manage to hold their head up. One reason for this variation is the child’s own…
Problems Plague PTC Therapeutics Drug, Ataluren
June 29, 2013
A paper just out in PLOS Biology is unable to confirm that the drug Ataluren is able to read through premature stop codons (nonsense mutations, for example 255X, 168X). The drug is already in clinical trials for Cystic Fibrosis and Duchenne’s muscular dystrophy. The new data highlights not only the…
Welcome Tim!
June 25, 2013
Press Release Announces Tim’s Hire Dear Friends, A year and a half ago my wife, Rachel, and I received the worst phone call of our lives—it was the Children’s Hospital of Pennsylvania informing us that our beautiful, bright-eyed, giggling two-and-a-half year old daughter, Eleanor, had tested positive for the MECP2…
The Rett Syndrome Protein Surrenders Some of its Secrets
June 16, 2013
It stands to reason that in our battle to cure Rett Syndrome it would be of great benefit to understand the function of the “Rett protein”, MeCP2. Towards this end RSRT launched the MECP2 Consortium in 2011, a unique $1.8 MM collaboration between three distinguished scientists, Adrian Bird, Michael Greenberg, Gail Mandel. …
Research Nuggets
June 13, 2013
We break down a few interesting results recently published. Multiple mutations on MeCP2 In most cases of Rett syndrome, one mutation occurs on (a single copy of) the MeCP2 gene. But, rarely, multiple mutations occur on the same copy. Researchers from the University of Alabama at Birmingham characterized the largest…
Fragile X News
June 12, 2013
News from the Fragile X community highlights the challenges of clinical trials. Below is an article from the New York Times written by Andrew Pollack. Holly Usrey-Roos will never forget when her son, Parker, then 10, accidentally broke a drinking glass and…
Hope!
May 24, 2013
Someone once told me that hope is what distinguishes humans from every other species; our ability to look to a potential future rather than live solely in the here and now. This is, of course, wildly inaccurate; I am not a biologist or anthropologist (or any other ‘ist’ for that…
VIDEOS: “Curing Rett Syndrome – How Do We Get There?”
May 17, 2013
On April 23rd in New York City RSRT presented an event entitled “Curing Rett Syndrome – How Do We Get There?” The event was videotaped and is now available on RSRT’s YouTube channel. Curing Rett Syndrome – How Do We Get There? Monica Coenraads Executive Director of RSRT Monica…
Learning from Patients
May 17, 2013
Rett Syndrome doesn’t usually run in the family. Researchers led by Alessandra Renieri at the University of Siena in Italy encountered two exceptional cases: one pair of sisters with the same mutation in the Rett-causing gene MECP2, and a second pair with identical deletions within the gene. Despite having the…
Boys With Rett Give Us Clues About MeCP2’s Function
March 6, 2013
Rett Syndrome is caused by a variety of mutations in the MeCP2 protein, but in some instances, MeCP2’s end is missing. A graduate student in Developmental Biology at the Baylor College of Medicine in Houston, Steven Baker, who is also in the medical scientist training program, was sifting through the…
Rett Researchers Get Up Close and Personal
March 5, 2013
This past November in a peaceful New York City suburb, twenty-eight scientists gathered for a three-day meeting organized and sponsored by RSRT. In the age of email and Skype and webinars and GoToMeeting and a plethora of ways to connect people from across the world with a click of a…
Funding Research – Funding Results: Record $4.2 Million Awarded
February 9, 2013
For almost 15 years now, I’ve been immersed in the science behind Rett Syndrome. As Executive Director of RSRT I understand that the work is methodical, that good research takes time, that breakthroughs often come after many tiny, incremental steps. And yet, as a mother witnessing my 16-year-old daughter deteriorate…
A New Mode of Action for MeCP2
December 21, 2012
That mutations in the MECP2 gene cause Rett Syndrome has been known for over a decade. But what exactly the protein does is not yet clear. In the early 90s, Adrian Bird’s group purified MeCP2—which stands for methyl-CpG binding protein 2—and named the protein for its ability to bind parts…
Who’s In Charge?
December 11, 2012
The current issue of Businesweek includes an interesting article on the challenges of drug discovery. The quote from Margaret Anderson really resonates “The challenge in medical research is that there ultimately is no one in charge.” In one simple sentence she gets to the root of why RSRT and other…
NIH Funding Woes
December 6, 2012
This week’s issue of Nature contains a provocative article (see below) suggesting that the National Institutes of Health is missing the mark by funding “safe” science rather than novel and potentially game-changing research. The claim is hardly new. In fact scientists often joke that in order to get NIH funding…
Four Challenges in Rett Translational Research
November 19, 2012
In September of 2011, RSRT met with the National Institute of Neurological Disorders (NINDS) and other public and private organizations that fund Rett Syndrome research to discuss crucial knowledge gaps in the field. The main findings of the workshop were published recently in Disease Models & Mechanisms. In particular, the…
Innovation Meets Experience
October 26, 2012
In January of this year a gentleman who has a granddaughter with Rett Syndrome introduced me to his neighbor, David Scheer, a 31-year veteran of the life sciences industry. I was eager to meet David, whose entrepreneurial focus lies at the intersection of finance and science. Our planned hour of…
Rett Mice Continue to Reveal Their Secrets
October 25, 2012
Ever wondered why most labs use male Rett mice for their experiments even though the females are the better model? What human symptoms are replicated in the Rett mice? What are some of the surprises these mice have in store for us? What are the complexities of doing well-designed and…
Podcast Interview with David Katz, PhD: Rett Syndrome and Ketamine
October 9, 2012
Monica Coenraads, Executive Director of the Rett Syndrome Research Trust, interviews David Katz, PhD about his Journal of Neuroscience paper published 10/3/2012 and entitled “Brain Activity Mapping in Mecp2 Mutant Mice Reveals Functional Deficits in Forebrain Circuits, Including Key Nodes in the Default Mode Network, that are Reversed with Ketamine…
Life Cycles and MeCP2
June 15, 2012
Adrian Bird and colleagues recently published their latest paper on MeCP2 in the journal Human Molecular Genetics. The series of experiments described in the paper were designed to explore what happens when the MeCP2 protein is removed from mice of various ages, including in a fully adult mouse. This work was…
Treating Synaptic Dysfunction
May 15, 2012
Last month brought me to Houston, Texas to attend a fascinating meeting organized by Huda Zoghbi and Morgan Sheng and co-sponsored by RSRT. Entitled Disorders of Synaptic Dysfunction, the event was the inaugural symposium of the recently established Jan and Dan Duncan Neurological Research Institute, directed by Dr. Zoghbi. The…
Bone Marrow Transplants – Proceeding with Caution
March 28, 2012
The recent publication of the Kipnis paper in Nature has generated understandable excitement and questions in the Rett community. Email and Facebook are difficult vehicles for providing proper answers. Rett Syndrome is complex, and so is the research; this work doesn’t lend itself to sound bites. I know Rett mothers…
Bone Marrow Transplant Stops the Development of Symptoms in Model of Rett Syndrome
March 18, 2012
Click Here to Read Press Release A paper published online today in the high-profile journal, Nature, describes the results of using a bone marrow transplant to dramatically stop the development of symptoms in pre-symptomatic male and female mouse models of Rett Syndrome. The work was undertaken in the neuroimmunology laboratory…
BioWorld Insight feature article on Rett Syndrome
February 24, 2012
A recent issue of BioWorld Insight, the weekly newsletter that provides behind-the-scenes analysis and commentary on the biotechnology industry, included a feature article on Rett Syndrome. The piece explored how recent interest in rare diseases on the part of pharmaceutical/biotech industry may impact research in disorders such as Rett Syndrome and…
Prof. Adrian Bird Gives Speech at London Event
February 17, 2012
Professor Adrian Bird needs no introduction to anyone who follows Rett Syndrome research. His list of accomplishments includes discovering the MeCP2 protein, developing multiple animal models for the disease and authoring the seminal 2007 Science paper which introduced the startling concept that Rett Syndrome and other MECP2-related disorders are curable….
What Success Looks Like
February 1, 2012
Doris Tulcin – A Mother’s Love Raises the Bar For All Non-Profits Half a century ago, a mother whose baby daughter was diagnosed with a life-threatening genetic disorder decided to fight it. Doris Tulcin is that mother, and Cystic Fibrosis is the disease against which she went to war. First…
Letter from the Executive Director
January 19, 2012
Dear Friends, This October will mark fourteen years since my daughter, Chelsea, was officially diagnosed with Rett Syndrome. On that day I made my then two-year-old daughter a promise: I would do everything in my power to free her from Rett Syndrome. In pursuit of that promise I co-founded two…
The X Factor
December 22, 2011
Those of you who follow the efforts of RSRT know that one of the treatment strategies we are pursuing is the reactivation of the MECP2 gene on the inactive X chromosome. A quick refresher for those in need of one: mutations in MECP2 cause Rett Syndrome (and a host of…
The Search for Novel Therapeutic Approaches for Rett Syndrome Broadens and Intensifies
December 8, 2011
Many of you know that my involvement in Rett Syndrome is personal. I have a daughter who suffers greatly from every Rett symptom in the book. She is now 15 years old and every year brings new challenges. In the last six months she has developed severe Parkinsonian symptoms: violent…
A New Way of Doing Business
September 7, 2011
On a chilly day in early spring, an unlikely group gathered in a spacious office at Harvard Medical School – the office of Michael Greenberg, Chairman of the Department of Neurobiology, one of the most respected and prolific neurobiology departments in the world. Joining Dr. Greenberg was Adrian Bird…
Rett Syndrome – A Disease of Neurons AND Glia
June 29, 2011
A paper published online today in Nature reveals that glia play a key role in preventing the progression of the most prominent Rett Syndrome symptoms displayed by mouse models of the disease: lethality, irregular breathing and apneas, hypoactivity and decreased dendritic complexity. The discovery, funded in part by the Rett…
Bringing Justice to Rett
June 21, 2011
Last week the trustees of RSRT voted to award continued funding to Monica Justice of Baylor College of Medicine. Dr. Justice is a mouse geneticist (yes…there really is such a thing) who is spearheading one of the most unique projects in the Rett research arena today. For background information please…
Rett Syndrome: Neurodevelopmental No Longer
June 2, 2011
Huda Zoghbi’s watershed discovery of the genetic cause of Rett Syndrome in 1999 ushered in a new era of research. The first mouse models for the disease came on the scene in 2001. The male mice are missing the Mecp2 protein completely and are called knockouts; the females, due to…
Fragile X and Rett Syndrome – Opposite Ends of the Bell Curve?
April 25, 2011
Mark Bear, Ph.D. of MIT is the most recent addition to RSRT’s portfolio of funded scientists. Prof. Bear studies synapses, the gaps between nerve cells where chemical or electrical signals are exchanged. The strengthening and weakening of synapses contributes to learning and memory but when impaired can lead to neurological…
The View Looks at Rett
January 27, 2011
On January 28th the women of ABC’s The View sat with View cameraman Manny Gutierrez, his wife Stefanie and their little daughter, Anna, who has Rett Syndrome. The Gutierrez family and Monica Coenraads of the Rett Syndrome Research Trust spoke about the impact of Rett and the prospects for a…
Rett Syndrome In a Petri Dish
November 12, 2010
On November 11th the high-profile journal Cell published a paper by Alysson Muotri, Ph.D. entitled A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells. The stem cell field has seen amazing progress in the last few years. Induced Pluripotent Stem Cells (iPS cells)…
Yet Another Door Opens: Neuroimmunology
July 7, 2010
Considering Microglia, T Cells and Bone Marrow Transplants in Rett Syndrome Today we interview Jonathan Kipnis, PhD, a neuroimmunologist who is looking at how the immune system interacts with the nervous system in Rett Syndrome, and is experimenting with ways to engage that interaction to impact Rett symptoms. The immune system is…
Curing Rett Syndrome: How do we get there? PART II
May 26, 2010
On April 18, 2010 the Rett Syndrome Center at The Children’s Hospital at Montefiore in the Bronx hosted their third Parent Gathering. I presented the second part in a series explaining RSRT’s research strategies and the very interesting scientific tools and discoveries on which they are based. I want to…
Scoliosis in Rett Syndrome
March 17, 2010
This blog post will deviate from our typical scientific pieces to focus on a clinical aspect of Rett: scoliosis. As a mother, I can testify that the mere thought of scoliosis surgery makes my knees weak and my stomach queasy. I’ve spoken to enough parents during the past decade to…
Redefining the Function of the Rett Syndrome Protein
February 25, 2010
Just before the holidays I had an opportunity to discuss with Adrian Bird the new data reported in his latest paper, published today in Molecular Cell. Most readers of this blog will know that Prof. Bird discovered the MeCP2 protein in the early 1990s while working at the Research Institute…
Rett Syndrome and the DSM V
February 22, 2010
SINDROME DE RETT Y EL DSM V – traducido As many parents may already know, the Diagnostic and Statistical Manual of Mental Disorders, known as the DSM, is in the process of reevaluating criteria for the new edition to be published in 2013, the DSM V. There is discussion among…
The Upside of Genetic Mutations
September 29, 2009
Last week I attended a scientific meeting held in Stresa, Italy and organized by a parent group, Pro Rett Ricerca. One of the most well received talks of the speaking program was presented by Monica Justice, PhD of Baylor College of Medicine, who discussed data collected from her RSRT-funded project….
Rett Gene Discovery: Ten-Year Anniversary
August 17, 2009
Tenacity, talent and pure luck coincided ten years ago this week in a crucial experiment that forever changed the landscape of Rett Syndrome research. Dr. Zoghbi examined her first patient with Rett Syndrome in the mid 1980’s and was so emotionally and intellectually hooked that she decided to put her…
Curing Rett Syndrome: How Do We Get There?
July 27, 2009
On June 28, 2009 the Rett Syndrome Center at The Children’s Hospital at Montefiore in the Bronx hosted a Parent Gathering. The Director of the Center, Dr. Aleksandra Djukic, warmly welcomed the audience and introduced the first of what will be quarterly Gatherings. Dr. Djukic introduced R.E.T.T. (Rethink Education, Therapy…
And Then There Were Six
May 6, 2009
The readers of this blog will have noted the frequent mention of epigenetics – a young but hot area of research which holds promise for novel therapeutic interventions for a myriad of diseases. The term epigenetic means over and above the genome. It refers to changes in gene expression caused…
RSRT Advisor Makes Significant Discovery
February 22, 2009
Glia in Rett Syndrome: New Findings Gail Mandel’s new work reveals not only the important information that MECP2 is expressed in glia as well as in neurons, but the discovery that MECP2-deficient astrocytes (a subset of glia) seem to effectively stunt the development of neurons. CLICK TO READ PRESS RELEASE Neuroglia, Nursemaids…