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AveXis/Novartis Release Statement on AVXS-201

August 22, 2019Research, In The News

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…

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Biosensors and the Future of Rett Therapeutics

August 14, 2019Research

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…

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Harnessing Exosomes as a Therapeutic for Rett Syndrome

August 10, 2019Research

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….

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New Drugs Restore Brain Balance to Treat Rett Syndrome

August 2, 2019Research

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…

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My First 9 Months at RSRT

July 3, 2019Research

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…

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Making Sense of it All

June 5, 2019Research

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…

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A Big Step for Gene Therapy

June 1, 2019Research, In The News

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…

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Ketamine Clinical Trial for Rett Syndrome Launches

March 13, 2019Research

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…

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On the Shoulders of Giants

January 24, 2019Research, Fundraising

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…

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What’s Making MeCP2 Toxic in Duplication Syndrome?

January 14, 2019Research

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…

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New Method Developed to Study MeCP2 Function in Humans

November 19, 2018Research

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…

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What Does it Take to Run a Clinical Trial?

November 6, 2018Research

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…

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UPDATE: AVXS-201 Gene Therapy for Rett Status

October 31, 2018Research

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…

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Moving the Needle

October 29, 2018Research

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…

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The Future is Now

August 7, 2018Research

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…

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Meeting of the Minds

June 7, 2018Research

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…

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Unapologetically Going for the Cure

April 30, 2018Research, Roadmap

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…

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Novartis to Acquire AveXis

April 9, 2018Research

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…

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Drug Development Is Cheap And Easy, Said No One Ever

March 15, 2018Research

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…

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Making It Count

March 12, 2018Research, Fundraising

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…

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A Rigorous Peer Review: Why You Should Care

March 6, 2018Research

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…

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Vision and Guts

March 4, 2018Research

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…

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AveXis Reports on Rett Gene Therapy Program: AVXS-201

February 28, 2018In The News, Research

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…

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Funding Collaboration Not Competition

February 26, 2018Research, Roadmap

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:…

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The Road to FDA Approval

February 7, 2018Research

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…

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Is a Cure for Rett Really Around the Corner?

January 31, 2018Research

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…

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Inspired by You

January 12, 2018Research, Community

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…

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Preparing for Gene Therapy Trials

November 17, 2017Research

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….

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Breakthrough Discoveries for DNA & RNA Editing

November 8, 2017Research

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…

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Editing Out Rett Mutations

October 26, 2017Research

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…

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Bridging the Divide

October 11, 2017Research

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…

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Roadmap Update: Jaenisch Lab Award

September 20, 2017Roadmap, Research

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…

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What About Us?

July 12, 2017Research

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…

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Precision Medicine

June 19, 2017Research

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…

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AveXis Announcement – Delivering on Roadmap to a Cure

June 8, 2017Roadmap, Research

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…

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Gene Therapy Consortium Reports on Progress

May 15, 2017Research

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…

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Gene Therapy Primer

May 10, 2017Research

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…

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Racing Down The Gene Therapy Highway To A Cure

April 25, 2017Research

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…

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Orphan Drug Designation: What Does it Mean?

March 30, 2017Research

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…

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New Insight Into MECP2 Mutation Hotspot

March 28, 2017Research, In The News

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…

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Roadmap to a Cure FAQ

March 24, 2017Research, In The News

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…

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RSRT Awards $7.5 Million to Research in 2016

March 17, 2017Research, In The News

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…

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Key Questions to Ask When Considering Clinical Trials

February 28, 2017Research, Community

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…

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Awaken and Activate the Mighty X Chromosome

February 2, 2017Research

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…

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Of Mice and Rett: Novel Therapeutics & Community Support

January 27, 2017Research, Community

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…

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Rare Disease Drug Approval Sparks Controversy

December 14, 2016Research, In The News

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….

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Gene Editing Shows Potential for Treating Genetic Diseases Like Rett

December 6, 2016Research, In The News

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…

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Mortgaging the House

August 18, 2016Research, In The News

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….

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Deep Brain Stimulation: Next Steps

August 10, 2016Research

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…

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Deep Brain Stimulation and MECP2

August 4, 2016Research, In The News

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…

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Results of Copaxone Open Label Trial

August 1, 2016Research

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,…

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The Boys of Rett

July 26, 2016Research, Community

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…

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Ask Dr. Carpenter: Episode 1

July 20, 2016Research, Community

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…

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Funding in the Pursuit of Balance

June 23, 2016Research

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…

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First Impressions

June 20, 2016Research

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…

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Attacking Rett Where it Lives | More Funding Awarded

May 24, 2016Research

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…

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Educating the FDA on Breathing Problems

March 31, 2016Community, Research

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…

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Rett Syndrome Clinic in Atlanta Launches Clinical Trial

March 15, 2016Research

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…

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$9 Million Awarded to Research

March 8, 2016Research

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…

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Rett in Review: Crossing Thresholds

February 3, 2016Research, In The News

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…

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KCC2 and Rett: The Import/Export Business

January 26, 2016Community, Research

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…

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The Growing Toolbox of Rett Mouse Models

January 11, 2016Research

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…

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Rett Researchers Gather in Boston

January 5, 2016Research

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…

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MECP2 Consortium Progress Report

December 23, 2015Research

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…

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Ketamine Trial is Recruiting

December 15, 2015Research, Community

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…

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Gene Therapy Consortium Progress Update

December 15, 2015Research

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…

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MECP2 Duplication Syndrome is Reversible

November 25, 2015Research

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 ,…

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Deep Brain Stimulation – A Potential Therapeutic for Rett Syndrome?

October 15, 2015Research

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…

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Urological Issues in Rett

October 10, 2015Research

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…

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Latest MECP2 News from the Mandel Lab

September 24, 2015Research

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…

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RSRT Awards $337,336 to Michela Fagiolini at Boston Children’s Hospital

September 9, 2015Research

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….

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LI Scientists Find Possible Treatment for Rett Syndrome

July 31, 2015Research

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…

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Super-Genes to the Rescue?

July 24, 2015In The News, Research

  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…

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RSRT Awards $400,000 to Mark Zylka for Long Genes Screening

July 9, 2015Research

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…

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RSRT Awards $530,000 to Neurolixis for Clinical Development of NLX-101

June 24, 2015Research

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…

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New Study Yields Conflicting Results

May 21, 2015Research

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…

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Research from Harvard Points to Potential New Avenue for Treatment

March 11, 2015Research

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…

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RSRT Awards $5.8 Million For Research and Two Clinical Trials

February 6, 2015In The News, Research

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…

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MECP2 Consortium Update – Breaking Down the Walls

January 14, 2015Research

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…

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Rett and the Gut

December 10, 2014Research

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…

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MECP2 Gene Therapy Consortium Update

December 2, 2014Research

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…

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A Promise

October 10, 2014Community, Research

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…

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Guest Blogger: Drug Therapies and Rett

September 10, 2014Research

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…

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Rett Syndrome: Why Girls?

August 12, 2014Community, Research

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…

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Wake Up MECP2!

May 27, 2014Research

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…

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Chasing Cures: Reinventing the Business of Medicine

April 29, 2014In The News, Research

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…

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Peer Review and Impact Factors

April 15, 2014Research

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…

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Peer Review and Impact Factors

April 14, 2014Research

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…

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Diagnosis: Rett Syndrome

March 5, 2014Community, Research

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…

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On the Hunt for Modifiers

February 26, 2014Research

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,…

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Shaking World Views

January 28, 2014Research

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…

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What’s the Buzz About CRISPRs?

January 20, 2014In The News, Research

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…

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One Person Many Genomes

November 11, 2013In The News, Research

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…

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Cholesterol and neurological disorders

November 11, 2013In The News, Research

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…

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RSRT-funded Study Shows Gene Therapy Can Reverse Rett Symptoms in Mice

August 20, 2013In The News, Research

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…

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2013 Scientific Investments To Date

August 12, 2013Research

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…

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Problems Plague PTC Therapeutics Drug, Ataluren

June 29, 2013Research

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…

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The Rett Syndrome Protein Surrenders Some of its Secrets

June 16, 2013In The News, Research, Success Stories

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. …

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Research Nuggets

June 13, 2013Research

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…

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VIDEOS: “Curing Rett Syndrome – How Do We Get There?”

May 17, 2013Community, Research

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…

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Learning from Patients

May 17, 2013Research

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…

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Boys With Rett Give Us Clues About MeCP2’s Function

March 6, 2013Research

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…

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Rett Researchers Get Up Close and Personal

March 5, 2013Research

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…

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Funding Research – Funding Results: Record $4.2 Million Awarded

February 9, 2013In The News, Research

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…

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A New Mode of Action for MeCP2

December 21, 2012Research

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…

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Who’s In Charge?

December 11, 2012In The News, Research

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…

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NIH Funding Woes

December 6, 2012In The News, Research

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…

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Four Challenges in Rett Translational Research

November 19, 2012Research

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…

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Innovation Meets Experience

October 26, 2012Community, Research

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…

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Rett Mice Continue to Reveal Their Secrets

October 25, 2012Research

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…

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Podcast Interview with David Katz, PhD: Rett Syndrome and Ketamine

October 9, 2012Research

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…

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Life Cycles and MeCP2

June 15, 2012Research

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…

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Treating Synaptic Dysfunction

May 15, 2012Research

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…

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Bone Marrow Transplants – Proceeding with Caution

March 28, 2012In The News, Research

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…

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Bone Marrow Transplant Stops the Development of Symptoms in Model of Rett Syndrome

March 18, 2012In The News, Research

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…

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BioWorld Insight feature article on Rett Syndrome

February 24, 2012In The News, Research

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…

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The X Factor

December 22, 2011Research

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…

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A New Way of Doing Business

September 7, 2011In The News, Research

  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…

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Rett Syndrome – A Disease of Neurons AND Glia

June 29, 2011In The News, Research

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…

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Bringing Justice to Rett

June 21, 2011Research

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…

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Rett Syndrome: Neurodevelopmental No Longer

June 2, 2011Research

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…

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Fragile X and Rett Syndrome – Opposite Ends of the Bell Curve?

April 25, 2011Research

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…

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Rett Syndrome In a Petri Dish

November 12, 2010Research

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)…

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Yet Another Door Opens: Neuroimmunology

July 7, 2010Research

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…

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Curing Rett Syndrome: How do we get there? PART II

May 26, 2010Community, Research

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…

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Scoliosis in Rett Syndrome

March 17, 2010Research

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…

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Redefining the Function of the Rett Syndrome Protein

February 25, 2010Research

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…

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The Upside of Genetic Mutations

September 29, 2009Research

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….

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Rett Gene Discovery: Ten-Year Anniversary

August 17, 2009Research

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…

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Curing Rett Syndrome: How Do We Get There?

July 27, 2009Community, Research

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…

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And Then There Were Six

May 6, 2009Research

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…

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RSRT Advisor Makes Significant Discovery

February 22, 2009Research

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…

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