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…
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…
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…
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…
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…
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…
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….
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…
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…
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 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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
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. …
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…
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…
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…
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…
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…
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…
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 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…