Deep Molecular Profiling of Fragile X Mouse and Human Cells

Deep Molecular Profiling of Fragile X Mouse and Human Cells

FRAXA Research Foundation has awarded $90,000 to Dr. Joel Richter, Principal Investigator, and Dr. Sneha Shah, Postdoctoral Fellow, at the University of Massachusetts Medical School. They are using human induced pluripotent stem (iPS) cells to analyze gene expression in Fragile X syndrome.

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Targeting Mitochondria in Human Fragile X Syndrome Neurons

Targeting Mitochondria in Human Fragile X Syndrome Neurons

FRAXA Research Foundation has awarded a $90,000 research grant to principal investigator Dr. Xinyu Zhao and postdoctoral fellow Dr. Minjie Shen at the University of Wisconsin. They are investigating whether drugs which boost mitochondria — which provide the energy for cells — could treat Fragile X syndrome. Dr. Zhao explains in this video. With this award, FRAXA has funded almost $1 Million in Fragile X research at the University of Wisconsin!

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20 Landmarks Will Light Up for Fragile X Awareness Day

20 Landmarks Will Light Up for Fragile X Awareness Day

Newburyport, MA (July 15, 2019) — Today, FRAXA Research Foundation announces that 20 buildings, bridges and landmarks across the United States and Canada will be illuminated teal on Monday, July 22, to celebrate International Fragile X Awareness Day. The goal of the initiative is to raise awareness of Fragile X syndrome, the most common inherited cause of autism and learning disabilities worldwide.

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Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

FRAXA Research Foundation and The Pierce Family Fragile X Foundation have awarded a 2019 grant of $90,000 to Dr. Jeannie Lee’s lab at Harvard and Massachusetts General Hospital. They have discovered a method that will reactivate the FMR1 gene by treating cells with a cocktail of small molecules, under a specific regimen in vitro (patent filing pending).

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Patrick’s PALS 23rd Annual Basketball Tournament Raises $140,000 for Fragile X Research

Patrick’s PALS 23rd Annual Basketball Tournament Raises $140,000 for Fragile X Research

Patrick’s PALS has grown from a twelve-team tournament to a 36-team extravaganza! On four half-courts, 18 first-round games set teams on a path to the winners or losers bracket. After that, it was all about staying alive and avoiding elimination by not losing two games. In the end, two veteran teams faced off for the rights to ensure their names would be engraved on the PALS Trophy: the multiple-past-champion Kline Team and the always-in-the-mix Gray Team (pictured above). Gray entered the finals with one loss, so they needed to beat Kline twice. That they did to become the Champions of Patrick’s PALS XXIII!

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Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X

Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X

CONNECT-FX (Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X) is a newly initiated multi-national, randomized, double-blind, placebo-controlled, 14-week trial, sponsored by Zynerba Pharmaceuticals. It is now enrolling patients ages 3 through 17 years with full mutation Fragile X syndrome, to evaluate the efficacy and safety of an investigational CBD gel (ZYN002).

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Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1

Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1

FRAXA has awarded a $90,000 grant to Carlos Portera-Cailliau, PhD and Nazim Kourdougli, PhD at UCLA to investigate whether a novel drug can rescue sensory processing deficits in Fragile X mice. People with Fragile X have similar problems in sensory processing. This new drug acts on Kv3.1, a promising Fragile X treatment target also being pursued by UK-based Autifony Therapeutics based on FRAXA-funded research done at Yale.

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Gene Therapy Translational Studies for Fragile X Syndrome

Gene Therapy Translational Studies for Fragile X Syndrome

With a $90,000 award from FRAXA Research Foundation, Drs. Ernest Pedapati, Christina Gross, and student Lindsay Beasley will pursue preclinical gene therapy approaches for treating Fragile X syndrome at Cincinnati Children’s Hospital.

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Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7

Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at Boston Children’s Hospital are recruiting children ages 2-7 years with Fragile X syndrome to join a study of brain differences using non-invasive EEG.

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Recruiting: Clinical Trial of Metformin for Fragile X Syndrome

Recruiting: Clinical Trial of Metformin for Fragile X Syndrome

Metformin is commonly prescribed to control high blood sugar in type 2 diabetes. With a $50,000 grant from FRAXA Research Foundation, Dr. Artuela Çaku and Dr. Francois LePage are conducting an open-label clinical trial of metformin for children and adults with Fragile X syndrome, at the University of Sherbrooke in Canada.

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FRAXA and Healx Planning Clinical Trials of Combination Treatments

FRAXA and Healx Planning Clinical Trials of Combination Treatments

Conducting Fragile X clinical trials of combination treatments can be a daunting task, since the number of possible combinations increases exponentially with the number of drugs and the various doses of each one. So Dr. Tranfaglia traveled to Cambridge, England, to meet with the scientists and advisors at Healx to brainstorm the best approaches to this challenge, with the aim of moving ahead as quickly as possible.

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Developmental Profile of Glutamatergic Synapses in Fragile X

Developmental Profile of Glutamatergic Synapses in Fragile X

FRAXA Research Foundation has awarded a $90,000 research fellowship to Dr. Tue Banke. With this award, Dr. Banke is investigating how glutamate receptors at neuronal synapses – essential building blocks of learning and memory – are impacted in Fragile X syndrome. Dr. Banke recently left Aarhus University in Denmark to continue his research first as a visiting scholar and now as an assistant professor at the University of Washington.

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Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

FRAXA Research Foundation and the Fragile X Research Foundation of Canada have awarded a grant of $100,000 over two years to Dr. Raymond Turner at the University of Calgary in Alberta, Canada. Dr. Turner and postdoctoral fellow Xiaoqin Zhan, PhD are attempting to reactivate a segment of FMRP to reverse symptoms of Fragile X in a mouse model of the disease to reduce abnormal behaviors.

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Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

Dr. Stephanie Barnes has been investigating the role of NMDA receptors as a FRAXA Postdoctoral Fellow in Dr. Emily Osterweil’s laboratory at the University of Edinburgh from 2016-2018. With an additional year grant from FRAXA, she is now continuing her work to identify novel targets and test pharmacological therapies in the Fragile X mouse model at the Picower Institute at MIT with Dr. Mark Bear.

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Fragile X Syndrome Drug Validation Initiative (FRAXA-DVI)

Fragile X Syndrome Drug Validation Initiative (FRAXA-DVI)

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing of potential new Fragile X treatments. FRAXA has funded FRAXA-DVI for $50,000 or more per year since 2012.

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FRAXA Biotech Games, the Beginning of Something Great

FRAXA Biotech Games, the Beginning of Something Great

On September 20, 2018, FRAXA Research Foundation held the First Annual FRAXA Biotech Games™. The event was a “friendly” competition between greater Boston biotech companies and affiliated industry partners and vendors in a series of fun backyard lawn games. 42 teams of 4 players each played cornhole, KanJam, ladder golf and bucketball. Our goal was to establish an annual event in Cambridge, MA, that would unite the biotech community for an afternoon of fun competition, and raise money for biomedical research. We look forward to having them all back on September 19, 2019, at the Kresge Oval at MIT. Registration and sponsorships for the 2019 FRAXA Biotech Games Cup are available now!

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