FXTAS Archives • Fragile X Research - FRAXA Research Foundation

National Institutes of Health Releases Fragile X Strategic Plan

Elle Skala Advocacy • FRAXA Updates November 15, 2019January 20, 2020FXPOI, FXTAS, NIH

FRAXA Program Coordinator, Elle Skala, and long time FRAXA supporter and previous Board Member, Mary Beth Busby, traveled to the National Institutes of Health earlier this week. The timing of this meeting was perfect because the National Institutes of Health (NIH) just released their long-anticipated Strategic Plan for Fragile X Syndrome, FXTAS, and FXPOI. It will guide federal Fragile X research funding for at least the next five years and open the door for continued funding of the Fragile X Research Centers of Excellence.

Elle Skala, Tracy King, Christie Rogers, Mary Beth Busby

NIH Releases Fragile X Research Centers Funding and Strategic Plan Draft

FRAXA Research Foundation Advocacy June 5, 2019June 6, 2019FXPOI, FXTAS, NIH

The NIH has just posted their draft Fragile X research strategic plan for public comment. The NIH also released bridge funding for Centers for Collaborative Research in Fragile X, at the University of Massachusetts Medical School, Emory University, and the University of Texas at Southwestern.

How Promising is CRISPR for Fragile X?

Dave Bjork Research Updates • Todd, Peter August 14, 2018February 12, 2019CRISPR, FXTAS, mGluR, mRNAs, NIH, PSD-95

Peter Todd, MD, PhD, Assistant Professor in the Department of Neurology in the University of Michigan Medical School, was recently awarded a FRAXA Research Grant for gene reactivation with the use of CRISPR. In this interview he tells us about CRISPR in Fragile X research, how realistic is it that it could turn the Fragile X gene back on, and if it can really be a cure for Fragile X.

Fragile X Mutant Mouse Facility

FRAXA Research Foundation 2006-2010 Grants • 2011 Grants • 2012 Grants • 2014 Grants • 2015 Grants • 2016 Grants • Baylor College of Medicine • Disease Mechanisms • Nelson, David • Resources September 10, 2016February 20, 2018FXTAS, mRNAs

With $375,000 in grants from the FRAXA Research Foundation since 2009, Dr. David Nelson has developed an impressive array of advanced mouse models of Fragile X, at Baylor College of Medicine. These models are available to investigators worldwide on request. This resource has been essential for a broad, rapid distribution of Fragile X and related gene mouse models and has increased the pace of Fragile X research.

University of Michigan researcher Peter Todd, MD, PhD, Aims to Selectively Turn the Fragile X Gene Back on in Human Cells

Theodore Coutilish Research Updates • Todd, Peter • University of Michigan June 13, 2016December 26, 2019CRISPR, FXTAS, sound

Fish like salmon are born in fresh water streams and rivers. When the time comes for them to breed, they return to the stream of their birth to lay eggs in the same spot where they were born. To accomplish this, they must swim upstream against the current or flow of the stream. Taking a page out of the salmon DNA playbook, University of Michigan scientists Peter Todd, MD, PhD, and postdoctoral fellow Jill Haenfler, Ph.D., are exploring unchartered waters to find a cure for Fragile X Syndrome. The researchers are adapting CRISPR research to reactivate the FMR1 gene, which provides instructions for making a protein called FMRP — needed for normal brain development.

Researcher David Nelson, PhD, Explores New Cell Strategies for Fragile X Syndrome, FXTAS and FXPOI

Theodore Coutilish Nelson, David • Research Updates May 31, 2016December 26, 2019FXPOI, FXTAS, NIH

It’s rare to find a researcher working on the Big Three — Fragile X Syndrome (FXS), Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI). Then again, David Nelson, PhD, is the rare bird. Nelson is a professor of Molecular and Human Genetics, Baylor College of Medicine, and director of Baylor’s Graduate Program in Integrative Molecular and Biomedical Sciences. He has been involved in FXS research since the late 1980s where he helped identify the mutation and the FMR1 gene. These days, researchers in Nelson’s lab at Baylor are studying FXS, FXTAS and FXPOI using mouse models.

NIH Awards $35 Million to Three Fragile X Research Teams

FRAXA Research Foundation Advocacy • Research Updates September 23, 2014January 22, 2020FXPOI, FXTAS, hyperexcitability, NIH, seizure, sound

The National Institutes of Health has just announced new awards of $35 million over five years to support three Centers for Collaborative Research in Fragile X. Investigators at these centers will seek to better understand Fragile X-associated disorders and work toward developing effective treatments. All of these scientists have been funded for years by FRAXA Research Foundation, and now each team will receive over $2 million per year for five years!

Kimberly Huber, Ph.D., FRAXA Investigator

What Treatments Work for FXTAS?

Michael Tranfaglia, MD Community March 25, 2014December 26, 2019Alzheimer's, FXTAS, glutamate, NIH

Many older family members in the Fragile X community are affected by FXTAS (Fragile X-associated Tremor/Ataxia Syndrome). We all hope that knowing the underlying cause of neurodegenerative symptoms in FXTAS will help in the development of specific treatments over the long term. In the short term, we would also hope that having a specific diagnosis would help us to identify particular available treatments which might be more effective than others.

Small Molecules To Target r(CGG) Expansions to Treat Fragile X Syndrome

FRAXA Research Foundation 2012 Grants • 2013 Grants • Disney, Matthew • FRAXA Research Grants • Genetic Rescue • Research Grant Results • Treatment Targets • Yang, Wang-Yong January 24, 2014July 29, 2020FXTAS, mRNAs, NIH, RNAi

With a 2-year, $90,000 grant from FRAXA Research Foundation, Dr.’s Matthew Disney and Wang-Yong Yang worked to correct the underlying problem in Fragile X: the silencing of the Fragile X gene (FMR1) and the resulting lack of FMRP (Fragile X Mental Retardation Protein). Their approach was to use novel small molecules to target the abnormal CGG repeats before the FMR1 gene.

Efficient Screening for Pharmaceutical Amelioration of FXS Behavioral Deficits in Drosophila

FRAXA Research Foundation 2006-2010 Grants • 2011 Grants • Disease Mechanisms • Institute of Cellular and Developmental Biology • Kanellpoulos, Alexandros • Research Grant Results • Skoulakis, Efthimios • Treatment Targets January 30, 2012May 18, 2020fenobam, fruit fly, FXTAS, glutamate

With a $112,250 grant from FRAXA Research Foundation over 3 years, Dr. Efthimios Skoulakis and his team from the Institute of Cellular and Developmental Biology conducted the first FRAXA project in Greece, where they developed a speedy new test for learning problems in fruit flies, which allowed them to test a number of drugs that are potential Fragile X treatments.