cancer Archives • Fragile X Research - FRAXA Research Foundation

Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

University of Rochester Medical Center Kurosaki, Tatsuaki • Maquat, Lynne • Research Grant Results • Research Updates • University of Rochester February 3, 2021February 17, 2021cancer, drug repurposing, mRNAs, NIH

This FRAXA-funded project has turned up some surprising results. At first, it might seem Kurosaki and Maquat have found yet another cellular process which is malfunctioning in Fragile X. But this finding is intimately related to previous findings of abnormal protein synthesis and misregulated transcription in Fragile X. FMRP (the protein lacking in Fragile X syndrome) is involved in chaperoning messenger RNAs within cells to active sites, and in controlling their translation into many different proteins. Some of these proteins are transcription factors, which feed back to the nucleus to control gene expression.

Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

FRAXA Research Foundation Jin, Peng • Seminar Series • Wen, Zhexing December 8, 2020December 8, 2020autism, cancer, DOD, epigenetics, FXPOI, FXTAS, mRNAs, NIH, organoid

Dr. Zhexing Wen and Dr. Peng Jin of the newly funded Fragile X Center of Excellence at Emory University School of Medicine join us in this seminar to present about Understanding the Role of FMRP in Human Brain Development Using Brain Organoids.

Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

FRAXA Research Foundation November 11, 2020December 8, 2020autism, cancer, DOD, epigenetics, FMRP, FXPOI, FXTAS, mRNAs, NIH, organoid

A virtual seminar series focused on current topics in Fragile X research. Dr. Zhexing Wen and Peng Jin, PhD will present about the role of FMRP in human brain development using brain organoids.

Scientists Find a New Way to Reverse Symptoms of Fragile X

FRAXA Research Foundation Bear, Mark • McCamphill, Patrick • Research Updates • Senter, Rebecca May 20, 2020May 26, 2020Alzheimer's, autism, cancer, glutamate, GSK3, hyperexcitability, hypersensitivity, lithium, mGluR, mGluR5, NIH, seizure

FRAXA Investigator and MIT Professor Mark Bear and his colleagues have identified a valuable new target for Fragile X therapeutics: GSK3 alpha. Several FRAXA research teams previously identified GSK3 beta as a treatment target for Fragile X. The catch is that, so far, GSK3 beta inhibitors have proven too toxic for regular use. Dr. Bear’s new discovery opens up the possibility of developing more selective compounds with less toxicity and fewer side effects. Interestingly, lithium inhibits both GSK3 versions – alpha and beta.

Bear lab (Bear 3rd from left, McCamphill on right)

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

James & Pamela Vershbow Events Recap July 10, 2019July 23, 2019cancer, Patrick's PALS

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!

Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

FRAXA Research Foundation 2017 Grants • 2018 Grants • Current Research Grants • Disease Mechanisms • Gantois, Ilse • McGill University • Sonenberg, Nahum • Treatment Targets November 2, 2018November 20, 2018Alzheimer's, autism, cancer, Fragile X Research Foundation of Canada, metformin

This 2017-2018 grant of $90,000 is funded jointly by FRAXA and the Fragile X Research Foundation of Canada for the first year. A previous FRAXA grant to the Sonenberg lab has led to great interest in the available drug, metformin, as a potential treatment for Fragile X syndrome. FRAXA is currently organizing clinical trials of metformin.

Takeaways from Fragile X Advocacy Day

Dave Bjork Advocacy • Community March 29, 2018August 24, 2018AstraZeneca, AZD7325, cancer, CRISPR, drug repurposing, FDA, NIH, Pierce Family Fragile X Foundation

In the first week of March I attended my first Fragile X Advocacy Day to meet with many of the Massachusetts delegation to Congress. While this was my first time advocating for Fragile X research, I’ve been a longtime lung cancer research advocate and have met with many of the same representatives in the past. It was a pleasure to meet with many of the families as my participation in Advocacy Day was in the spirit of “we are all in this together”.

Impact of the Fragile X Community

Dave Bjork Erickson, Craig • Events Recap • FRAXA Updates • Huber, Kimberly • Richter, Joel • Warren, Stephen February 2, 2018July 9, 2018cancer, hyperexcitability, NIH

At FRAXA Research Foundation, we are truly grateful for our Fragile X community and thousands of donors. We couldn’t keep moving the ball forward in research without your support. Each year FRAXA invests over $1 million in Fragile X research thanks to your support. Because we supported these three researchers, we were able to secure another $35 million in research aimed at identifying clinical trial outcome measures that will lead to human trials of promising treatments for those affected by Fragile X.

Metformin, Diabetes Drug, Potential Fragile X Treatment

Theodore Coutilish Drug Repurposing • McGill University • Research Updates • Sonenberg, Nahum May 18, 2017January 9, 2019autism, cancer, matrix metalloproteinase, metformin, MMP9, Roche, sleep

“We treated mice with metformin and corrected all the core Fragile X deficits. We are optimistic about using metformin in human clinical trials. This is a generic drug with few side effects” says Nahum Sonenberg, PhD, James McGill Professor, Department of Biochemistry, McGill Cancer Center, McGill University.

Nahum Sonenberg, PhD, 2017 Fragile X Research Grant

Bryostatin Restores Learning and Memory in Adult Fragile X Mice

FRAXA Research Foundation Research Updates March 11, 2015December 26, 2019Alzheimer's, BDNF, cancer, FRAXA-DVI, GSK3, PSD-95

A bizarre marine critter found off the California coast — Bugula neritina— is the only known source of a potential new Fragile X treatment, Bryostatin. Last month, FRAXA sat down with scientists from Neurotrope BioScience, a specialty biopharmaceutical company developing medicines for rare diseases and Alzheimer’s based on Bryostatin. Their Fragile X program is based on research by a West Virginia team led by Daniel Alkon, MD, which showed that Bryostatin-1 restores hippocampal synapses and spatial learning and memory in adult Fragile X mice.

Fragile X Syndrome Protein Linked to Breast Cancer Progression

FRAXA Research Foundation Bagni, Claudia • Research Updates September 18, 2013December 26, 2019cancer, mRNAs

Claudia Bagni (VIB/KU Leuven, Belgium, and the University of Rome, Italy) and colleagues have identified the way Fragile X Mental Retardation Protein or FMRP contributes to the progression of breast cancer. The researchers demonstrated that FMRP acts as a master switch controlling the levels of several proteins involved in different stages of aggressive breast cancer, including the invasion of cancer cells into blood vessels and the spread of these cancer cells to other tissues forming metastasis.

What Works, and What Doesn’t

Michael Tranfaglia, MD Research Updates September 7, 2012December 13, 2019Alzheimer's, AMPAkines, autism, BK channel, cancer, ERK, GABA, GSK3, lithium, mGluR5, minocycline

At the start, it’s always hard to know what methods will work best for something as complex as the development of disease-modifying treatments for Fragile X. But, we’ve always tried to let the science lead us down the right path. At this point, the results are unequivocal, and they have shaped how we are looking for the Next Great Thing in Fragile X treatments.

Genetic and Pharmacologic Manipulation of PI3K Activity in FXS: Assessing Potential Therapeutic Value

FRAXA Research Foundation 2011 Grants • 2012 Grants • Bassell, Gary • Completed Research Grants • Disease Mechanisms • Emory University • FRAXA Research Grants • Gross, Christina • Muddashetty, Ravi • Treatment Targets September 2, 2012February 22, 2019cancer, mRNAs, mTOR

With a $90,000 grant from the FRAXA Research Foundation, Dr. Gary Bassell and his team at Emory University explored the PI3K/mTOR signaling complex in FXS via genetic and pharmacologic rescue approaches, to reduce the enzymatic function of specific components of this complex pathway in an FXS mouse model.

FMR1 Repression and the Signals to Chromatin

FRAXA Research Foundation 2001-2005 Grants • Completed Research Grants • Disease Mechanisms • El-Osta, Assam • Peter MacCallum Cancer Institute, Australia February 26, 2003May 16, 2018cancer, Rett syndrome

With a $70,000 grant from FRAXA Research Foundation from 2001-2003, Dr. Assam El-Osta and his team at the Peter MacCallum Cancer Institute studied mechanisms of methylation dependent silencing of FMR1, as well as regulation by histone acetylation/deacetylation.

Assam El-Osta, PhD, at Peter MacCallum Cancer Institute, Australia, FRAXA research grant

Prospects For Gene Therapy in the Fragile X

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • Completed Research Grants • Genetic Rescue • New York State Institute for Basic Research • Rattazzi, Mario February 27, 2002August 13, 2018Adeno-associated virus, cancer, TAT (Trans-Activator of Transcription)

With a $90,000 grant from FRAXA Research Foundation from 2000-2002, Dr. Mario Rattazzi at the New York State Institute for Basic Research explored gene therapy: ways to transfer the FMR1 gene across the blood-brain-barrier in normal rats and mice, and then in FMR1 knockout mice. Results published.