Novel Modulators of Potassium Channels to Treat Fragile X
With funding from FRAXA over 2015-2017, the Yale University team of Leonard Kaczmarek, PhD showed that the firing patterns of auditory neurons in response to repeated stimulation is severely abnormal in Fragile X mice. Based on these results, they are collaborating with the UK-based company Autifony to develop advanced compounds which may reverse these deficits.
Tetra Announces $40M to Advance BPN14770 for FXS and Alzheimer’s Disease
Tetra Discovery Partners has signed a multi-part deal that could bring it up to $160 million, plus royalties, from Shionogi & Co, Ltd, a Japanese major research-driven pharmaceutical company. Tetra currently is conducting an investigational Phase 2 study of BPN14770 in adults with Fragile X Syndrome, an indication for which BPN14770 has received Orphan Drug Designation from the US Food and Drug Administration. This clinical trial was made possible by early work with the FRAXA-DVI and over $200,000 from FRAXA.
Meet Charlie!
Meet #FriendofFRAXA Charlie! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Hope for the Holidays Gala Helps Advance Fragile X Research
The sold-out Hope for the Holidays Gala raised $100K for FRAXA! Huge thanks to the Pierces for their continued generosity and support.
Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X
Caffeine is the most popular smart drug in the world. With a $90,000 grant from FRAXA Research Foundation, Alberto Martire, PhD and Antonella Borreca, PhD in Rome, Italy are investigating adenosine receptors antagonists to treat Fragile X syndrome. Compounds which are able to block adenosine receptors are commonly found in tea, chocolate, and coffee.
Boys Basketball Fundraiser Kicks Off The Season of Giving
60 players and families joined Newton’s 3rd Annual 3-on-3 Basketball Tournament, a fun NAA event full of teamwork and community spirit.
Contacting Your Member of Congress to Advocate for Fragile X Research
Important information about how best to contact your Member of Congress in support of Fragile X advocacy, including tips, recommendations, best practices and how to get contact info for your state senators and representatives.
#GivingTuesday 2018 – Thanks to you!
You did it! The Fragile X community raised over $50K on #GivingTuesday—matched by our Board! Thank you for fueling our annual appeal.
Meet Emily!
Meet #FriendofFRAXA Emily! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Drug Duo Delivers Brain, Behavioral Benefits for Fragile X Syndrome
Administering a cholesterol drug alongside an antibiotic eases atypical behavior and restores the signaling balance in the brains of people with fragile X syndrome.
Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients
With this $20,000 award from FRAXA Research Foundation, Dr. Vanderklish and collaborators at Scripps Research Institute, the University of Chile, and the FLENI Institute in Argentina are analyzing patterns in gene expression in blood cells of patients with Fragile X syndrome. They are using “transcriptomics” which can produce a time-sensitive signature of an individual person. This is the first time that all these different levels of study – from transcriptomics to behavior – have been done for individual patients with Fragile X.
Research Points to Drugs which Inhibit PDE to Treat Fragile X
FRAXA Research Foundation funded a grant of $90,000 over 2016-2018, for a postdoctoral fellowship for Thomas Maurin, PhD, working under the mentorship of Dr. Barbara Bardoni at INSERM in France. The team works on the biochemistry of the Fragile X protein. They have found that PDE inhibitors (a class of drugs) show promise as treatments for Fragile X syndrome. In related research, FRAXA is currently funding a clinical trial of PDE4D inhibitors.
Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model
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.
Fragile X Brothers Two of the Pittsburgh Synagogue Massacre Victims
We mourn Cecil & David Rosenthal, beloved brothers with Fragile X, lost in the Tree of Life tragedy. Their kindness and faith will never be forgotten.
Meet Andy!
Meet #FriendofFRAXA Andy! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Brett Soars To Eagle
Inspired by others, Brett aimed for Eagle Scout. Some badges were tough, but Scouting’s special needs path helped him reach his goal.
Kathan Pierce Named Patriots Difference Maker of the Week!
FRAXA’s Kathan Pierce, co-founder of The Pierce Family Fragile X Foundation, is the 2018 Patriots Difference Maker of the Week!
14th Annual Fragile X Poker Run Raises $12,135 for Fragile X Research!
A record year! The 14th Annual Fragile X Poker Run raised $12,135, highlighted by Mikey’s heartfelt birthday serenade to Amber.
Spectrum News – Newly Discovered Aspects of Fragile X Spur Next Wave of Drugs
Many drugs for Fragile X syndrome have failed in large clinical trials, but candidates that target new aspects of the condition may fare better.
NKCC1 Inhibitor Bumetanide Corrects Synaptic and Circuit Hyperexcitability in Fragile X Mouse Model
With $258,000 in grants since 2013 from FRAXA Research Foundation, Dr. Anis Contractor and Dr. Qionger He at Northwestern University are exploring the potential of the available drug bumetanide to correct altered GABA signalling in a mouse model of Fragile X syndrome.
Non-Invasive Imaging as a Biomarker for Fragile X Clinical Trials
FRAXA Research Foundation has renewed Kamila Castro’s 2017 FRAXA Fellowship for a second year. With this $90,000 award, Kamila Castro and Principal Investigator Dr. Andreas Frick are using non-invasive magnetic resonance imaging (MRI) methodology to assess connectivity changes in the brain in Fragile X. If this project is successful, we will have objective outcome measures to evaluate new treatments, both in mice bred to mimic Fragile X and in human patients.
$16,560 Raised for Fragile X Research at Callum Cup III
Millburn FC’s 3rd Annual Callum Cup raised funds for Fragile X research, honoring Callum Murphy, son of goalkeeper Andrew Murphy.
Mega Green Tea Extract to Treat Fragile X?
Green tea is thought to have many benefits, particularly in cognitive function. In 2012-14, FRAXA Research Foundation funded a clinical trial to assess the effects of EGCG (green tea extract) on cognitive function in adults with FXS. Drs. Rafael de la Torre and Mara Dierssen Sotos, principal researchers in Barcelona, Spain, reported memory, attention, and mental flexibility improvements.
How Promising is CRISPR for Fragile X?
Peter Todd, MD, PhD, Assistant Professor in the Department of Neurology in the University of Michigan Medical School, was 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 cure Fragile X.