Pierce Family Fragile X Foundation Archives • Fragile X Research

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • Current Research Grants • Genetic Rescue • Harvard University • Lee, Hungoo • Lee, Jeannie • Massachusetts General Hospital • Treatment Targets July 11, 2019August 5, 2019iPS, Pierce Family Fragile X Foundation

$90,000 FRAXA Research Grant for 2019 With support from The Pierce Family Fragile X Foundation FRAXA has awarded $90,000 to Dr. Jeannie Lee and Dr. Hungoo Lee at Harvard Medical School and Massachusetts General Hospital. This team is targeting the root cause of Fragile X syndrome: a silenced single gene, called FMR1. With a previous $180,000 grant from FRAXA Research Foundation and The Pierce Family Fragile X Foundation from 2016-2018, the team ran a series of studies aimed at reactivating FMR1. They found a method using combinations of drugs which spur the gene to produce its normal protein product. Using drug "cocktails" they are able to reactivate FMR1 in cells in their lab! Dr. Lee explains in this video. Jeannie Lee, MD, PhD Principal Investigator Hungoo Lee, PhD FRAXA Postdoctoral Fellow Total Funding to This Lab to Date: $270,000 Harvard University Medical School Massachusetts General Hospital by Jeannie Lee, MD, PhDRead more

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • 2019 Grants • Biomarkers • Boston Children's Hospital • Clinical • Current Research Grants • Nelson, Charles A. • Recruiting • Research Updates • Wilkinson, Carol June 5, 2019June 20, 2019autism, EEG, Pierce Family Fragile X Foundation, sound

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.

Recruiting: Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

FRAXA Research Foundation 2018 Grants • 2019 Grants • Berry-Kravis, Elizabeth • Clinical • Clinical Trials • Current Research Grants • Recruiting • Rush University Medical Center February 15, 2019May 13, 2019Alzheimer's, BPN14770, cyclic AMP, FDA, FRAXA-DVI, PDE4, Pierce Family Fragile X Foundation, Tetra Therapeutics

FRAXA Research Foundation has funded a clinical trial of an investigational new drug, led by Dr. Elizabeth Berry-Kravis at the Rush Fragile X Clinic in Chicago. This trial will treat 30 adult males with Fragile X syndrome with a PDE4D allosteric inhibitor from Tetra Discovery Partners using in a crossover design, so that everyone gets active drug for part of the time and placebo for part of the time.

Kathan Pierce Honored as a New England Patriots Difference Maker

FRAXA Research Foundation Events Recap January 7, 2019Pierce Family Fragile X Foundation

FRAXA is proud to announce that one of our board members, Kathan Pierce, was recognized by the NFL’s New England Patriots and team owner Robert Kraft for her tireless volunteerism. We are grateful for Kathan’s contributions to FRAXA, and to the Patriots, who announced they are also awarding a $5,000 grant to FRAXA to support Fragile X research.

Hope for the Holidays Gala Helps Advance Fragile X Research

FRAXA Research Foundation Events Recap December 12, 2018December 12, 2018Pierce Family Fragile X Foundation

On December 8, 2018, a sold-out crowd of 250 people gathered for the 3rd Annual Hope for the Holidays Gala at the Café Escadrille in Burlington, MA, to raise funds for Fragile X research. For the third year in a row, the Pierces presented a check for $100,000 to FRAXA Research Foundation. We are truly grateful for this ongoing, generous support of our mission to find effective treatments and ultimately a cure for Fragile X.

Patriots Foundation Honor Kathan Pierce

Eric Welin December 5, 2018December 5, 2018Pierce Family Fragile X Foundation

Kathan has been invited to take part in a special in-game ceremony at the Patriots final regular season home game against the New York Jets on Sunday, December 30, 2018.

Kathan Pierce Named Patriots Difference Maker of the Week!

FRAXA Research Foundation FRAXA Updates September 28, 2018February 25, 2019Pierce Family Fragile X Foundation

FRAXA Board Member and co-founder of The Pierce Family Fragile X Foundation, Kathan Pierce, has been named this week’s 2018 Patriots Difference Make of the Week! This honor is given by the NFL’s New England Patriots Foundation.

Hope for the Holidays Gala 2018

FRAXA Research Foundation September 14, 2018September 14, 2018Pierce Family Fragile X Foundation

Come enjoy an evening with family and friends as The Pierce Family Fragile X Foundation kicks off the season of giving!

There will be great food, cocktails, music, silent auction, live auction and raffles for your enjoyment.

Make this night part of your holiday traditions!

HEADs UP Act Could Increase Access to Health Care

Dave Bjork Advocacy August 24, 2018autism, Pierce Family Fragile X Foundation

I was recently contacted by my U.S. Congressman, Seth Moulton (Massachusetts 6th District) with a request to support a new bill he’s introduced with Gregg Harper (Mississippi 3rd District).

The Healthcare Extension and Accessibility for Developmentally Disabled and Underserved Population Act, or the HEADs UP Act of 2018 was introduced on the 50th anniversary of the signing of the ADA. This legislation would designate people with Intellectual and Developmental Disabilities (I/DD) as a Medically Underserved Population (MUP).

FRAXA Funded Researchers Present at MA Fragile X Conference

FRAXA Research Foundation Erickson, Craig • Events Recap • Wilkinson, Carol April 9, 2018November 13, 2018AstraZeneca, AZD7325, EEG, Pierce Family Fragile X Foundation

On Saturday Boston Children’s Hospital (BCH) hosted a Fragile X educational conference, Success Strategies for Individuals and Families Impacted by Fragile X and two of our funded researchers, Dr. Craig Erickson, and Carol Wilkinson, MD, PhD, presented giving an update on their current Fragile X clinical trials. Both being funded by FRAXA.

Takeaways from Fragile X Advocacy Day

Dave Bjork Advocacy • Community March 29, 2018August 24, 2018AstraZeneca, AZD7325, cancer, CRISPR, FDA, 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”.

MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

FRAXA Research Foundation 2017 Grants • 2018 Grants • Current Research Grants • Disease Mechanisms • Higashimori, Haruki • Men, Yuqin • Treatment Targets • Tufts University • Yang, Yongjie September 30, 2017August 22, 2018astrocytes, autism, glutamate, Pierce Family Fragile X Foundation

Almost all brain research focuses on neurons – nerve cells. However, the brain has many more glial cells which support, nourish, and protect the neurons. FRAXA Research Foundation awarded a 2017 grant $90,000 to support Dr. Yang’s studies of how changes in glial cells contribute to Fragile X syndrome. This grant is funded by a grant from the Pierce Family Fragile X Foundation.

Investigating Gene Reactivation to Treat Fragile X Syndrome

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Genetic Rescue • Harvard University • Lee, Jeannie • Massachusetts General Hospital • Research Grant with Results September 22, 2017March 27, 2019CRISPR, Pierce Family Fragile X Foundation

With a $180,000 grant from FRAXA Research Foundation from 2016-2017, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome.

Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

J. Dora Levin Biomarkers • Boston Children's Hospital • Clinical • Harvard University • Nelson, Charles A. • Research Updates • Wilkinson, Carol August 17, 2017June 20, 2019Autifony Therapeutics, autism, EEG, hypersensitivity, ion channel, Pierce Family Fragile X Foundation, sleep, sound

Once the neural marker is identified for a particular challenge, such as kids with poor language versus good language, neural markers can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.