More Than a Case of Fragile X
Colleen McGavin, a student at the University of Michigan Medical School, explains to the medical community that her brother with Fragile X is not just "a case of Fragile X" but a "beautiful, complex, vulnerable, [...]
NFXF Founder Receives Distinguished Scholarly Public Service Award
"I can think of no one more deserving of this honor. Although a physician and scientist, Randi is a public servant in the true sense of the title. Her passion to bring positive change to the lives of individuals and families impacted by Fragile X and autism sets the bar. We at the National Fragile X Foundation are proud to carry on the work that Randi started 30 years ago when she established the NFXF. The families we serve sleep better at night knowing that Randi is on the job. We offer our most heartfelt congratulations and thanks to Randi on the occasion of this well deserved award." said Jeffrey Cohen, NFXF interim executive director.
14th International Fragile X Conference Q&A
Featuring: Holly Usrey-Roos & Nicole Schweizer Recorded: March, 25, 2014
The Fragile X Clinic: What Does It Mean For You?
At our clinic in Boston we often hear families ask why they should go to a Fragile X clinic if they are happy with the care they are currently receiving from their local providers. The main reason is that our clinics specialize in all things Fragile X—we get you and your child. Everyone here—clinicians, genetic counselors, social workers, therapists, and all other members of the clinic—knows Fragile X syndrome (FXS).
Novartis Announces Results of Mavoglurant (mGluR5) (AFQ056) Clinical Trials and the Conclusion of the Long-Term Extension Study
Earlier this month Novartis released results of the Phase IIb/III studies with mavoglurant (AFQ056) in adolescents with Fragile X syndrome (FXS). The trial results from the study of adults were released late last year. Both studies did not meet [...]
Progressive Neurodegenerative Disorder (FXTAS) Linked to R-loop Formation, UC Davis Researchers Find
Researchers at UC Davis have identified a new feature of the genetic mutation responsible for the progressive neurodegenerative disorder Fragile X-associated tremor/ataxia syndrome (FXTAS) — the formation of “R-loops,” which they believe may be associated with the disorder’s neurological symptoms, such as tremors, lack of balance, features of Parkinsonism and cognitive decline.
Knott's Berry Farms and Disneyland Discounts
Outside of your Conference itinerary, if you are interested in visiting Disneyland Resort Theme Park and/or Knott's Berry Farm while attending the 14th International Fragile X Conference, this is the place to get discount tickets! [...]
Parent-Implemented Spoken Language Intervention
We are recruiting a small group of mothers and their children with Fragile X syndrome, between the ages of 10- and 17-years, to participate in a pilot study of a parent-implemented language intervention. The goal of this project is to teach each mother strategies which can be used to support spoken language development in their child with Fragile X syndrome.
New Test Makes Parkinson's-like Disorder of Middle Age (FXTAS) Detectable in Young Adulthood
The very earliest signs of a debilitating neurodegenerative disorder, in which physical symptoms are not apparent until the fifth decade of life, are detectable in individuals as young as 30 years old using a new, [...]
You Can Help by Donating an Item to Our Conference Auction!
The 14th is full of fun activities, including a Saturday night auction where you can bid on one-of-a-kind items. You can make the auction even better by donating a special item to our [...]
National Fragile X Advocacy Day: Speaking for Herself
2014 marked the 11th National Fragile X Foundation Advocacy Day (NFXFAD) in Washington, DC. Over the past 11 years, our annual advocacy efforts have resulted in nearly $300 million in funding for Fragile X research and clinical support. On March 4th and 5th, nearly 170 advocates participated in more than 160 meetings on Capitol Hill. Your donations played a vital role in funding the NFXFAD program and ultimately made our time in DC a success.
Examining Factors that Lead to Positive Family Adaptation to Fragile X Syndrome
Family adaptation is the process by which parents and other family members adjust, accommodate, or transform their roles and responsibilities to better meet current demands. All families must change and adapt over time, but this [...]
Thank You Again to All of Our 2013 Fundraising Event Partners!
It’s always fun to look back and see the impressive list of events that so many enthusiastic, creative and energetic fundraisers put on each year. And 2013 was amazing! You can just feel the FUN that was had by all!
Greater Chicago Newsletter: Spring 2014
Research Update Meeting March 22, 2014 1-4 P.M. Dr. Elizabeth Berry-Kravis will speak about current and upcoming research opportunities! The event is being hosted by Avis Primack Location 51 Old Oak Drive Buffalo Grove, IL [...]
Senate Sends Pediatric Research Bill to President’s Desk
The bipartisan “Gabriella Miller Kids First Research Act”—a bill authored by U.S. Rep. Gregg Harper with co-authors U.S. Reps. Peter Welch and Tom Cole—is heading to the president’s desk. The bill funds pediatric medical research [...]