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 [...]