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This series of on-demand videos helps anyone seeking a clearer understanding of Fragile X syndrome and the Fragile X premutation.
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Through personal stories, this Keynote panel of speakers delves into the boundless potential and opportunities realized by those living with Fragile X. Learn how individuals and families have navigated challenges, uncovered strengths, and forged inspiring pathways and connections.
Experts discuss the unique health, wellness, puberty, and fertility considerations for girls and women with Fragile X syndrome (FXS), including how needs can vary widely across individuals. Panelists discuss guidance on puberty conversations, reproductive healthcare, emotional wellness, sleep, exercise, and supporting independence.
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This series of on-demand videos helps anyone seeking a clearer understanding of Fragile X syndrome and the Fragile X premutation.
Barbara Haas-Givler and Cora Taylor discuss executive functioning in individuals with both the Fragile X full mutation and the premutation, including what executive function is and strategies to support individuals.
Dr. Heather Hipp, a reproductive endocrinologist at Emory University, discusses reproductive considerations for women with a Fragile X premutation, including FXPOI and the process for diagnosis.
The NFXF hosted an informative webinar featuring Dr. Elizabeth Berry-Kravis, who shared updates on the CDC-funded FORWARD-MARCH study and new insights into Fragile X syndrome and premutation health.
En este vídeo de 90 segundos, respondemos a la pregunta más frecuente: “¿Qué es el síndrome del cromosoma X frágil?”, explicando en qué consiste este síndrome, la premutación y las afecciones asociadas, así como la forma en que se hereda.
Descubre qué es la premutación del síndrome del cromosoma X frágil en tan solo 90 segundos. Este breve video animado de la Fundación Nacional del Síndrome del Cromosoma X Frágil explica cómo la premutación del cromosoma X frágil afecta a las personas y a las familias, y por qué es importante concienciar sobre este tema.
How Fragile X syndrome is inherited is a very common question and one of the first things a newly diagnosed family asks. Let’s be clear — Fragile X is an inherited condition.
Learn what the Fragile X premutation is in just 90 seconds. This short animated video from the National Fragile X Foundation explains how the Fragile X premutation affects individuals and families — and why awareness matters.
These conference sessions explore new insights into Fragile X premutation carriers, including cognitive profiles in school-age children, healthcare experiences of women with FXPOI, one-year progression of FXTAS, and tremor characteristics in FXTAS vs. non-FXTAS premutation carriers.
Explore cutting-edge Fragile X premutation research uncovering how RAN translation and CGG repeat RNA toxicity drive FXTAS neurodegeneration, and how the epigenetic regulator Tet2 influences ovarian dysfunction in premutation carriers — highlighting new mechanisms and therapeutic targets. With Kate Shelly and Samantha Grudzien.