Cecilia Bouska
Children's National Hospital
Genetic Counselor
Cecilia Bouska, MS LCGC, is a genetic counselor at Children’s National Hospital in Washington, DC.
- What is Fragile X
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Talking about Fragile X
Fragile X is complex and can be challenging to explain. We developed handy talking points that make it easier to share information, spread awareness, and start conversations with the people in your life.
- 31 Shareable Facts About Fragile X
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- Fragile X Syndrome
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- The Fragile X Premutation
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The Basics
- The Fragile X PremutationThe Fragile X premutation is one type of mutation within the Fragile X FMR1 gene. As many as 1.5 million people in the U.S. have the premutation, many unknowingly.
- Reproductive ResourcesFamily planning resources include carrier screening, reproductive options, and associated costs.
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Fragile X-Associated Conditions
- What is FXTAS? Your Questions AnsweredFragile X-associated tremor/ataxia syndrome, or FXTAS, is a late-onset neurodegenerative disorder seen more commonly in males.
- Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)Fragile X-associated primary ovarian insufficiency, or FXPOI, causes the ovaries to lose their normal function.
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- Resources
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- Research
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Participate
- Research OpportunitiesSearch for a Fragile X study or trial that’s right for you.
- The International Fragile X Premutation RegistryLearn more about the registry and begin your enrollment.
- FORWARD-MARCH Database and RegistryStudies made possible because of the database, and how you can participate.
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Learn more
- Research News & ResultsCurated summaries of important Fragile X research studies.
- NFXF Research ArticlesOriginal research written by FXCRC and NFXF professionals addressing critical needs in research and treatment.
- Research 101The ultimate guide for understanding Fragile X research and treatment development.
- Patient-Focused Drug Development Meeting for FXSThe recording and final report from our FDA PFDD meeting for Fragile X syndrome.
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For Researchers
- NFXF Research Readiness ProgramOur support and facilitation services for researchers.
- NFXF Data RepositoryProviding previously inaccessible data to researchers and investigators.
- NFXF Research AwardsBecome a Randi J. Hagerman Summer Scholar or NFXF Junior Investigator.
- International Fragile X Premutation Registry Recruitment RequestApply to utilize the registry for your recruitment purposes.
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- Get Involved
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The Fragile X Community
- Xtraordinary IndividualsMeet Xtraordinary individuals who are making a difference.
- NFXF Community Support NetworkFind an NFXF chapter, community partner, or community contact.
- Meet Our DonorsMeet some inspiring community members providing unwavering support for all Fragile X families.
Donate
- Donate to the NFXFMake a real difference in the lives of ALL those impacted by Fragile X.
- Find a FundraiserSupport Fragile X community members leveraging their personal networks to advance our mission.
- Ways to GiveOther ways you can make a contribution and support our mission.
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Advocacy
- Advocacy ProgramsYour participation moves the needle for important research funding and policies.
- NFXF Advocacy DayShow up, tell your story, and educate Congress on the practical ways they can help make a difference.
Events
- Fragile X Awareness MonthWe do this every day, but July is a special month to make a concerted effort!
- X StridesEnjoy your favorite way to move while raising awareness and funds.
- NFXF International Fragile X ConferenceThe premier educational event for the Fragile X community.
- Events CalendarUpcoming webinars and local events.
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- About NFXF
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The Organization
- Our Mission and VisionWe serve all those living with Fragile X with a focus on advocacy, education, research, and treatment, with community at the heart of everything we do.
- Financials and ImpactAudited financial statements, government certifications, independent certifications, and an annual impact report based on our audited financial statements.
- Corporate SponsorsCorporate sponsors support our current programs and strategic initiatives.
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- Blog
- Información en español
- NFXF Shop
- Donate