Mauricio Jose Bishoff
Mauricio Jose Bishoff was nominated by one of his clinicians Lina Rosa
- What is Fragile X
-
-
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
-
- Fragile X Syndrome
-
- The Fragile X Premutation
-
-
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.
-
Fragile X-Associated Conditions
- Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)Fragile 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.
-
-
-
- Resources
-
-
Find a Provider
- Fragile X Clinic FinderFragile X clinics provide specialized medical care and multidisciplinary services tailored to individuals with FXS and FXTAS. Easily locate U.S. clinics based on location, condition, and age. You can also find international clinics and support organizations listed by country.
- FXS Clinics
- FXTAS Clinics
- International Clinics
-
- Research
-
-
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.
-
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.
-
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.
-
-
- Get Involved
-
-
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.
- Ways to GiveOther ways you can make a contribution and support our mission.
-
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.
-
-
- About NFXF
-
-
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.
-
-
- Blog
- Información en español
- NFXF Shop
- Donate