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Test Tubes

LATEST RESEARCH

KEY RESEARCH PUBLICATIONS

WANT TO TAKE PART IN RESEARCH?

Current HUWE1 research taking participants:​

  • Dr. Kristin Barañano at Johns Hopkins University Hospital, USA, is enrolling individuals in an ongoing study involving a structured clinical interview, to better understand HUWE1-related symptoms and to guide clinical management. She invites participation from individuals with HUWE1 from any country; note you will need to participate in a clinical interview in English. She can be reached at kwb@jhmi.edu. This is the most robust way of compiling symptoms and recommendations.

  • HUWE1 RARE-X Data Collection Programparents, caregivers and individuals affected by HUWE1-gene variants can take part in self-report symptom surveys. ​Surveys are currently available in English; participants are invited to take part from around the world.

  • GENROC Study at the University of Bristol, UK: children aged 6 months to 16 years in the UK who have a confirmed HUWE1 genetic variant can take part in this NIH funded study of a range of neurodevelopmental conditions. You can also follow Genroc on Facebook.

Louie's HUWE, the nonprofit for HUWE1, also supports lab based research (currently in progress) - learn more here.

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