ASXL1 Awareness Day is a big day for a little populations-- so far, just about 150-200 individuals are identified as having ASXL1, or Bohring-Opitz Syndrome. It's one of a trio: ASXL1, ASXL2 and ASXL3. 1/
COMBINEDBrain
@combined_brain
Consortium for Biomarkers and Outcome Measures for Neurodevelopmental Disorders
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Great news, & great exposure for Angelman.
📰 A new article in the Wall Street Journal profiles FAST and its innovative approach to make cutting-edge clinical treatments available to everyone who needs them.
Read the article here:
buff.ly/3KAwi2dView quoted post on X
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NHGRI’s Clinical Director @BenjaminSolomo2 first fell in love with genetics and genomics in the 7th grade. In medical school, he admired geneticists who were determined to help diagnose patients.View quoted post on X
Bohring-Opitz Syndrom is one of three ASXL conditions: ASXL1 ASXL2 and ASXL3
The features and abilities of people with Bohring-Opitz Syndrome varies greatly. We do not yet know why there is broad variation in features and abilities. 1/
The features and abilities of people with Bohring-Opitz Syndrome varies greatly. We do not yet know why there is broad variation in features and abilities. 1/
youtu.be/zQjNsXg7FwYICY…, replay this webinar on our biobank & partnership with Syngap Research fund for SYNGAP1. Biorepositories--banks of samples--are a powerful tool for medical research.