Participate in a research study

Help us better understand ASXL-related disorders

Join an ASXL research study

Multiple research studies are enrolling participants and collecting critical data remotely to help us better understand ASXL-related disorders. Please take our brief research interest survey and someone from our team will follow up with you with next steps to help you get enrolled in the most appropriate studies for you and your family. If you still aren’t sure where to start, call or text us at 207-881-8080.

Get your unique ID number to use across research studies

Help multiple studies share data to give us a fuller picture of ASXL-related disorders

Published research from data and samples collected at previous ASXL Family Conferences

  • A picture taken from underneath two people who are walking side by side on a translucent platform

    Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3)

    Clinical research study documenting the neurological and motor features of Bohring-Opitz Syndrome and Bainbridge-Ropers Syndrome using data collected at the 2022 ASXL Family Conference

    Read the study
  • Close up of vials in a research tray with a pink substance being pipetted into the vials

    Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

    Research study examining the mechanism of the ASXL1 gene using blood and skin samples collected at previous ASXL Family Conferences

    Read the study
  • A rendering of an upclose image of a strand of DNA

    DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

    Research study using ASXL1, ASXL2, and ASXL3 samples collected at previous ASXL Family Conference

    Read the study

Thank you to our event sponsors!

  • Lauren and Jimmy Adams

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  • Leo's Lighthouse

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  • Jamie and Daniel Ordower

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  • Ultragenyx

    Partner ($500)

  • 4imprint One by One program

    Partner ($500)

  • Costco

    In-kind support