Participate in a research study

Help us better understand ASXL-related disorders

Join the unique research opportunities at the ASXL Family Conference

Multiple research studies will be enrolling participants and collecting critical data to help us better understand ASXL-related disorders. The ASXL Family Conference presents an incredible and unique opportunity to complete hands-on, direct assessments of multiple individuals with Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome.

Many additional details are forthcoming about how to participate in research studies at the ASXL Family Conference, including the consent process and what each study entails.

If you are interested in participating in research activities, please take our interest survey as soon as possible!

How to get ready to participate in research

  1. Enroll or check your enrollment status in the ASXL Patient Registry at UCLA. Most studies collecting data at the ASXL Family Conference store their data with the ASXL Patient Registry so enrolling in this study is the first step to participating in other studies. To enroll or check your enrollment status, email the registry coordinator Julia Sloan at asxl-chromatin-registry@mednet.ucla.edu. The UCLA team will also help verify what studies your family may be eligible to participate in based on your loved one’s genetic report.

  2. Plan to come early! If your loved one is eligible for the direct assessment studies, these can take several hours to complete. Plan to be in Baltimore on Thursday, July 18 or Friday, July 19 so your loved one can be assessed before the conference starts so you don’t miss any family events on Saturday and Sunday!

  3. If your affected child has siblings, consider including your other children in research activities including the collection of biological samples (a blood sample). If your affected child has a sibling that is the same sex and close to the affected child’s age, a sample from that sibling is of particular interest to the research community.

  4. Get a Clinical Research ID (CRID). A CRID is unique identification number generated and known only to the research participant. This ID number allows researchers to merge data across research projects without any personally identifying information from the participant. Getting a CRID is a simple online process that takes 2-3 minutes at thecrid.org. Get your CRID now so you’re ready when study enrollment starts!

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