Bohring-Opitz Syndrome Foundation, Inc.
"The Best Life for All Families Living with BOS"


What’s Happening

BOS Foundation Funds ASXL1 Research


The Bohring-Opitz Syndrome Foundation is excited to announce that we have made a significant financial gift to the UCLA Foundation to support research. We would like to thank the BOS community for their continued support which made this gift possible. This gift will help to further enhance research regarding Bohring-Opitz Syndrome and positively impact individuals with BOS and their families.

This research project, by Bianca Russell, MD, is in the preliminary stages. The funding that is being provided by the BOS Foundation will be used to build a robust biobank that is instrumental in providing an important tool for researchers around the world. The ability to collaborate with multiple researchers and use these samples to learn more about the underlying genetics of BOS, develop medications and treatments as well as learn about how ASXL1 mutations change the body’s development, are likely to have a direct impact on the care provided to BOS patients.

Latest update on the ASXL Registry: Dr. Russell has created a newsletter she plans to send out within the next month to families in the registry. The BOS Foundation will post the newsletter on the following link : and send a follow-up email to share this information with the BOS community.

Written by the BOS Foundation Board in conjunction with Bianca E. Russell, M.D.