university of michigan
Dr. Stephanie Bielas runs the Bielas Lab at the Department of Human Genetics (University of Michigan Medical School). She is currently studying BRS and developing advanced modeling in efforts to provide functional and clinical relevance to a number of neuro-developmental disorders.
Leo’s Lighthouse has begun funding Dr. Bielas’s lab, which is conducting research on inhibiting ubiquitin on histone H2A, which could possibly improve the quality of life someday for those suffering from ASXL3 mutations.
BAINBRIDGE-ROPERS (BRS) FAMILY MEETINGS
One of the first steps in understanding a rare disease is to address the lack of information. Bringing affected families and researchers together in a setting like a 'Family Meeting' is invaluable. Individual and group research can be conducted, evaluations can be made, and critical information can be shared among doctors, researchers, advocates, and family members.
Leo’s Lighthouse, in cooperation with Dr. Wendy Chung, Simons VIP, and Columbia University, hosted the first BRS Family Meeting in New York City this July 2018. 24 BRS families were in attendance, from 6 countries, marking this the first official gathering of doctors, researchers, and BRS children ever and a significant moment in our fight against this disease.
The 2nd Annual BRS Family Meeting will take place this summer at the University of Michigan, on July 19-21, 2019. For more information please email: firstname.lastname@example.org