Putting money where it matters most
Donations made to Leo’s Lighthouse directly fund pediatric research, therapies, and family support programs. Leo’s Lighthouse is working with top universities, scientific labs, and other foundations to finance this invaluable research. Every dollar you donate goes towards initiatives we believe will have the most impact, all of which are focused on improving the short- and long-term quality of life for these children, and eventually, lead to a cure.
VANDERBILT university
We’re currently funding the development of ASXL3 Anti-bodies at Vanderbilt University. These anti-bodies are necessary for rare disease investigators to get a head start on their BRS/ASXL3 research, and are an integral part of an ASXL3 ‘Scientific Tool Kit’ that we expect to complete in 2020.
Columbia university
Dr. Wendy Chung is one of the world’s leading human geneticists and the director of the clinical genetics program at Columbia University, a co-director of the molecular genetics diagnostics lab, and head of a research laboratory in the division of molecular genetics investigating the genetic basis for a variety of Mendelian and complex traits.
Dr. Chung created the TREATMENT program to study rare disease at Columbia University. We began supporting her efforts in 2019.
simons foundation (SEARCHLIGHT)
The Simons Searchlight (formerly Simons VIP) was originally started to identify and study large numbers of individuals sharing recurrent genetic variants known to increase the risk of developing autism spectrum and other neurodevelopmental disorders. Longer-term goals are to use these data to develop targeted interventions and focused clinical care.
Leo’s Lighthouse has partnered with Simons Searchlight to promote data collection and assist research on ASXL3 and Bainbridge-Ropers Syndrome. Our goal is to get 100 BRS Families complete natural history information into the Simons Searchlight registry. Look for this ground breaking data to be published in 2020, in the meantime you can find more on Simons Searchlight results at gene.sfari.org.
More than 25% of BRS children and their families have joined the Simons Searchlight study. Please do so if you haven’t already! www.sfari.org Thank you!
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 Searchlight, 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 3rd Annual BRS Family Meeting took place this summer at the University of California Los Angeles, in conjunction with the ASXL Conference hosted by the ARRE Foundation. For information on future family meetings, please email: scott@leoslighthouse.org