Our mission is to support research and education that lead to improved quality of life for individuals with ASXL syndromes, which include Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome.
We help families understand best practices for care management through resources and educational programs. We know the family voice is critical in defining the research priorities that will have the biggest impact on the ASXL community.
We help researchers and medical professionals connect with each other to exchange ideas and information. We help them get the research samples and data they need to study ASXL syndromes and understand the impact of their work on families.