The ASXL Rare Research Endowment (ARRE) Foundation is a family-led organization supporting research for a rare genetic variance affecting the ASXL genes. The ARRE Foundation raises fund for research to increase the understanding of the ASXL genes and improve the treatment and management of individuals with congenital ASXL syndromes.
These ultra rare syndromes include ASXL1 (Bohring-Opitz Syndrome), ASXL2 (Shashi-Pena Syndrome), and ASXL3 (Bainbridge-Ropers Syndrome). Many children with an ASXL syndrome have severe physical, cognitive, speech, and visual impairments as well as severe behavioral, social, and mental health issues.
ASXL-related syndromes are underdiagnosed due to challenges recognizing the diagnosis, shortage of genetics services, and the cost of genetic testing. Currently, there are few evidence-based publications for reference and signiﬁcant unknowns about the mechanisms behind ASXL syndromes. The ARRE Foundation's goal is to improve our understanding of how ASXL genes work and how to best care for children living with an ASXL syndrome.