IT RESULTS FROM A RANDOM GENETIC CHANGE IN ASXL GENES THAT OCCURS aROUND CONCEPTION AND CAN AFFECT ANY PERSON.
Many children have global developmental delays (e.g. cannot sit, walk, talk, feed themselves) and complex medical issues including severe neurological and respiratory issues. Most individuals are completely dependent on caretakers for every aspect of their care.
Bohring-Opitz Syndrome (BOS/ASXL1), Bainbridge-Ropers syndrome (BRS/ASXL3), and Shashi-Pena Syndrome (SPS/ASXL2) are under diagnosed due to challenges recognizing the diagnosis, shortage of genetics services, and the cost of genetic testing.
These children have complex clinical issues and often see specialists who do not have the knowledge or experience to properly manage their care due to the rarity and unknowns of their syndrome. There are few evidence-based publications for reference and signiﬁcant unknowns about the mechanisms behind ASXL syndromes.
AЯRE will support basic scientific and clinical research that can further characterize the molecular causes and pathogenicity of the ASXL gene family, improve medical care plans, and meet the needs for families who face extraordinary challenges and uncertainty.
Through research, AЯRE aims to improve the quality of life for these individuals and their families:
AЯRE will bring together the major medical and scientific leaders who are studying the ASXL genes and provide opportunities for physicians and researchers to present and share their work through collaborative methods. In addition, AЯRE will support the collection of medical data/samples, communicate new developments, discuss care management strategies, and foster a supportive community.