This special month there is a new update to the ASXL registry and we would like to share it on this unique day of Rare Disease Day the 29th! This registry was created to gather information about Bohring-Opitz syndrome and ASXL related disorders to provide a better understanding of these rare conditions for patients, caregivers and medical professionals.
This newsletter reported the number of registrants has been increased to 137 participants. At the last ASXL conference, a large number of families participated in the ASXL Registry, the Biobank and gave consent for the EEG study. So save the date for this year’s conference in Baltimore, Maryland on July 18-21! You can find all the information about the event on the ARRE Foundation website.
But there is more exciting news! The new Registry website has been launched for the ASXL Registry and Biobank: REACH BIOBANK! REACH (Rare Epigenetic And Chromatin Disorders) is a biobank created as a joint collaboration between the Arboleda Lab, Dr. Bianca Russell, and the Weksberg Lab at UCLA. They are committed to supporting innovative and cutting-edge research that leads to breakthroughs in the diagnosis, prevention, and treatment of genetic disorders caused by ASXL1, ASXL2, ASXL3, and KAT6A mutations among other rare genetic disorders. This website will serve as the location of our data dictionary and datarequest forms.
Bohring-Opitz Syndrome 