The ASXL Biobank, named REACH (Rare Epigenetic and Chromatin Disorders) is created as a joint collaboration between the Arboleda Lab, Dr. Bianca Russell, and the Weksberg Lab at UCLA.
This Biobank is 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 biobank collects and stores samples from individuals with ASXL disorders and made available to researchers and healthcare professionals for a wide range of studies, including those focused on diagnosis, treatment, and prevention of these genetic disorders.
How it works
To start donating samples, please contact Dr. Bianca Russell at
ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu
Individuals with a clinical or molecular diagnosis of Bohring-Opitz Syndrome or who have mutations in ASXL genes are invited to contribute to this biobank. Parents complete simple questionnaires online (about 15-30 minutes) about their child’s medical history and may submit photographs as well as test results and notes from their physicians.
The information is kept on a secure server. Identified information can only be accessed by the researchers in charge of the study. De-identified content may be available to other researchers, members of the registry advisory board, and the study participants.
Types of Samples
Blood samples (typically between 8 and 15ml / 2tsp and 1tbsp). We will not ask for more blood than is safe to draw for your body.
A skin biopsy is a removal of a small piece of skin, about half as big around as the tip of a new crayon. We will use numbing medicine and steristrips. Stitches won’t be required.
Bohring-Opitz Syndrome 