Dr. Karen Ho visits UCLA’s Arboleda Lab and REACH Biobank—what it means for our ASXL community
Dr. Karen Ho, center, meets with ASXL researchers at UCLA including Dr. Rujuta Wilson (left) and Dr. Valerie Arboleda (right).
Dr. Karen Ho, Chief Scientific Officer of the ASXL Rare Research Endowment (ARRE) Foundation visited Dr. Valerie Arboleda’s lab and the REACH Biobank at the University of California, Los Angeles (UCLA) last week. This visit marks another important step in deepening our scientific partnerships and advancing research for individuals with ASXL-related disorders, including Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2), and Bainbridge-Ropers Syndrome (ASXL3).
About the Arboleda Lab and REACH Biobank
Dr. Valerie Arboleda is a physician-scientist whose lab explores how changes (or mutations) in genes like ASXL1, ASXL2, and ASXL3 contribute to disease. Her team uses advanced tools like stem cells and genome editing to study how these changes affect neurodevelopment. The lab’s work helps uncover the underlying biology of ASXL-related disorders—critical information for identifying possible treatment targets.
The REACH Biobank, which is part of the ASXL-Related Disorders Natural History Study, is a vital resource connected to Dr. Arboleda’s lab. It stores biospecimens—like blood and skin samples—from individuals with rare neurodevelopmental disorders, including ASXL-related disorders. These samples are a powerful tool for researchers, allowing them to study how ASXL variants impact the body at the cellular and molecular level.
If you or your loved one has contributed samples to the biobank—thank you. These biospecimens are not just stored away. They’re being used right now to help researchers:
Create cell models that replicate what’s happening in ASXL-related disorders
Understand how ASXL gene changes impact brain development and other systems
Test potential drugs in a lab setting before they move to clinical trials
Each sample helps researchers ask and answer better questions—and brings us closer to potential treatments.
Why this work is so important
Drug discovery is a long and complex process. It starts with understanding the biology of a disorder and identifying pathways that can be targeted by therapies. Without biospecimens and the kind of research being done at places like UCLA, none of that is possible.
We are grateful to Dr. Arboleda and her team, and we’re thrilled to have Karen at the helm of this important work.
To learn more about the REACH Biobank, visit: https://www.reach-biobank.org
To learn more about the Arboleda Lab, visit: https://www.arboledalab.org
