UCLA ASXL-Related Disorders and Chromatinopathies Clinic

The UCLA ASXL-Related Disorders and Chromatinopathies Clinic, founded in 2018, offers evaluation, treatment, and management for individuals with genetic syndromes caused by variants in genes related to chromatin function (chromatinopathies). The ASXL-Related Disorders are a subset of the chromatinopathies caused by genetic changes in ASXL1, ASXL2, or ASXL3. Changes in these genes are associated with Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome. The clinic also follows patients with other chromatin-related disorders including but not limited to Kabuki Syndrome, Rubinstein-Taybi Syndrome, Wolf-Hirschhorn Syndrome, Coffin-Siris Syndrome, and Nicolaides-Baraitser Syndrome (see Chromatinopathies review article in the Resources section for additional conditions).

The clinic is held on the first Friday of every month at the UCLA 200 Medical Plaza. Appointments can also be offered virtually for those who have a difficult time traveling to the clinic. We provide individualized care for each patient and help coordinate the complex care needs of our patients with their existing providers.

We also offer patients and their families the chance to be involved with research that aims to increase our understanding of the chromatinopathies, and how to improve treatment and quality of life for patients and their families. We run an international, patient-driven registry. Data is gathered directly from the patient’s families and the patient’s medical records. We offer updates from the registry both through our newsletter and peer-reviewed publications. We currently have nearly 100 families in the ASXL-related disorders portion of the registry and are quickly expanding. While the registry is housed at UCLA, we have affiliated sites at Boston Children’s Hospital, Cincinnati Children’s Hospital, and Duke Medical Center.

We also have a growing ASXL biobank composed of trio blood and fibroblast (skin) samples used for multiple collaborative studies around the world. The samples are an excellent resource for laboratory scientists looking to study the ASXL-related disorders and we hope that this tool will continue to attract researchers who can better understand, and provide treatment options, for patients with ASXL-related disorders.

Our Team

Bianca Russell, MD, FACMG – Pediatric Genetics

Jessica Kianmahd, MS, CGC – Genetic Counselor

Hillary Zebberman, MSW, LCSW – Social Worker

Chanel Suares, RD, CSP – Dietician

Erica Chan, MS, PNP – Nurse Practitioner

Elizabeth Gonzalez – Program Administrator

Other specialties we collaborate with: Gastroenterology, Psychiatry, Neurology, Pulmonology, Hematology-Oncology, and Speech/Occupational/Physical Therapists