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

Contact us:

UCLA Pediatric Genetics
10833 Le Conte Ave MDCC 12-334
Los Angeles, CA 90095

Genetics Administartion and Counselors: (310) 206-6583
Fax: (310) 206-8616
Email: Jessica Kianmahd (Genetic Counselor)

Research:

To register for the ASXL and Chromatin registry and biobank, please email: [email protected]

See Clinical Trials website for more information: https://clinicaltrials.gov/ct2/show/NCT03303716

Family Groups:

ASXL Rare Research Endowment
Bohring-Opitz Syndrome Foundation
Leo’s Lighthouse (for Bainbridge-Ropers Syndrome)
Simons Searchlight (for Bainbridge-Ropers Syndrome)

Resources:

Bohring-Opitz Syndrome GeneReviews
NIH Genetics Home Reference (Bohring-Opitz Syndrome)
NIH Genetics Home Reference (ASXL1)
Publication on Clinical Management of Bohring-Opitz Syndrome
Publication on Shashi-Pena Syndrome (ASXL2)
Guide for Bainbridge-Ropers Syndrome (ASXL3)
NIH Genetics Home Reference (ASXL3)
Chromatinopathies Publication Review