UCLA Department of Human Genetics

The Medical Genetics Clinic at Mattel Children's Hospital UCLA offers medical evaluations for children with birth defects and developmental delays. Our clinic has a particular focus in conditions that cause abnormal growth as well as autism and mental retardation/developmental
delay. We offer genetic testing as well as counseling for family recurrence risks. Our group provides comprehensive referral services to appropriate specialists in the UCLA network. These are individuals with expertise in the care of individuals with genetic disorders.

We also have a number of research studies looking at the genetic causes for the following genetic conditions:
* Sotos Syndrome
* Weaver Syndrome
* Beckwith-Wiedemann Syndrome
* Autism-Macrocephaly
* Proteus Syndrome
* Hemihyperplasia/Hemihypertrophy
* Overgrowth-Autism
* Perlman syndrome
* Simpson-Golabi-Behmel
* Marshall-Smith syndrome

Many of these conditions share mutations in signaling pathways that regulate tissue growth. As a consequence they have significant phenotypic overlap. The genes for these conditions have been identified and clinical testing for diagnosis is available through a new test called Whole Exome Sequencing. This test allows us to look for changes in each of the genes associated with overgrowth or undergrowth all in one blood sample. This avoids sequential and serial testing that would otherwise require multiple blood draws and additional costs. The test is offered through our Overgrowth Syndromes Clinic in association with the UCLA Clinical Genomics Center. If you or a member of your family have one of these disorders we are studying and you have questions or would like to participate in our studies please contact us at our laboratory facilities at 310-794-2405.

We hope that this website provides useful information to parents and healthcare providers regarding the conditions that we follow in our clinic. Should you wish to refer a patient to our clinic or if you would like to schedule an appointment, please contact our office at 310-206-6581 or fax to 310-206-8616.

Our clinic is located on the second floor of the 200 Medical Plaza Building, Suite 265.

If you would like to support our research efforts we would kindly appreciate if you could designate your check to "Regents of the University of California" and write "ATTN: Martinez-Agosto Lab" in the space on the lower left corner of the check when making your donation. In addition to your donations, please feel free to enclose a matching gift form.

Please mail to:

Julian A. Martinez-Agosto MD, PhD, FACMG, FAAP
Assistant Professor
Department of Human Genetics
Division of Medical Genetics, Department of Pediatrics
David Geffen School of Medicine at UCLA
University of California, Los Angeles
695 Charles E. Young Drive South, Gonda Research Center Room 4554B
Los Angeles, CA 90095

We thank you for your kindness and generosity in assisting our research efforts.