In affiliation with
Division of Genetic and Genomic Medicine
The Department of Pediatrics' Division of Genetic and Genomic Medicine is committed to the delivery of exemplary clinical care, to advancing research and to training future healthcare professionals.
Recent advances in medical genetics have made it possible for many people and their families to obtain more accurate information about their chances for developing a genetic disorder or hereditary cancer. Preconception and prenatal genetic consultation also can help couples learn about possible risks to their offspring.
Our mission is to integrate these new technologies with comprehensive and compassionate healthcare so that we can help people understand and adapt to the implications of genetic variation for their health.
Our medical geneticists and genetic counselors are experts in diagnosing hereditary conditions, supporting individuals as they make decisions about whether to have genetic testing, interpreting test results and providing education that can be helpful to them, their family members and their healthcare providers.
Learn more about our clinical services ›
- Maureen E. Bocian, MD, FAAP, FACMG
- Elizabeth C. Chao, MD, FACMG
- Pamela L. Flodman, MSc, MS, LCGC
- Kathryn Steinhaus French, MS, LCGC
- Natalie Gallant, MD, DABP, FACMG
- John Jay Gargus, MD, PhD, DABMG
- June-Anne Gold, MBBS, DCH, MRCPCH, RGN, RMN, FACMG
- Katherine Hall, MS, LGC
- Meredith Jones, MS, LCGC
- Virginia E. Kimonis, MBBS, DCH MRCP, FACMG
- Deepika Nathan, MS, LCGC
- Kathryn Singh, MPH, MS, LCGC
- Moyra Smith, MD, PhD, MFA, DABMG
- M. Anne Spence, PhD, DABMG
- Ann P. Walker, MA, LCGC, FACMG
- Valerie Watiker, MD, FACMG
- Michael Zaragoza, MD, PhD, DABMG
- Our Graduate Program in Genetic Counseling is committed to training professionals who are prepared to help people understand and adapt to the implications of genetic information on their lives and those of family members.
- The Medical Genetics Residency Program trains physicians who, through their expertise in genetic and genomic medicine, will become leaders in the application of genetic and genomic information to the healthcare of our patients.
Division faculty are actively involved in research projects to increase our understanding of the genetic basis of various conditions including the following:
- Rare Disease Clinical Research Network: Virginia Kimonis, MD, manages a component of this network focusing on Prader-Willi syndrome, Rett syndrome and Angelman syndrome. While each condition is rare individually, research findings can lead to important insight into treatment strategies for these conditions and may have major implications for other disorders.
- Center for Autism Research and Translation: Under the direction of John Jay Gargus, MD, PhD, the center focuses on developing state-of-the-art diagnostic and treatment approaches for individuals with autism. The eventual goal is to lessen the burden of autism through discovery, implementation, education and advocacy.
- Cardiogenomics Clinical and Research Program: In addition to his clinical expertise in working with individuals with cardiomyopathies and congenital heart disease (CHD), Michael Zaragoza, MD, PhD, also has an active research program focused on identifying the genetic variants that contribute to the risk for these conditions.
- Urea Cycle Disorders and Quality of Life: Natalie M. Gallant, MD, has been awarded the prestigious O’Malley Fellowship by the Urea Cycle Disorders Consortium of the National Institutes of Health's Rare Disease Clinical Research Network. With this support, she is investigating the impact urea cycle disorders (UCD) and their treatments have on the quality of life of children and adults.
Learn how you can support research into rare and genetic diseases ›
For more information, contact the Division of Genetic and Genomic Medicine at 714-456-5791.