Research

Jonathan Bernstein, MD, PhD

Dr. Bernstein's interests include the genetics of autism and other developmental disorders. In collaboration with colleagues at Stanford, he is working to develop induced pluripotent stem cell (iPSC) models of genetic disorders associated with developmental disability. He is also engaged in the application of new technologies (Whole genome sequencing, Multi-omics profiling) for the diagnosis of developmental disorders.

Greg Enns, MD

Dr. Enns' research interests include novel means of diagnosing and treating mitochondrial disorders, with an emphasis on antioxidant therapy, lysosomal disorders, and newborn screening by tandem mass spectrometry. His current pursuits include the analysis of glutathione and antioxidant status in patients who have mitochondrial disorders and the development of new techniques for diagnosing these conditions.

Louanne Hudgins, MD

Dr. Hudgins has speacial interests in the following areas: limb anomalies, hearing loss, genetic disorders involving the skin, and prenatal diagnosis and screening. Her collaborations with basic science researchers include: 1) identifying fetal DNA in maternal serum for diagnosis of Down syndrome; and 2) studying abnormalities in the NFAT pathway as a possible etiology for Down syndrome.

Melanie A. Manning, MD

Dr. Manning's research interests are focused toward the areas of Fetal Alcohol Syndrome, Down Syndrome, and chromosome abnormalities.

Kelly Ormond, MS

Ms. Ormond is a board certified genetic counselor, and serves as the Director of the MS in Human Genetics and Genetic Counseling. Her major areas of interest include ethical and social issues in medical genetics and genetics research, specifically aspects of informed consent, how families and patients make decisions, and disability studies.

David A. Stevenson, MD

Dr. Stevenson's research focuses on disorders of the RAS/MAPK pathway (e.g. NF1, Noonan, CFC, and Costello syndrome). He is working on understanding the impact of RAS signaling on the musculoskeletal system. Through multi-disciplinary collaborations, he is utilizing genomic approaches to identify somatic events and modifiers in the RASopathies. He is also involved in identifying outcome measures for use in clinical trials for the associated orthopedic manifestations. Other areas of research involve vascular anomalies, Prader-Willi syndrome, and hypophosphatasia.