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 through the undiagnosed diseases network.
Mary Ann Campion, EdD, MS, CGC
Dr. Campion is a board certified genetic counselor and Co-Director of the MS in Human Genetics and Genetic Counseling at Stanford University. She also serves as Consultant on Genetic Counseling Professional Practice to Stanford Children's Health. Her major areas of interest include the translation of genomics into public health and faculty development in academic medicine.
Greg Enns, MB, ChB
Dr. Enns' research interests include studying novel means of diagnosing and treating inborn errors of metabolism, especially mitochondrial disorders. His current pursuits include the development of a panel of sensitive biomakers of redox imbalance, so that individuals who have primary or secondary mitochondrial dysfunction can be detected and monitored non-invasively, and performing clinical trials using novel therapies to treat biochemical genetic disorders.
Natalia Gomez-Ospina, MD, PhD
Dr. Gomez-Ospina is a physician scientist interested in developing genome editing and stem cell-based therapies for neurodegenerative disorders in children. Her present work is on developing curative therapies for lysosomal storage diseases. Her approach to improving the treatment of these disorders is to engineer the patient’s own hematopoietic system to produce and deliver the missing enzymes. Her work will not only fundamentally change the future therapies for lysosomal storage diseases, but will impact the treatment of many hematological and non-hematological diseases by providing a solution for the sustained delivery therapeutic proteins to the nervous and musculoskeletal systems.
Louanne Hudgins, MD, FACMG
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.
Chung Lee, MD
Melanie A. Manning, MD
Dr. Manning's research interests are focused toward the areas of Fetal Alcohol Syndrome, Down Syndrome, and chromosome abnormalities.
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.