Meet Our Clinical Geneticists
Our clinical geneticists provide expert care in a variety of clinical subspecialties, in addition to general genetics. Along with providing exceptional, patient-centered clinical care, our driven team of geneticists works on cutting-edge research to further improve care for individuals with genetic disease.
Jon Bernstein, MD, PhD is a physician scientist, board certified in both pediatrics and medical genetics. He received his medical and graduate degrees from the Stanford School of Medicine and completed his fellowship and residency at Lucile Packard Children’s Hospital. His clinical focus includes the genetics of autism and developmental disorders, as well as craniofacial syndromes. He is a member of Stanford’s Bio-X institute, which facilitates interdisciplinary research connected to biology and medicine. He is the chief of the Division of Medical Genetics, the medical director of the Cleft and Craniofacial Center and the co-medical director of Stanford’s Undiagnosed Diseases Network site.
Dr. Bernstein is very involved in research. His current work includes development of induced pluripotent stem cell (iPSC) models of genetic disorders associated with developmental disability, and the application of new technologies (whole genome sequencing, multi-omics profiling) for the diagnosis of developmental disorders.
Clinics: Cleft and Craniofacial center, General Genetics clinic
Heather Byers, MD FACMG is a physician board-certified in medical and clinical genetics. She started her residency in obstetrics & gynecology at the University of Texas at Austin and completed her residency and fellowship in medical genetics at the University of Washington.
As an active clinician, Dr. Byers’ research interests are primarily collaborative. Her research links with her clinical interests, such as congenital malformations & dysmorphology, perinatal genetics, infertility, neurologic disease and differences of sexual development (DSDs). Dr. Byers is currently investigating the genetics of pregnancy loss utilizing chromosomal microarray and whole-exome sequencing. The aim of this project is to better understand the critical genes in embryonic development and expand the medical knowledge of unexplained pregnancy loss. Other areas of ongoing research include improved recognition and description of prenatal phenotypes, molecular testing methodologies, DSDs, and fetal mosaicism.
Clinics: Disorders of Sexual Development clinic, General Genetics clinic, Perinatal Genetics clinic
Greg Enns, MD is a physician, board certified in clinical biochemical genetics and clinical genetics. He completed his residency at Children’s Hospital Los Angeles and his fellowship at UCSF Medical Center. He is a member of Stanford’s Bio-X institute, which facilitates interdisciplinary research connected to biology and medicine.
Research interests include novel means of diagnosing and treating mitochondrial disorders and lysosomal disorders. Current pursuits include the analysis of glutathione and redox status in individuals who have mitochondrial dysfunction and the development of a precision medicine approach to diagnosing and managing inborn errors of metabolism. Dr. Enns is involved in many clinical trials in these areas and more.
Clinics: Inherited Metabolic Disease clinic, General Genetics clinic
Louanne Hudgins, MD, is a physician board certified in medical genetics. She completed her residency in Pediatrics and fellowship in Human Genetics at the University of Connecticut. Her clinical focus is in medical and perinatal genetics. She serves as the Director of Perinatal Genetics at Lucile Packard Children’s Hospital Stanford and as co-Medical Director of the Clinical Genomics Program at Stanford.
Dr. Hudgins evaluates individuals of all ages with various disorders that are suspected to have a genetic component. Her clinical interests include the genetics of hearing loss, genetic disorders which have a dermatologic component, and the use of sequencing in identification of rare genetic disorders.
Research interests include prenatal genetic screening and diagnosis.
Clinics: Genetic Disorders of the Skin clinic, General Genetics clinic, Perinatal Genetics clinic
Chung Lee, MD
Natalia Gomez-Ospina, MD, PhD is a physician board certified in clinical genetics. She completed her combined MD, PhD at Stanford Medical School. After completion of her dual degrees, she did her preliminary year in internal medicine at Santa Barbara Cottage hospital before starting residency in Dermatology at Johns Hopkins Hospital. She completed residency in Medical Genetics at Stanford Hospital and clinics.
For her clinical practice she sees patients with suspected genetic disorders, and is also in charge of the enzyme replacement service for lysosomal storage disorders at Lucile Packard Children’s hospital. She has research experience in the development of genome editing-based strategies in stem cells as therapies for metabolic diseases. Her current research focuses on developing better therapies for lysosomal storage diseases, ways to improve quality of life for patients with hyperammonemia, and gene discovery.
Clinics: General Genetics clinic
Melanie Manning, MD, is a physician board certified in clinical genetics, clinical cytogenetics, and pediatrics. She completed her Medical Genetics residency and fellowship at Stanford University School of Medicine. Her clinical focus is in chromosomal disorders, with a particular passion for the multidisciplinary and supportive care of individuals with Down syndrome. She has been involved with the Down syndrome clinic since 2006.
Dr. Manning’s research focuses on fetal alcohol syndrome, developmental disabilities, and cytogenetic abnormalities.
Other clinics: Down Syndrome clinic, General Genetics clinic
Dena Matalon, MD is a physician board certified in Clinical Genetics. She completed her residency and fellowship at the Children’s Hospital of Philadelphia and joined the Stanford Medical Genetics department in 2018. Her clinical focus is in clinical genetics, developmental disorders, craniofacial disorders, and neurometabolic disease. She is particularly interested in clinical therapeutics, such as enzyme replacement therapy, for genetic and metabolic disease. Her goal, in collaboration with colleagues at Stanford, is to lead more clinical trials for emerging therapies in genetic disorders.
Clinics: Cleft and Craniofacial center, General Genetics clinic
David A. Stevenson, MD is a physician board certified in both pediatrics and medical genetics. He completed his pediatric residency at the University of New Mexico and completed his medical genetics residency at the University of Utah. His clinical practice is in treating and diagnosing individuals with genetic conditions.
Dr. Stevenson sees all types of individuals with various genetic disorders. However, he has particular interests in disorders of the Ras/MAPK pathway which includes neurofibromatosis type 1, Noonan syndrome, CFC syndrome, and Costello syndrome. He also has expertise in evaluating individuals with vascular anomalies including hereditary hemorrhagic telangiectasia. Dr. Stevenson is on the scientific advisory board for Prader-Willi Syndrome Association (PWSA) and has a focus on treating individuals with Prader-Willi syndrome.
Clinics: General Genetics clinic, RASopathy/NF clinic, Vascular Anomaly clinic