Research

Suha Bachir, MD, MS

Dr. Bachir's research focuses on improving the care of patients with connective tissue disorders, particularly Marfan and Myhre sydromes. She is currently leading the characterizaiton of a cohort of FBN1 mutation negative patients and an itnernational natural history study of Myhre syndrome. Dr. Bachir is also investigating the utility of large language models for use in the early recognition of Marfan syndrome as well as other rare genetic conditions. She participates as an investigator at the Stanford site of the NIH Undiagnosed Diseases Network. In alignment with her research Dr. Bachir co-leads the Myhre syndrome clinic at Stanford Medicine Children's health. 

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. 

Gregory 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.

Melanie A. Manning, MD

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

Dena Matalon, MD

Dr. Matalon's research interests stem from wanting to find genetic answers for patients and their families and provide support for the rare disease community. She is interested in better characterizing and managing genetic syndromes, especially those related to dysmorphology. She is alos interested in prenatal genetic diagnosis and is leading a study on genetic diagnosis in fetal brain anomolies. She is part of the Genomics Research to Elucidate the Genetics of Rare disease (GREGoR) consortium which uses novel research techniques to identify genetic causes of rare diseases and is the co-Principal investigator on a grant through the Stanford Maternal & Child Health Research Institute (MCHRI) to utlilze long-read genome sequencing to increase diagnosis and discovery in pediatric genetic disease. Finally, she is also focused on imporoving equity in genetic testing and diagnosis. 

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.

Christina "Christy" Tise, MD, PhD

ChristyTise, MD, PhD is an Assistant Professor in the DIvision of Medical Genetics at Stanford. She is a physician scientist and board certified in Medical Genetics and Genomics, as well as Clinical Biochemical Genetics. Dr. Tise's clinical areas of expertise are in biochemical genetics, perinatal genetics, and reproductive genetics. She works closely with the Perinatal Diagnostic Center (PDC) and the Reproductive Endocrinology and Infertility (REI) service on several novel and innovative initiatives, including establishing a Reproductive Genetics Clinic at Stanford to provide genetic evaluation to a wide variety of patients and families experiencing reproductive challenges. Dr. Tise's research is focused on the genetic etiologies of recurrent pregency loss, the impact of inherited metabolic conditions on human reproduction, and the clinical utility of innovative technologies for diagnosis and treatment.