School of Medicine
Showing 1-10 of 16 Results
Associate Professor of Developmental Biology, of Computer Science and of Pediatrics (Genetics)
Current Research and Scholarly Interests Dr. Bejerano, co-discoverer of ultraconserved elements, studies the Human Genome. His research focuses on genome sequence and function in both humans and related primate, mammalian and vertebrate species. He is deeply interested in mapping both coding and non-coding genome sequence variation to phenotype differences, and in extracting specific genetic insights from high throughput sequencing measurements, in the contexts of development and developmental abnormalities.
Associate Professor of Pediatrics (Genetics) at the Lucile Salter Packard Children's Hospital
Current Research and Scholarly Interests My interests include the genetics of autism and other developmental disorders. In collaboration with colleagues at Stanford, I am working to develop induced pluripotent stem cell (iPSC) models of genetic disorders associated with developmental disability. I am also engaged in the application of new technologies (Whole genome sequencing, Multi-omics profiling) for the diagnosis of developmental disorders.
John W. Day, MD, PhD
Professor of Neurology, of Pediatrics (Genetics) and, by courtesy, of Pathology at the Stanford University Medical Center
Current Research and Scholarly Interests Our Neuromuscular Division coordinates a comprehensive effort to conquer peripheral nerve and muscle disorders, including the muscular dystrophies, motor neuron disorders, neuromuscular junction abnormalities, and peripheral neuropathies. With patients and families foremost in mind, we have had success defining and combating these diseases, with research focused on identifying genetic causes, developing novel treatment, and maximizing patient function by optimizing current management.
Professor of Pediatrics (Genetics) at the Lucile Salter Packard Children's Hospital
Current Research and Scholarly Interests mitochondrial genomics, lysosomal disorders, tandem-mass spectrometry newborn screening, and inborn errors of metabolism presentations and natural history
Professor of Genetics and of Pediatrics, Emerita
Current Research and Scholarly Interests Functional consequences and pathogenetic mechanisms of mutations and microdeletions in human neurogenetic syndromes and mouse models. Integration of genomic information into medical care.
Clinical Instructor, Pediatrics - Medical Genetics
Current Research and Scholarly Interests Dr. Gomez-Ospina is a physician scientist and medical geneticist with a strong interest in the diagnosis and management of genetic diseases. Her primary research focus is to develop a novel, genome-editing based approach for treatment of lysosomal storage disorders.
She also works in collaboration with other researchers at Stanford to develop point-of-care testing for serum ammonia levels. Such device will greatly improve the quality of life of children and families with metabolic disorders with hyperammonemia. She has also participated in multi-institutional collaborations to discover the genetic causes of neonatal and infantile cholestatic liver disease.
Professor of Pediatrics (Genetics) at the Lucile Salter Packard Children's Hospital and, by courtesy, of Obstetrics and Gynecology at the Stanford University Medical Center
Current Research and Scholarly Interests I am interested in prenatal genetic screening and diagnosis.