School of Medicine
Showing 1-10 of 11 Results
Assistant Professor of Pediatrics (Genetics) at the Lucile Salter Packard Children's Hospital
Current Research and Scholarly Interests I am interested in the genetics of autism spectrum 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 autism and developmental disability. I am also engaged in the application of new technologies for the diagnosis of genetic etiologies for developmental disorders.
John W. Day, MD, PhD
Professor of Neurology, of Pediatrics 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.
Associate Professor of Pediatrics (Genetics) at the Lucile 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.
Professor of Pediatrics (Genetics) at the Lucile Salter Packard Children's Hospital and, by courtesy, of Obstetrics and Gynecology at SUMC
Current Research and Scholarly Interests I am interested in prenatal genetic screening and diagnosis.
Instructor, Pediatrics - Medical Genetics
Current Research and Scholarly Interests Organ transplantation in metabolic disorders (e.g. methylmalonic acidemia, urea cycle disorders). Mitochondrial diseases. Organic acidemias. Mitochondrial dysfunction, oxidative stress, antioxidants & nutrition in metabolic disorders.
Professor of Pathology and, by courtesy, of Pediatrics (Genetics) at the Stanford University Medical Center
Current Research and Scholarly Interests Iris Schrijver is a diplomate of the ABMG, with specialty certification in Clinical Molecular Genetics. In addition, she is a diplomate of the ABP in Clinical Pathology. She is one of the directors of the diagnostic Molecular Pathology laboratory and Stanford Point-of-Care testing. Research interests include the characterization of the molecular basis of inherited disorders, genotype-phenotype correlations, and development of novel molecular diagnostic tools.