School of Medicine
Showing 11-20 of 58 Results
-
Pasqualina Colella
Sr Res Scientist-Basic Life, Pediatrics - Genetics
BioDr. Pasqualina Colella is a scientist with extensive expertise in cell therapy and gene therapy approaches for the treatment of inherited diseases. She is currently Research Scientist at Stanford University, where she is developing innovative cell therapy approaches to address neuropathic lysosomal storage diseases (LSDs) using hematopoietic stem cell transplantation (HSCT) and genome editing.
Dr. Colella received her summa cum laude Bachelor of Science degree in Biology from the University of Naples Federico II (Italy) and her PhD in Human Genetics from The Open University (UK) at the Telethon Institute of Genetics and Medicine (TIGEM, Italy). During her PhD, she focused on investigating AAV gene therapy for inherited blindness and developed novel strategies to effectively express large (> 5 kb) genes in the retina for treating Stargardt disease and Usher Syndrome type I B, both of which cause untreatable forms of blindness.
After the PhD, Dr. Colella secured prestigious Postdoctoral fellowships from the Marie Skłodowska-Curie Actions (EU) and Genethon (France). As Postdoc she developed innovative in vivo AAV gene therapy approaches based on liver gene transfer or multi-tissue gene expression to target the multi-organ manifestations of Pompe disease, a LSD that presents with neuromuscular impairment.
Dr. Colella is committed to researching innovative ways to combat genetic diseases and making a positive impact on the lives of patients. -
Tina Cowan
Professor of Pathology (Clinical) and, by courtesy, of Pediatrics (Genetics)
Current Research and Scholarly Interestsscreening and diagnosis of patients with inborn errors of metabolism, including newborn screening, development of new testing methods and genotype/phenotype correlations.
-
John W. Day, MD, PhD
Professor of Neurology (Adult Neurology), of Pediatrics (Genetics) and, by courtesy, of Pathology
On Partial Leave from 03/15/2024 To 06/15/2024Current Research and Scholarly InterestsOur 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.
-
Gregory Enns
Professor of Pediatrics (Genetics)
Current Research and Scholarly Interestsmitochondrial genomics, lysosomal disorders, tandem-mass spectrometry newborn screening, and inborn errors of metabolism presentations and natural history
-
Uta Francke
Professor of Genetics and of Pediatrics, Emerita
Current Research and Scholarly InterestsFunctional consequences and pathogenetic mechanisms of mutations and microdeletions in human neurogenetic syndromes and mouse models. Integration of genomic information into medical care.