Pediatrics
Showing 11-20 of 60 Results
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Pasqualina Colella
Sr Res Scientist-Basic Life, Pediatrics - Genetics
BioDr. Pasqualina Colella is a scientist with extensive expertise in preclinical gene and cell therapy for rare inherited diseases.
She is currently a Senior 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. Her particular focus is on untreatable diseases caused by progranulin deficiency.
During her PhD research at TIGEM (IT), she developed therapeutic approaches for inherited blindness caused by the degeneration of retinal photoreceptors and dual AAV-mediated large gene delivery to the retina for USHIB and STGD.
During her postdoctoral studies at Genethon (FR), Dr. Colella focused on gene therapy for diseases caused by lysosomal enzyme deficiencies, particularly Pompe disease. She addressed immune and efficacy limitations of preclinical in vivo AAV gene therapy through transgene engineering, including secretable GAA and tandem promoters, while also investigating lysosomal enzyme trafficking and immune responses to gene therapy.
Dr. Colella has a proven track record, with 30 published manuscripts (16 as first author, 6 as corresponding author) and 5 patents.
She is dedicated to driving innovations in gene and cell therapy for untreatable diseases and to mentoring the next generation of passionate and rigorous gene and cell therapists. -
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.
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John W. Day, MD, PhD
Professor of Neurology (Adult Neurology), of Pediatrics (Genetics) and, by courtesy, of Pathology
Current 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.
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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
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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.