School of Medicine
Showing 1-50 of 61 Results
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Gill Bejerano
Professor of Developmental Biology, of Computer Science, of Pediatrics (Genetics) and of Biomedical Data Science
Current Research and Scholarly Interests1. Automating monogenic patient diagnosis.
2. The genomic signatures of independent divergent and convergent trait evolution in mammals.
3. The logic of human gene regulation.
4. The reasons for sequence ultraconservation.
5. Cryptogenomics to bridge medical silos.
6. Cryptogenetics to debate social injustice.
7. Managing patient risk using machine learning.
8. Understanding the flow of money in the US healthcare system. -
Jon Bernstein
Professor of Pediatrics (Genetics) and, by courtesy, of Genetics
Current Research and Scholarly InterestsMy research is focused on the diagnosis, discovery and delineation of rare genetic conditions with a focus on neurodevelopmental disorders. This work includes the application of novel computational methods and multi-omics profiling (whole genome sequencing, long-read DNA sequencing, RNA sequencing, methylomics, metabolomics). I additionally participate in an interdisciplinary project to develop induced pluripotent stem cell and assembloid models of genetic neurodevelopmental disorders.
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Pasqualina Colella
Senior Research Scientist, Pediatrics - Genetics
BioDr. Pasqualina Colella is a distinguished scientist with expertise in gene and cell therapy for inherited diseases. She is currently a Senior Research Scientist at Stanford University, where she pioneers innovative cell therapy approaches for neuropathic lysosomal storage diseases (LSDs). Her research investigates hematopoietic stem cell transplantation (HSCT) and genome editing to target untreatable diseases caused by progranulin deficiency.
Dr. Colella earned her PhD at TIGEM (Italy), where she developed therapeutic strategies for inherited blindness due to retinal photoreceptor degeneration. Her work included pioneering dual AAV-mediated large gene delivery to the retina for Usher syndrome type 1B (USH1B) and Stargardt disease (STGD).
During her postdoctoral studies at Genethon (France), Dr. Colella focused on gene therapy for Pompe disease, an LSD with neuromuscular manifestations. She addressed immune responses and efficacy limitations of preclinical in vivo AAV gene therapy through transgene engineering, including the development of highly secretable GAA and tandem promoters.
Dr. Colella’s research has been foundational for ongoing clinical trials for USH1B and Pompe disease.
With 30 published manuscripts—16 as the first author and 6 as a co-corresponding author—and 5 patents, Dr. Colella has a robust track record in the field. She is dedicated to driving innovations in gene and cell therapy for untreatable diseases and mentoring the next generation of scientists.
Dr. Colella has been awarded the prestigious Marie Skłodowska-Curie Individual Fellowship and was selected as a finalist for the ERC Starting Grant 2019. -
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 and Neurological Sciences (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)
On Partial Leave from 10/15/2024 To 12/13/2024Current 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.
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Natalia Gomez-Ospina
Assistant Professor of Pediatrics (Genetics)
Current Research and Scholarly InterestsDr. Gomez-Ospina is a physician scientist and medical geneticist with a strong interest in the diagnosis and management of genetic diseases.
1) Lysosomal storage diseases:
Her research program is on developing better therapies for a large class of neurodegenerative diseases in children known as lysosomal storage disorders. Her current focus is on developing genome editing of hematopoietic stem cells as a therapeutic approach for these diseases beginning with Mucopolysaccharidosis type 1 and Gaucher disease. She established a genetic approach where therapeutic proteins can be targeted to a single well-characterized place in the genome known as a safe harbor. This approach constitutes a flexible, “one size fits all” approach that is independent of specific genes and mutations. This strategy, in which the hematopoietic system is commandeered to express and deliver therapeutic proteins to the brain can potentially change the current approaches to treating childhood neurodegenerative diseases and pave the way for alternative therapies for adult neurodegenerative disorders such as Alzheimer’s and Parkinson’s disease
2) Point of care ammonia testing
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.
3) Gene discovery
Dr Gomez-Ospina lead a multi-institutional collaboration resulting in the discovery of a novel genetic cause of neonatal and infantile cholestatic liver disease. She collaborated in the description of two novel neurologic syndromes caused by mutations in DYRK1 and CHD4.
For more information go to our website:
https://www.gomezospina.com/ -
Tia Moscarello, MS, LCGC
Staff, Medicine - Med/Cardiovascular Medicine
Clinical Assistant Professor (Affiliated), Pediatrics - GeneticsBioLicensed and certified genetic counselor with a specialization in inherited cardiovascular disease. Primary genetic counselor for the first on-call cardiovascular genetic counseling service. Clinical instructor for the Stanford University MS in Human Genetics and Genetic Counseling Program.
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Mitchel Pariani
Clinical Assistant Professor (Affiliated), Pediatrics - Genetics
BioMitchel earned his Master’s degree in genetic counseling from California State University, Northridge in 2007. At Cedars-Sinai Medical Center Mitchel served as genetic counselor and coordinator for David Rimoin, MD, PhD’s connective tissue disorders clinic and later established the cardiovascular genetics program at CSMC. At CSMC he also created the CSMC Summer Genetic Counseling Rotation Program that hosted students from genetic counseling programs around the United States. In 2014 he joined the new Stanford Center for Inherited Cardiovascular Disease to start a familial hypercholesterolemia clinic and provide genetic counseling for patients with cardiomyopathies. As the center expanded, Mitchel joined the Stanford Marfan Center as a genetic counselor and serves as program coordinator. He is the primary instructor for Stanford’s Cardiovascular Genetics course and serves as a clinical supervisor and mentor for students and volunteers.
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Jennifer Chie Schymick
Clinical Assistant Professor (Affiliated), Pediatrics - Genetics
BioPROFESSIONAL EDUCATION
∗ Medical Genetics Fellowship Stanford University (2018-2020)
∗ General Internal Medicine Residency University of Toronto (2013-2018)
∗ M.D. University of California Irvine (2009-2013)
∗ Ph.D. Oxford University & National Institutes of Health (2005-2009)
∗ B.Sc. Massachusetts Institute of Technology (1998-2002)
