School of Medicine
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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.
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 of neurodevelopmental disorders. This work includes the application of novel computational methods and multi-omics profiling (whole genome sequencing, RNA sequencing, metabolomics). I additionally participate in an interdisciplinary project to develop induced pluripotent stem cell (iPSC) models of genetic neurodevelopmental disorders..
Basic Life Research Scientist, 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.
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, 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.
Professor of Pediatrics (Genetics)On Partial Leave from 09/01/2023 To 11/26/2023
Current Research and Scholarly Interestsmitochondrial 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 InterestsFunctional consequences and pathogenetic mechanisms of mutations and microdeletions in human neurogenetic syndromes and mouse models. Integration of genomic information into medical care.
Assistant Professor of Pediatrics (Genetics) and of Pediatrics (Stem Cell Transplantation)
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.
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