Pediatrics
Showing 1-60 of 60 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 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..
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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.
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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.
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Natalia Gomez-Ospina
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.
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) -
David Stevenson
Professor of Pediatrics (Genetics)
Current Research and Scholarly InterestsMy research focuses on disorders of the RAS/MAPK pathway (eg. NF1, Noonan, CFC, and Costello syndrome). I am working on understanding the impact of RAS signaling on the musculoskeletal system. I use genomic approaches to identify somatic events and modifiers in the RASopathies. I am also involved in identifying outcome measures for use in clinical trials for the associated orthopedic manifestations. Other areas of research involve vascular anomalies, Prader-Willi syndrome, and hypophosphatasia.
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Christina (Christy) Tise, MD, PhD
Assistant Professor of Pediatrics (genetics)
BioDr. Christina (Christy) Tise is a physician scientist and Assistant Professor in the Division of Medical Genetics at Stanford with subspecialty training in Clinical Biochemical Genetics. Dr. Tise has developed multiple research projects focused on the clinical impact of biochemical genetic conditions in pregnancy and newborn health, including a project focused on unforeseen diagnoses in individuals initially identified through state newborn screening which has resulted in a number of publications.
Dr. Tise also researches the genetic etiologies of recurrent pregnancy loss and the impact of inherited metabolic conditions on human reproduction. She is involved in several research initiatives including contributing to the development of TRIOS, a multi-site, NIH-funded research study to evaluate the genetic causes of recurrent pregnancy loss. In serving as the primary research mentor for a recent Masters of Genetic Counseling graduate, Dr. Tise’s research on carrier and newborn screening has highlighted areas of ancestry-related healthcare inequities specific to the field of Medical Genetics.
Dr. Tise’s primary academic and advocacy interests are embodied in this work, specifically the overlap between biochemical and molecular analysis, and the clinical utility of innovative technologies for diagnosis and treatment of genetic disease. This is an unbelievably thrilling time for the field of Medical Genetics, as it promises immense progress and opportunity for all fields of medicine, and Dr. Tise is determined, honored, and incredibly excited to be a part of it!
Research interests: newborn screening, carrier screening, prenatal screening, genetics of recurrent pregnancy loss, biochemical genetics, novel gene discovery, variant interpretation, founder populations, diagnostic genetic testing, bioethics, GWAS/ExWAS -
Hannes Vogel MD
Professor of Pathology and of Pediatrics (Pediatric Genetics) and, by courtesy, of Neurosurgery, Neurology and of Comparative Medicine
Current Research and Scholarly InterestsMy research interests include nerve and muscle pathology, mitochondrial diseases, pediatric neurooncology, and transgenic mouse pathology.
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Linbo Yu
Clinical Instructor (Affiliated), Pediatrics - Genetics
BioLinbo Yu is a genetic counselor and a founding member of Stanford’s Genetic Testing Optimization Service (GTOS). She received her undergraduate degree from the University of California, Los Angeles in 2007 and her master’s degree in genetic counseling from the University of California, Irvine in 2009. She started her career at Ambry Genetics. In 2014, she became the first lab genetic counselor at Stanford Hospital and helped establish Genetic Testing Optimization Service (GTOS). As a passionate clinical liaison between Stanford Clinical Lab and the ordering providers at Stanford, some of her roles include assisting clinicians with selection of genetic tests, reviewing genetic test orders for clinical appropriateness and educating ordering providers about genetic diseases and test information. Linbo is also a clinical instructor of Department of Pediatrics, and she enjoys clinical supervision of genetic counseling students.
