Pediatrics
Showing 1-36 of 36 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. -
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) -
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.