School of Medicine
Showing 201-300 of 1,546 Results
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Paige Calvert
Clinical Instructor (Affiliated), Pediatrics - Genetics
BioPreferred Email: paige.calvert@hhs.sccgov.org
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Andres Cardenas
Assistant Professor of Epidemiology and Population Health and, by courtesy, of Pediatrics
BioI am an environmental epidemiologist and serve as an Assistant Professor in the Department of Epidemiology and Population Health at Stanford University. I joined the faculty at Stanford School of Medicine in 2022.
My research focuses on characterizing molecular and epigenetic biomarkers and the extent to which these alterations contribute to disease risk throughout the life course. My group utilizes computational approaches to investigate environmental chemical mixtures, biological aging markers and fetal epigenetic programming. We have several studies looking at chemical and non-chemical stressors in early-life and subsequent health including; neurodevelopment, obesity and immune function.
My research examines the intersection of chemical and social environments in shaping health and disease. -
Jan Carette
Professor of Microbiology and Immunology
Current Research and Scholarly InterestsOur research focuses on the identification of host genes that play critical roles in the pathogenesis of infectious agents including viruses. We use CRISPR genetic screens in human cells as an efficient approach to perform loss-of-function studies. Besides obtaining fundamental insights on how viruses hijack cellular processes and on host defense mechanisms, it may also facilitate the development of new therapeutic strategies.
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Suzan L Carmichael, PhD, MS
Professor (Research) of Pediatrics (Neonatology), of Obstetrics & Gynecology (Maternal Fetal Medicine) and, by courtesy, of Epidemiology and Population Health
Current Research and Scholarly InterestsDr. Carmichael is a perinatal and nutritional epidemiologist and Professor of Pediatrics and Obstetrics and Gynecology at the Stanford University School of Medicine.
Her team is committed to finding ways to improve maternal and infant health outcomes and equity by leading research that identifies effective leverage points for change, from upstream 'macro' social and structural factors, to downstream clinical factors (eg, related to care and morbidities) through a collaborative research approach that integrates epidemiologic approaches with community engagement and systems thinking.
Exposure themes include social context, nutrition, care, environmental contaminants and genetics. Outcome themes include severe maternal morbidity, stillbirth, birth defects, and preterm delivery. She is particularly interested in understanding the intersectionality of these varied types of exposures and outcomes and how they interact to impact health and health disparities, for the mother-baby dyad.
Please see the team web-site for further information!
https://med.stanford.edu/carmichaellab.html -
Angela Castellanos
Clinical Assistant Professor, Pediatrics
Current Research and Scholarly InterestsImproving care for patients who speak languages other than english, medical communication and information sharing with the public
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Ricardo Castillo
Associate Professor of Pediatrics (Gastroenterology) at the Lucile Salter Packard Children's Hospital, Emeritus
Current Research and Scholarly InterestsStudy of the interaction and role of nutrients and intestinal growth factors in enhancing intestinal adaptation and allograft viability using animal models for short bowel syndrome and orthtopic intestinal transplantation.
Study of immunosuppression regimens and induction of immune tolerance in intestinal transplantation. -
Robert Castro
Clinical Professor, Pediatrics - Neonatology
Current Research and Scholarly InterestsNeonatal Fluid Balance
Surfactant
Lung Fluid Reabsorption -
John Robert Caton
Clinical Associate Professor, Pediatrics - Cardiology
BioI am a general Pediatric Cardiologist providing clinical care for a wide variety of congenital and acquired heart disease. I see patients in the outpatient clinic and the inpatient Cardiology Acute Care Unit. I also interpret echocardiograms and exercise studies performed at LPCH.
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Lisa J. Chamberlain
Professor - University Medical Line, Pediatrics - General Pediatrics
Current Research and Scholarly InterestsChild Health disparities - Projects focus on elucidating the non-clinical factors that impact access to appropriate care for children with chronic illness.
Health Policy - Projects explore the intersection of medicine as a profession and formation of child health policy. -
Kay W. Chang, MD
Professor of Otolaryngology - Head & Neck Surgery (OHNS) and, by courtesy, of Pediatrics
Current Research and Scholarly Interestshttp://med.stanford.edu/ohns/research/labs_chang.html
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Abanti Chaudhuri
Clinical Professor, Pediatrics - Nephrology
BioMedical Director of Pediatric Hypertension program
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Xi Ying Amanda Chen
Postdoctoral Scholar, Stem Cell Transplantation
BioDr. Chen completed a Bachelor of Science (Honours) at the University of Sydney (NSW, Australia), with majors in Molecular Biology and Immunobiology. She graduated with the University Medal for her Honours research project where she investigated the novel role of DNA damage repair machinery on telomerase recruitment to telomeres. She then undertook her graduate studies at the Peter MacCallum Cancer Centre (The University of Melbourne, VIC, Australia) in the Beavis laboratory, where she developed a CRISPR knock-in strategy to engineer armored CAR T cells to express therapeutic payloads in a tumor-restricted manner. She joined the Porteus laboratory in the Department of Pediatrics at Stanford University in March 2025, where she is developing strategies to enhance gene-edited hematopoietic stem cell transplantation.
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Diana Chen
Clinical Associate Professor, Pediatrics - Pulmonary Medicine
BioDr. Chen is a Clinical Assistant Professor with the Division of Pediatric Pulmonary and Sleep Medicine. She grew up in the Bay Area and attended undergraduate school at UC Berkeley (Go Bears!). She ventured across the country received her graduate and medical degrees at Boston University School of Medicine. After experiencing cold and snowy winters of the east coast, she returned to the Bay Area where she completed her pediatric residency and pulmonology fellowship at UCSF Benioff Children's Hospital Oakland. She joined Bay Area Pediatric Pulmonary Medical Group and subsequently the Division of Pediatric Pulmonary Medicine at Stanford University in 2015. She then followed her husband and moved to Los Angeles in 2016 where she joined the Division of Pediatric Pulmonology at UCLA as Associate Director of the Cystic Fibrosis Center. A few years later, she decided to return to her roots in the Bay Area. She made her way back to Stanford University and rejoined the pediatric pulmonology group in November 2019. She enjoys caring for children, from infancy and beyond, with pulmonary diseases and developing relationships with their families. Her particular interests include bronchopulmonary dysplasia, asthma, neuromuscular disease, cystic fibrosis, and evaluation of complex airways with bronchoscopy. She also has interest in quality improvement and policy and procedure development.
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Mary M. Chen, MS, MBA
Executive Director, Maternal & Child Health Research Institute, Peds/Child Health Research Program
Current Role at StanfordAssistant Dean of Maternal and Child Health Research; Executive Director of the Stanford Child Health Research Institute.
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Sharon F. Chen
Clinical Professor, Pediatrics - Infectious Diseases
Current Research and Scholarly InterestsMy interest is in viral infections affecting immunocompromised patients. As Co-director of Stanford Childrens' PIDPIC, I develop and conduct clinical studies to establish best practices and start new clinical initiatives that push the frontier.
My scholarly interests also extends to education research in how people think and make decisions. She is building an AI tool that augments an instructor’s skill to coach learners on improving their critical thinking and metacognition. -
Alan G. Cheng, MD
Edward C. and Amy H. Sewall Professor in the School of Medicine, Professor of Otolaryngology - Head & Neck Surgery (OHNS) and, by courtesy, of Pediatrics
Current Research and Scholarly InterestsActive Wnt signaling maintains somatic stem cells in many organ systems. Using Wnt target genes as markers, we have characterized distinct cell populations with stem cell behavior in the inner ear, an organ thought to be terminally differentiated. Ongoing work focuses on delineating the developing significance of these putative stem/progenitor cells and their behavior after damage.
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Patrisha Cherry
Adm Svcs Admstr 1, Pediatrics - Neonatology
Current Role at StanfordAs a Program Manager within the esteemed Department of Pediatrics, Neonatology Division, Patrisha Ann Cherry is entrusted with the pivotal responsibility of coordinating and facilitating programs vital to Maternal Health with the CMQCC Team. This role involves a multifaceted approach, requiring a keen eye for detail, strategic planning, and proactive problem-solving.
Key Responsibilities and Contributions:
Patrisha exhibits exceptional prowess in composing, drafting, and editing a wide array of documents. Whether it's presentations, grants, course handouts, or reports, she ensures accuracy and clarity, maintaining a high standard in all organizational communications.
Financial Transactions and Budget Oversight:
Educational Background:
Master of Public Health (MPH) from the University of California, Berkeley, Berkeley - May 2024
Bachelor of Science in Psychology and Social Actions
Palo Alto University, Palo Alto - September 2019
Professional Development:
Practicum - County of Santa Clara Office of Public Health (Maternal Health/Healthy Communities)
Additional Attributes:
Committed to the diversity, inclusion, equitable and respectful provision of care, and working with communities of color. -
Kevin Wei-Han Chi
Clinical Associate Professor, Pediatrics
Current Research and Scholarly InterestsMedical Student Education, Patient Education, High Value Care
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Nymisha Chilukuri, MD
Clinical Assistant Professor, Pediatrics - General Pediatrics
Current Research and Scholarly InterestsMy research interests are to use clinical informatics to improve access to equitable care for children in under-served communities. My main areas of research interest currently include optimizing clinical informatics solutions for those with non-English preferred languages and improving interoperability between health systems, public health and community partners for pediatric patients and families.
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Ritu Chitkara
Clinical Professor, Pediatrics - Neonatology
Current Research and Scholarly InterestsSimulation based research, Neonatal Resuscitation research
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Mildred Cho, PhD
Professor (Research) of Pediatrics (Center for Biomedical Ethics) and of Medicine (Primary Care and Population Health)
Current Research and Scholarly InterestsDr. Cho's major areas of interest include: ethical and social issues in genetic research, including those arising from gene therapy and editing, synthetic biology, microbiome research, the use of artificial intelligence to analyze genomic and medical data, the effects of gene patenting on clinical genetic testing and research, and the impacts of academic-industry ties on biomedical research.
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Valerie Chock
Professor of Pediatrics (Neonatology) and, by courtesy, of Obstetrics and Gynecology (Maternal Fetal Medicine)
Current Research and Scholarly InterestsNeurological monitoring in critically ill infants. Altered hemodynamics in neonates, especially in relation to prematurity, congenital heart disease, and central nervous system injury. Determination of the hemodynamic significance and effects of a patent ductus arteriosus in the preterm infant. Utilizing NIRS (near-infrared spectroscopy) and other technologies for improved monitoring in the NICU.
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Ricky Y. Choi, MD, MPH
Clinical Assistant Professor, Pediatrics - General Pediatrics
BioRicky Y. Choi, MD, MPH is Clinical Assistant Professor at the Stanford University School of Medicine in the Division of General Pediatrics where he attends on the newborn nursery service and in outpatient clinic. He also leads digital health initiatives for the Division. In the past he has served in a number of clinical leadership positions including as the Department Head of Pediatrics at Asian Health Services Community Health Center in Oakland, CA. He has held multiple national physician leadership roles for many years including the Board of Directors for the National Physicians Alliance and as the founding Chair of the Immigrant Child Health Group of the American Academy of Pediatrics. He is a past Fellow of the California HealthCare Foundation Health Care Leadership Program.
In addition to his clinical work, Dr. Choi serves as the Head of Digital Health at Samsung Electronics America where he leads virtual care, strategy and strategic partnerships. Initially based out of Samsung's headquarters in South Korea and now in the Bay Area, Dr. Choi's expertise is in delivering improved clinical and financial outcomes by using consumer technologies to drive health engagement. -
Danny Hung-Chieh Chou
Associate Professor of Pediatrics (Endocrinology) and, by courtesy, of Chemical and Systems Biology
Current Research and Scholarly InterestsOur research program integrates concepts of chemical biology, protein engineering and structure biology to design new therapeutic leads and generate probes to study biological processes. A key focus of our lab is insulin, an essential hormone in our body to reduce blood glucose levels. We generate synthetic libraries of insulin analogs to select for chemical probes, and investigate natural insulin molecules (e.g. from the venom of fish-hunting cone snails!) to develop novel therapeutic candidates. We are especially interested in using chemical and enzymatic synthesis to create novel chemical entities with enhanced properties, and leverage the strong expertise of our collaborators to apply our skill sets in the fields of cancer biology, immunology and pain research. Our ultimate goal is to translate our discovery into therapeutic interventions in human diseases.
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Megan Christofferson
Department Fellowship Manager, Pediatrics
Current Role at StanfordDepartment Fellowship Manager, Department of Pediatrics
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Derek Chu, MD
Clinical Associate Professor, Dermatology
Clinical Associate Professor (By courtesy), PediatricsBioDerek Chu, M.D., is Clinical Associate Professor of Dermatology and Pediatrics at Lucile Packard Children's Hospital. He completed his medical school and residency training at the University of Pennsylvania, followed by a pediatric dermatology fellowship at UCSF. Dr. Chu's clinical interests encompass a wide array of topics within pediatric dermatology, including vascular tumors and malformations, inflammatory skin diseases, dermato-oncology, neonatal dermatology, and procedural dermatology.
Email: derekchu@stanford.edu -
Ian Chua
Clinical Associate Professor, Pediatrics
BioIan Chua, MD, MHPE, MBA is a bicoastal pediatric hospitalist and clinical associate professor of pediatrics at Stanford Children’s Health (Palo Alto, CA) and Children’s National Medical Center (Washington, DC). He completed his residency at Stanford Children’s with concentrations in medical education and quality improvement. He obtained his Masters’ in Health Professions Education at University of Illinois in Chicago. He currently co-directs the Quality and Leadership Training (QUILT) program in the department of pediatrics as well as the PHM Leadership Rotation. He also directs the ACGME Fellows’ Common Core Curriculum, the PHM Fellowship Medical Education Pathway, and the Pediatric residency medical education pathway at Children’s National Medical Center. His interests have been in educational scholarship and professional development of transitional learners including junior faculty. Nationally, he has been involved in shaping the national PHM fellows' conference and is the current co-chair for the AAP SOHM Emerging Leaders Conference.
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Henry Chubb
Clinical Associate Professor, Pediatrics - Cardiology
Current Research and Scholarly Interestshttps://www.researchgate.net/profile/Henry_Chubb
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Stephanie Cizek
Clinical Associate Professor, Obstetrics & Gynecology
Clinical Associate Professor (By courtesy), PediatricsBioI am a Pediatric and Adolescent Gynecologist, which combines my passion for gynecology with my love of working with children and young adults (and the people who care for them!). My approach to providing care is a collaborative one: my patients are individually unique and special, and their care should be tailored to be the best fit for them.
Prior to joining the Stanford faculty, I completed a fellowship in Pediatric and Adolescent Gynecology, From an academic standpoint, my current research focuses include: Gynecologic care for Oncology Survivors including Onco-Fertility and vulvovaginal graft-versus-host disease; gynecologic care of patients with Anorectal Malformations; Differences of Sex Development, Intersex conditions, and reproductive tract differences; and surgical care in pediatric gynecology. -
Daniel Clark, MD, MPH
Clinical Assistant Professor, Medicine - Cardiovascular Medicine
Clinical Assistant Professor, Pediatrics - CardiologyBioDr. Clark is a board-certified, fellowship-trained cardiologist with the Adult Congenital Heart Program at Stanford Health Care. He is also a clinical assistant professor with dual appointments in the Division of Cardiovascular Medicine, Department of Medicine and the Division of Cardiology, Department of Pediatrics at Stanford University School of Medicine.
Dr. Clark specializes in the diagnosis and treatment of adult congenital heart disease (ACHD) and the management of congenital and acquired heart disease in children. His clinical focus involves the combined use of cardiac magnetic resonance (CMR) and other imaging techniques to evaluate patients with known or suspected cardiovascular disease. Dr. Clark’s extensive training and experience with these techniques include multiple fellowships in adult cardiology, cardiovascular imaging, and ACHD.
Dr. Clark is currently a co-investigator on multiple research studies. During his fellowship, he received a training grant from the National Institutes of Health enabling evaluation of the ability of CMR to diagnose COVID-19-associated heart inflammation among college athletes. He currently uses CMR to assess heart transplant outcomes in donors positive for hepatitis C virus. Dr. Clark also received a research grant from the Adult Congenital Heart Disease Association supporting a randomized, controlled clinical trial of cardiac rehabilitation among patients with Fontan failure.
Dr. Clark serves as a peer reviewer for multiple prestigious journals, including The New England Journal of Medicine, Circulation, Journal of the American College of Cardiology, and Journal of the American Heart Association (JAHA). He serves on the editorial board for both JAHA and Circulation: Cardiovascular Imaging. He is also a member of numerous professional medical societies, including the American College of Cardiology, the American Heart Association, and the Adult Congenital Heart Association. -
Shoa L. Clarke, MD, PhD
Assistant Professor of Medicine (Stanford Prevention Research Center) and of Pediatrics (Cardiology)
BioDr. Clarke is a preventive cardiologist and a physician-scientist focused on disease prevention. He earned his undergraduate degree in human biology from the Division of Nutritional Sciences at Cornell University before obtaining his MD and PhD (genetics) from Stanford University School of Medicine. He has completed clinical training in internal medicine (Brigham & Women’s Hospital), pediatrics (Boston Children’s Hospital), and cardiovascular medicine (Stanford Hospital), and he is board certified in all three specialties. His research is focused on 1) understanding complex disease genetics in diverse populations, 2) integrating monogenic and polygenic risk with clinical risk, 3) large-scale phenotyping using the electronic health record and medical images. His clinical practice focuses on identifying risk factors for cardiovascular disease with the goal of promoting health and longevity through evidence-based personalized treatment. He is interested in developing family-centric approaches for the treatment of adults and children carrying genetic risk for disease.
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Carol Clayberger
Professor (Research) of Pediatrics, Emerita
Current Research and Scholarly InterestsOur group uses molecular biology, biochemistry, and cellular immunology to investigate the activation and effector function of T lymphocytes. Research in the laboratory is currently focused on three areas: granulysin, a lytic molecule expressed late (7-12 days) after T cell activation; identification of correlates of immunity in diseases such as tuberculosis; and tolerance. The long term goal of this work is to develop new ways to treat human disease.
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Harvey Cohen
Deborah E. Addicott - John A. Kriewall and Elizabeth A. Haehl Family Professor of Pediatrics, Emeritus
Current Research and Scholarly InterestsMy research interests extend from hypothesis-driven studies in biochemistry and cell biology to discovery-driven interests in proteomics and systems biology to clinical treatment of acute lymphoblastic leukemia of children, and pediatric palliative care.
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Mitchell B Cohen
Elizabeth Wood Dunlevie Professor and Senior Associate Dean, Maternal and Child Health
BioMitchell B. Cohen, M.D., is a Professor in the Department of Pediatrics in the School of Medicine. He serves as the Chief Medical Officer for Stanford Medicine Children’s Health and the Senior Associate Dean in the School of Medicine for Maternal and Child Health. From 2014-2024, he was the Katharine Reynolds Ireland Chair of Pediatrics at the University of Alabama at Birmingham and the Physician-in-Chief of Children’s of Alabama. Prior to that, he served as the Director of Gastroenterology, Hepatology and Nutrition and Vice Chair of Pediatrics at Cincinnati Children’s Hospital Medical Center.
Dr. Cohen was the founding Director of the P30 Cincinnati Digestive Health Center: Bench to Bedside Research in Pediatric Digestive Diseases His research focused on the mechanism of action of E. coli heat stable enterotoxin, a worldwide cause of infant diarrhea. His laboratory identified that increased guanylyl cyclase (GC-C) receptors for this toxin contributed to the increased susceptibility and severity of diarrhea seen in infants. Identification of the endogenous ligands for GC-C, guanylin and uroguanylin, led to development of knockout mice and an evolving understanding of intestinal secretion and pharmacologic treatment through this ligand-receptor family. Dr. Cohen had a long-standing NIH-supported program of vaccine trials for enteric infection, including a validated human cholera challenge model which resulted in licensure of a cholera vaccine.
Dr. Cohen has held leadership positions in several professional capacities. He served as the only pediatrician on the NIH Commission on Digestive Diseases; he was chair of the Section on Growth, Development and Nutrition of the American Gastroenterological Association (AGA) and the Section on Gastroenterology, Hepatology and Nutrition (SOGHN) of the American Academy of Pediatrics; he was President of NASPGHAN, the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Dr. Cohen was elected to membership in the Association of American Physicians and has received several lifetime achievement awards, including the Shwachman Award from NASPGHAN, the Saul Horowitz Jr. Award from Mt. Sinai, and the UAB Department of Pediatrics Lifetime Achievement Award. -
Pasqualina Colella
Affiliate, Pediatrics - Genetics
BioDr. Pasqualina Colella is a scientist with expertise in gene and cell therapy for inherited diseases. She is currently a Senior Research Scientist at Stanford University, where she leads translational research on hematopoietic stem cell transplantation (HSCT), microglia replacement, myeloid cell recruitment to the central nervous system, and genome editing. Her goal is to improve treatment outcomes for neurodegenerative lysosomal storage diseases.
Dr. Colella earned her PhD at TIGEM (Italy), where she developed gene therapies for inherited retinal disorders, including dual AAV approaches for large gene delivery targeting Usher syndrome type 1B and Stargardt disease. During her postdoctoral studies at Genethon (France), she advanced AAV-based gene therapy for Pompe disease, improving efficacy through transgene and promoter engineering. Her work has contributed to several ongoing clinical trials, including those for USH1B and Pompe disease.
Her research has led to more than 30 peer-reviewed publications (16 as first author, 7 as co-corresponding) and 6 patents. She has received awards including the Marie Skłodowska-Curie Fellowship, the Innovative Research Grant from the National MPS Society, and Stanford School of Medicine Shoshana Levy Award to Support Women in Science (Career Development Award). She was also a finalist for the ERC Starting Grant in 2019. -
Ruben J Colman, MD, PhD
Assistant Professor of Pediatrics (Gastroenterology)
BioDr. Colman is a pediatric gastroenterologist and physician-scientist with an overarching goal to improve and optimize the quality of care and outcomes for children with inflammatory bowel diseases (IBD) through precision medicine approaches. His interdisciplinary team science research program focuses on making precision medicine clinically actionable through innovative solutions merging clinical pharmacology knowledge with ‘-omics’ discoveries using microbiome and metabolomics signatures. Part of this work includes translating these findings into improved clinical treat-to-target endpoints with immediate noninvasive point-of-care measures such as intestinal ultrasound.
The foundation of his current work originates from his PhD titled ‘Precision Dosing and Personalized Medicine in pediatric IBD’. During his training, Dr. Colman was also an American Gastroenterological Association (AGA) editorial fellow for Gastroenterology and he is actively involved in the committees of several professional societies including the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN), the Crohn’s and Colitis Foundation and the International Bowel UltraSound (IBUS) Group. Dr. Colman is supported by a Career Development K23 Award from the NIH, which focuses on evaluating personalized treatment strategies for children with Crohn's disease, specifically examining microbial and transmural intestinal ultrasound findings. He is also funded by awards of the NASPGHAN Foundation and the Stanford Pediatrics Physician-Scientist Bridge to K Program. -
Le Cong
Associate Professor of Pathology (Pathology Research) and of Genetics
Current Research and Scholarly InterestsOur lab develops gene-editing technologies like novel CRISPR systems and large gene insertion techniques for gene and cell therapy. We also leverage these gene-editing tools for single-cell functional screening to probe mechanisms of cancer, immunological, and aging-associated diseases. To accelerate our work, we integrate AI and machine learning to design and evolve therapeutic RNAs/proteins, and build AI-XR co-scientists like LabOS that bridge AI computation and biomedical experimentation.
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Christopher H. Contag
Professor of Pediatrics (Neonatology), Emeritus
Current Research and Scholarly InterestsWe develop and use the tools of molecular imaging to understand oncogenesis, reveal patterns of cell migration in immunosurveillance, monitor gene expression, visualize stem cell biology, and assess the distribution of pathogens in living animal models of human biology and disease. Biology doesn't occur in "a vacuum" or on coated plates--it occurs in the living body and that's were we look for biological patterns and responses to insult.
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David N. Cornfield
Anne T. and Robert M. Bass Professor of Pediatric Pulmonary Medicine
Current Research and Scholarly InterestsOver the past 20 years, the Cornfield Laboratory has focused upon basic, translational and clinical research, with a primary focus on lung biology. As an active clinician-scientist, delivering care to acutely and chronically ill infants and children, our lab focuses on significant clinical challenges and tried to use science to craft novel solutions to difficult clinical problems.
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Jennifer Cory
Director of Strategy and Operations, Peds/CDCM Center for Definitive and Curative Medicine
Current Role at StanfordDirector of Strategy and Operations, Center for Definitive and Curative Medicine
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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.
