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kelsen [at] chop.edu
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3401 Civic Center Blvd
Philadelphia, PA 19104
United States

Research Topics
Judith R. Kelsen, MD
Judith R. Kelsen
Co-Leader, Center for Inflammatory Bowel Disease Frontier Program

Dr. Kelsen’s research focus is on the genetic, immunologic, and microbiomic causes of very early onset inflammatory bowel disease. Through a multidisciplinary team approach, Dr. Kelsen and her colleagues perform genetic sequencing to identify causative genetic variants in children with VEO-IBD, study the function of these variants, and use this information to improve the clinical outcomes for these children.

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Bio

Dr. Kelsen's research focuses on developing new ways to treat and prevent inflammatory bowel disease (IBD), including in very young children with the disease, known as very early onset inflammatory bowel disease (VEO-IBD).

Dr. Kelsen and her colleagues hypothesized that monogenic and oligogenic defects are responsible for a significant subset of patients with VEO-IBD, and the biologic effects of the identified variants can be characterized and validated by a multidisciplinary approach. They therefore developed a VEO-IBD Program and joint gastroenterology/immunology VEO-IBD Clinic at Children’s Hospital of Philadelphia.This collaborative team of physicians and scientists work together to analyze genomic architecture, immune dysregulation, epithelial function, and intestinal microbes in children with VEO-IBD.

Dr. Keslen and her team is also investigating intestinal microbes (gut microbiome) and the dysregulated immune response to these microbes in children with VEO-IBD. They hypothesize that children with VEO-IBD have altered gut microbes as compared to healthy children and as compared to older onset IBD. In addition, they believe this alteration correlates with specific genetic variants identified by whole exome sequencing.

The goal through these combined projects is develop insight into the disease and lead to a precision medicine approach, with targeted and individualized therapies, including novel therapeutics, to improve the lives of children with VEO-IBD and pediatric IBD.

Among her notable accomplishments, Dr. Kelsen:

  • Used whole exome sequencing to identify an enrichment in primary immunodeficiencies genes
  • Identified >32 rare or novel gene defects in patients with VEO-IBD
  • Characterized the impact of these genes on immune cell and/or gut epithelium function

These studies have already led to new mechanistic insight into IBD and novel targeted therapy for our patients

 

Education and Training

BA, Stern College, Yeshiva University, 1996

MD, The Weill Medical School of Cornell University, 2001

MTR, University of Pennsylvania (Translational Research), 2013

Titles and Academic Titles

Co-Leader, Center for Inflammatory Bowel Disease Frontier Program

Director, Very Early Onset Inflammatory Bowel Disease Program

Director, Joint Gastroenterology/Immunology VEO-IBD Clinic

Attending Physician

Associate Professor of Pediatrics

Professional Memberships

American Academy of Pediatrics, 2001-

North American Society for Pediatric Gastroenterology,

Hepatology and Nutrition, 2006-

American Gastroenterological Association, 2006-

American Association for the Study of Liver Diseases, 2006-

The Crohn's and Colitis Foundation of America, 2010-

American Association for the Study of Liver Diseases, 2006-

Professional Awards

North American Society for Pediatric Gastroenterology Hepatology, and Nutrition Travel Grant, 2008

Komarov Research Competition, Clinical Sciences, 3rd place, 2009

We Care Digestive Disease Week Travel Grant, 2009

Young Faculty Investigator Award, The North American Society for Gastroenterology, Hepatology and Nutrition, 2014

Publication Highlights