Loren DM Pena, MD, PhD

Clinical Geneticist, Division of Human Genetics

Academic Affiliations

Associate Professor, UC Department of Pediatrics

Phone 513-636-4760

Email loren.pena@cchmc.org


Undiagnosed diseases; developmental regression; neurometabolic disorders; implementation of new therapies for rare diseases in the clinical arena


Natural history of rare disorders; new treatment approaches for rare diseases

Loren Pena, MD, PhD, has served as principal investigator for multiple clinical trials focused on rare disorders and spanning different treatment approaches that include gene therapy. She has also described several new genes involved in rare disorders. The goal of her clinical research is to facilitate development of new therapeutic approaches and to assess the safety and efficacy of candidate treatments for rare and orphan diseases via longitudinal observation/natural history and interventional studies.

PhD: Northwestern University, The Graduate School, Evanston, IL, 2002.

MD: Northwestern University, The Feinberg School of Medicine, Chicago, IL, 2004.

Residency: Pediatrics, The University of Chicago, Chicago, IL, 2007.

Residency: Clinical Genetics, The University of Chicago and Children's Memorial Hospital, Chicago, IL, 2009.