Center for Clinical Genetics
and Genomics

Damara Ortiz, MD

Damara Ortiz, MD
  • Assistant Professor of Pediatrics, UPMC
  • Interim Director, Lysosomal Storage Disorders Program, UPMC
  • Site Director, Medical Genetics Fellowship Program, UPMC
  • Board certified in Pediatrics and Clinical Genetics
  • MD, UMDNJ – Robert Wood Johnson Medical School New Brunswick, NJ, USA
  • Residency, New York University Langone Medical Center, New York, NY
  • Fellowship, Icahn School of Medicine at Mount Sinai Medical Center, New York, NY
Research Interests

I am currently participating as a co-investigator in several active research projects at Children’s Hospital of Pittsburgh involving several metabolic disorders (PKU, fatty acid oxidation disorders, innovative transplant protocols), and am involved in studies as the primary investigator for the lysosomal storage disorders.


Ortiz, D., Karger, L., Babcock, M., Edelmann, L., Babu, A., Mehta, L. Large distal duplication of chromosome 22q. Poster presentation.  American Society of Human Genetics, Annual Meeting 2014, San Diego, CA

Ortiz, D., Karger, L., Jalas, C., Neidich, J., Juusola, J., Bale, S., Herzenberg, J.E. and Webb, B.D.  A novel PITX1 mutation segregating with familial tibial hemimelia. Poster presentation. American Society of Human Genetics, Annual Meeting 2015, Baltimore, MD