Damara Ortiz, MD

  • Assistant Professor of Pediatrics
  • Director, Lysosomal Storage Disorders Program
  • Program Director, Clinical Genetics and Genomics Residency
  • Medical Director, Genetic Counselor Training Program

I am currently a Clinical Geneticist at UPMC Children’s Hospital of where we manage a variety of complex and rare metabolic conditions and are involved in cutting-edge research and transplantation to improve the lives of patients and their families.I am also currently the director of our large lysosomal storage disorder program and have been so for the past 5 years.  I am the principal investigator for several lysosomal storage disorder clinical trials and registries.  I served as the associate program director of the Clinical Genetics and Genomics residency program for 3 years and am now the program director.  I have served in a teaching and supervision role since my medical genetics residency, where I was the Chief Resident, lecture regularly for the categorical pediatric residents, as well as the NICU and PICU fellows and created a didactic and board-review curriculum for our trainees (Clinical Genetics and Genomics, Clinical Biochemical, Laboratory Genetics and Genomics).  I am also involved in our Genetic Counselor Training program, where I serve as Medical Director, serve on thesis committees and lecture. 

Professional and Scientific Society Memberships 

  • American Academy of Pediatrics, Member, 2010-Present 
  • American Academy of Pediatrics, Fellow, 2013-Present 
  • American Society of Human Genetics, 2014-2016 
  • American College of Medical Genetics, 2015-Present 
  • Association of Professors of Human and Medical Genetics, 2018-Present  
  • Association of Pediatric Program Directors, 2019-Present

Education & Training

  • AB, Molecular Biology, Princeton University, 2005
  • MD, Robert Wood Johnston Medical School, 2010

Selected Publications

Valentine V, Sogawa Y, Rajan D, Ortiz D. A case of De Novo NAA 10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome)." Seizure. 2018 Jun 19; 60:120-122

Marcogliese, P.C,  Shashi, V., Spillmann, R.C., Stong, N., Rosenfeld, J.A., Koenig, M.K., Martínez-Agosto, J.A., Herzog, M., Chen, A.H., Dickson, P.I., Lin, H.J., Vera, M.U., Ortiz, D., Infante, E., Chung,H.L., Zuo, Z., Lee, P.T., Kanca, O., Xia, F., Yang, Y., Yamamoto, S., Wangler, M.F., Smith, E.C., Jasien, J., Kansagra, S., Spiridigliozzi, G., El-Dairi, M., Lark, R., Golden-Grant, K., Undiagnosed Disease Network, Mirzaa, G., Hemelsoet, D., Lee, B., Stanley F. Nelson, S.F., Goldstein, D.B., Bellen, H.J., Pena, L.D.M. "Haploinsufficiency in IRF2BPL¬ is associated with neurological phenotypes." Am J Hum Genet. 2018 Sep 6;103(3):456.

Burk, C.M., Coffey, K.E., Mace, E.M., Bostwick, B.L., Chinn, I.K., Coban-Akdemir, Z.H., Ortiz, D., Barnum, J.L., Allen, S.W., Robertson, L.M., Orange, J.S. and Chong, H.J. “Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.” J Allergy Clin Immunol Pract. 2020 Mar;8(3):1103-1106.e3

Feldt-Rasmussen, U., Hughes, D., Sunder-Plassmann, G., Shankar, S., Nedd, K., Olivotto, I., Ortiz, D., Ohashi, T., Hamazaki, T., Skuban, N., Yu, J., Barth, J.A., Nicholls, K. “Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomised, phase 3 ATTRACT study.” Mol Genet Metab. 2020 Sep-Oct;131(1-2):219-228

Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A.J., Gambello, M.J., Gener, B., Gerkes, E., Hitzert, M.M., Hove, H.B., Jansen, S., Jira, P.E., Lachlan, K., Menke, L.A., Narayanan, V., Ortiz, D., Overwater, El, Posmyk, R., Ramsey, K., Rossi, A., Lazari Sandoval, R., Stumpel, C., Stuurman, K.E., Turnpenny, P., Strisciuglio, P., Tartaglia, M., Unger, S., Waters, T., Turnbull, C and Hennekam, R.C. “Primrose Syndrome:  characterization of the phenotype in 41 patients.” Clin Genet. 2020 Jen; 97(6):890-901.

Tolchin, D., Yeager, J.P., Martinez, J.A., Haseeb, A., Ortiz, D., et al. “De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with Attention Deficit/Hyperactivity Disorder, Craniosynostosis and Osteochondromas.” Am J Hum Genet, 2020 June 4;106(6):830-845. 

Ficicioglu, C., Ahrens-Nicklas, R.C., Barch, J., Cuddapah, S.R., DiBoscio, B.S., DiPerna, J.C., Gordon, P.L., Henderson, N., Menello, C., Luongo, N., Ortiz, D., and Xiao, R. “Newborn Screening for Pompe Disease: Pennsylvania Experience." Int J Neonatal Screen. 2020 Nov 13;6(4):89.

Yatsenko, M.D, S.A., Aarabi, M., Hu, J., Surti, U., Ortiz, D., Madan-Khetarpal, S., Saller, D.N., Bellissimo, D., Rajkovic, A. “Copy number alterations involving 59 ACMG-recommended secondary findings genes.” Clin Genet. 2020 Dec;98(6):577-588.

Brunet, T., McWalter, K., Mayerhanser, K., Armstrong-Javors, A., Bader, I., Baugh, E., Begtrup, A., Bupp, C.P., Callewaert, B.L., Cereda, A., Cousin, M.A., Demmer, L.,  Dsouza, N.R., Fleischer, N., Gavrilova, R.H., Ghate, S., Graf, E., Green, A., Green20, S.R., Iascone, M., Kdissa, A., Klee, D., Klee, E.W., Lancaster, E., Lindstrom, K., Mayr, J.A., McEntagart, M., Meeks, N.J.L., Mittag, D., Moore, H., Olsen, A.K., Ortiz, D., Parsons, G., Pena, L.D.M, Person, R.E., Punj, S., Ramos-Rivera, G.A., Sacoto, M.J.G., Schaefer, G.B., Schnur, R.E., Scott, T.M., Scott, D.A., Serbinski, C.R., Shashi, V., Siu, V.M., Fossøy Stadheim, B., Sullivan, J.A., Švantnerová, J., Velsher, L., Wargowski, D.S., Wentzensen, I.M., Wieczorek, D., Winkelmann, J., Yap, P., Zech, M., Zimmermann, M.T., Zoran, S., Meitinger, T., Distelmaier, F., Wagner, M. “Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.” Genet Med. 2021 Feb;23(2):384-395.

Lahrouchi, N., Postma, A.V., Salazar, C.M., De Laughter, D.M., Tjong, F., Piherová, L., Bowling, F.Z., Zimmerman, D., Lodder1, E.M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Škorić‐Milosavljević, D., Stránecký, V., Tomek, V., de Knijff, P., de Leeuw, R., Robinson, J.Y., Burn, S.C., Mustafa, H., Ambrose, M., Moss, T., Jacober, J., Niyazov, D.M., Rousounides, A., Aristidou-Kallika, A., Tanteles, G., Ange-Line, B., Denommé-Pichon, A.S., Francannet, C., Ortiz, D., Haak, M.C., Ten Harkel, A.D.J., Manten, G.T.R., Dutman, A.C., Bouman, K., Magliozzi, M., Radio, F.C., Santen, G.W.E., Herkert, J.C., Elpeleg, O., van den Hoff, M.J.B., Mulder, B., Airola, M.V., Kmoch, S., Barnett, J.V., Clur, S.A., Frohman, M.A., Bezzina, C.R.  "Bi-allelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy." J Clin Invest. 2021 Mar 1;131(5):e142148.

Academic and Research Interests

  • Lysosomal storage disorders
  • Registry
  • Rare disease
  • Genetic disorder
  • Fabry disease
  • Gaucher disease
  • Hypophosphatasia (HPP)