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A photo of Loren Peña.

Clinical Geneticist, Division of Human Genetics

Associate Professor, UC Department of Pediatrics


Board Certified

My Biography & Research


Loren Pena, MD, PhD, is an associate professor of Pediatrics and attending geneticist at Cincinnati Children's Hospital Medical Center. She was selected to participate in the NIH-supported Medical Scientist Training Program at Northwestern University, where she received her MD in 2004 and PhD in cancer genetics in 2002. She is trained in general pediatrics and clinical genetics in Chicago, and maintains board certification in both specialties. Dr. Pena has a wide range of interests that include inborn errors of metabolism, particularly propionic acidemia and neurometabolic disorders, lysosomal storage disorders, skeletal dysplasias, and gene discovery. As an investigator in the Undiagnosed Diseases Network at Duke University, she described the new condition NEDAMSS, caused by mutations in the IRF2BPL gene, and described new approaches for diagnosis of rare disorders. She maintains an interest in Shashi Pena syndrome, described in 2016 to be caused by mutations in the ASXL2 gene.

At Cincinnati Children's Hospital Medical Center, Dr. Pena continues to utilize her experience in genomics to utilize all available molecular tools for diagnosis. She has developed the Post Exome Clinic as a model for evaluation of patients who have had extensive evaluations, yet remain undiagnosed. Dr Pena is also interested in skeletal dysplasias and is a member of the Skeletal Dysplasias Center at Cincinnati Children's Hospital Medical Center, where she collaborates with orthopedics, radiology and endocrinology to evaluate, diagnose and manage patients with these conditions.

In the research arena, Dr. Pena is the lead faculty member for clinical trials in genetics. She is interested in leveraging the latest technology to treat patients with rare disorders, and has extensive experience in enzyme replacement and substrate reduction therapy, antisense oligonucleotides, and gene replacement therapy as principal investigator in phase 1-4 clinical trials for Pompe and Gaucher disease, homocystinuria, and spinal muscular atrophy, among others. She is a past member of an institutional review board and was previously a certified clinical research professional. These experiences guide our strategy as we approach increasingly complex trials with unique demands.

Dr. Pena is glad to apply her knowledge and experience to partner with families in the diagnostic journey and to be able to provide hope in the form of promising treatments for patients affected with rare disorders.

Additional Languages


Clinical Interests

Inborn errors of metabolism; lysosomal storage disorders; skeletal dysplasias; primordial dwarfism conditions; Shashi Pena syndrome; neurodegenerative disorders

Research Interests

Gene discovery; utilization of genomic technologies for diagnostics; development of new therapeutic approaches for rare disorders

Academic Affiliation

Associate Professor, UC Department of Pediatrics


Genetics, Human Genetics

My Locations

  • Burnet Campus

    Burnet Campus

    3333 Burnet Ave.
    Cincinnati, Ohio 45229-3039
  • Eastgate


    796 Cincinnati-Batavia Pike
    Cincinnati, Ohio 45245
  • Mason


    9560 Children's Drive
    Mason, Ohio 45040

My Education

Medical Scientist Training Program: Northwestern University, Evanston, IL.

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

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

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

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

Certification: Pediatrics, 2007; Clinical Genetics, 2009.

My Publications

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. McConkie-Rosell, A; Schoch, K; Sullivan, J; Cope, H; Spillmann, R; Palmer, CG S; Pena, L; Jiang, YH; Daniels, N; Walley, N; et al. Clinical Genetics: an international journal of genetics and molecular medicine. 2019; 96:521-531.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Kishnani, PS; Gibson, JB; Gambello, MJ; Hillman, R; Stockton, DW; Kronn, D; Leslie, ND; Pena, LD M; Tanpaiboon, P; Day, JW; et al. Genetics in Medicine. 2019; 21:2543-2551.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Fountain, MD; Oleson, DS; Rech, ME; Segebrecht, L; Hunter, JV; McCarthy, JM; Lupo, PJ; Holtgrewe, M; Moran, R; Rosenfeld, JA; et al. Genetics in Medicine. 2019; 21:1797-1807.

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. Kumar, A; Zastrow, DB; Kravets, EJ; Beleford, D; Ruzhnikov, MR Z; Grove, ME; Dries, AM; Kohler, JN; Waggott, DM; Yang, Y; et al. American Journal of Medical Genetics, Part A. 2019; 179:966-977.

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. Van Hove, JL K; Freehauf, CL; Ficicioglu, C; Pena, LD M; Moreau, KL; Henthorn, TK; Christians, U; Jiang, H; Cowan, TM; Young, SP; et al. Journal of Inherited Metabolic Disease. 2019; 42:424-437.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Burrage, LC; Lanza, DG; Seavitt, JR; Li, X; Bertuch, AA; Eng, CM; Emrick, L; Rosenfeld, JA; Dickinson, ME; Beaudet, AL; et al. The American Journal of Human Genetics. 2019; 104:422-438.

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study. Pena, LD M; Barohn, RJ; Byrne, BJ; Desnuelle, C; Goker-Alpan, O; Ladha, S; Laforêt, P; Mengel, KE; Pestronk, A; Pouget, J; et al. Neuromuscular Disorders. 2019; 29:167-186.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Machol, K; Rousseau, J; Ehresmann, S; Garcia, T; Nguyen, TT M; Spillmann, RC; Sullivan, JA; Shashi, V; Jiang, YH; Stong, N; et al. The American Journal of Human Genetics. 2019; 104:164-178.

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Shashi, V; Schoch, K; Spillmann, R; Cope, H; Tan, QK G; Walley, N; Pena, L; McConkie-Rosell, A; Stong, N; Need, AC; et al. Genetics in Medicine. 2019; 21:161-172.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. Shashi, V; Magiera, MM; Klein, D; Zaki, M; Schoch, K; Rudnik-Schoeneborn, S; Norman, A; Neto, OL A; Dusl, M; Yuan, X; et al. The EMBO Journal. 2018; 37.