A photo of Loren Peña.

Clinical Geneticist, Division of Human Genetics

Associate Professor, UC Department of Pediatrics


Board Certified

My Biography & Research


I love the energy and forthrightness of interacting with children. I do my best to offer hope to families who are looking for a diagnosis or a treatment for their child. As a clinical geneticist, I work with children who have rare and orphan diseases, lysosomal storage disorders and metabolic disorders. I also work in neurogenetics and gene discovery.

I’m always glad to apply my knowledge and experience to partner with families in their diagnostic journey and to be able to provide hope in the form of promising treatments for patients affected with rare disorders.

I participated in the National Institutes of Health (NIH)-supported Medical Scientist Training Program at Northwestern University, where I received my PhD in cancer genetics in 2002 and my MD in 2004. I am trained and board certified in general pediatrics and clinical genetics.

My mantra is “it’s not over till it’s over.” I use my genomics experience to apply every tool at my disposal, in both the clinical and research areas, to reach a diagnosis. I developed the Post Exome Clinic at Cincinnati Children’s as a model for the evaluation of patients who have had extensive evaluations yet remain undiagnosed.

I am also interested in skeletal dysplasias. I’m a member of the Skeletal Dysplasias Center at Cincinnati Children's, where I collaborate with orthopaedics, radiology, and endocrinology to evaluate, diagnose and manage patients with these conditions.

In my research, I am the lead faculty member for clinical trials in genetics. I lead several clinical trials for rare conditions and in this way, I contribute to the field as we explore new candidate treatments. Leveraging genomic technology for diagnostics and exploring post-exome evaluations to improve the current diagnostic yield of exome and genome sequencing is another interest of mine.

Another area of research, which ties to development of new treatments, is characterizing the longitudinal history of new disorders, such as a new condition related to changes in the IRF2BPL gene. I described this new condition, NEDAMSS, as an investigator in the Undiagnosed Diseases Network at Duke University. I also maintain an interest in Shashi Pena syndrome, described in 2016 to be caused by mutations in the ASXL2 gene. I also collaborate on a multiinstitution registry for chromatin remodeling disorders.

When I’m not at work, hiking in the high desert of southern Utah is my happy place.

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

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

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Johnson, BV; Kumar, R; Oishi, S; Alexander, S; Kasherman, M; Vega, MS; Ivancevic, A; Gardner, A; Domingo, D; Corbett, M; et al. Biological Psychiatry. 2020; 87:100-112.

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, Y; 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.