A photo of Loren Peña.

Loren DM Pena, MD, PhD

  • Clinical Geneticist, Division of Human Genetics
  • Associate Professor, UC Department of Pediatrics
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.
Loren DM Pena, MD, PhD



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.

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.


Inborn errors of metabolism; lysosomal storage disorders; skeletal dysplasias; primordial dwarfism conditions; Shashi Pena syndrome; neurodegenerative disorders; undiagnosed genetic disorders; IRF2BPL-related disorders

Services and Specialties



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

Research Areas

Human Genetics

Additional Languages


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Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. Hu, X; Baker, EK; Johnson, J; Balow, S; Pena, LD M; Conlin, LK; Guan, Q; Smolarek, TA. Molecular Cytogenetics. 2022; 15:10.

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. Duong, T; Kishnani, PS; An Haack, K; Foster, MC; Gibson, JB; Wilson, C; Hahn, SH; Hillman, R; Kronn, D; Leslie, ND; et al. Journal of Neuromuscular Diseases. 2022; 9:713-730.

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Khalaf-Nazzal, R; Fasham, J; Inskeep, KA; Blizzard, LE; Leslie, JS; Wakeling, MN; Ubeyratna, N; Mitani, T; Griffith, JL; Baker, W; et al. The American Journal of Human Genetics. 2022; 109:2068-2079.

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease. Dimachkie, MM; Barohn, RJ; Byrne, B; Goker-Alpan, O; Kishnani, PS; Ladha, S; Laforêt, P; Mengel, KE; Peña, LD M; Sacconi, S; et al. Neurology. 2022; 99:e536-e548.

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. Baker, EK; Ulm, EA; Belonis, A; Brightman, DS; Hallinan, BE; Leslie, ND; Miethke, AG; Vawter-Lee, M; Wu, Y; Pena, LD M. Frontiers in Genetics. 2022; 13:887698.

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Byrne, BJ; Colan, SD; Kishnani, PS; Foster, MC; Sparks, SE; Gibson, JB; An Haack, K; Stockton, DW; Peña, LD M; Hahn, SH; et al. Cardiology in the Young. 2022; 32:364-373.

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Marcogliese, PC; Dutta, D; Ray, SS; Dang, ND P; Zuo, Z; Wang, Y; Lu, D; Fazal, F; Ravenscroft, TA; Chung, H; et al. Science Advances. 2022; 8:eabl5613.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Diaz-Manera, J; Kishnani, PS; Kushlaf, H; Ladha, S; Mozaffar, T; Straub, V; Toscano, A; van der Ploeg, AT; Berger, KI; Clemens, PR; et al. Lancet Neurology. 2021; 20:1012-1026.

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases. Kyle, JE; Stratton, KG; Zink, EM; Kim, YM; Bloodsworth, KJ; Monroe, ME; Bacino, CA; Hanchard, NA; Lewis, RA; Rosenfeld, JA; et al. Scientific Data. 2021; 8:114.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Rodan, LH; Spillmann, RC; Kurata, HT; Lamothe, SM; Maghera, J; Jamra, RA; Alkelai, A; Antonarakis, SE; Atallah, I; Bar-Yosef, O; et al. Genetics in Medicine. 2021; 23:1922-1932.

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