Loren DM Pena, MD, PhD
- Clinical Geneticist, Division of Human Genetics
- Professor, UC Department of Pediatrics
- Board Certified
About
Biography
My specialty is clinical genetics. I mainly focus on metabolic and lysosomal disorders and skeletal dysplasias. I like to use my genomics knowledge and clinical research experience to offer hope for a diagnosis and a treatment. I became interested in this work as I love the energy and straightforwardness of interacting with children.
I have a PhD in cancer biology as part of the Medical Scientist Training Program from Northwestern University, Evanston, IL, which provides me with a strong background as a geneticist because I understand our diagnostic technology and as a skilled clinical investigator because I rely on objective data to think about promising treatments.
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 evaluating patients who have had extensive evaluations yet remain undiagnosed.
As a researcher, I characterize newly described rare disorders so we can better understand how to care for our patients and develop new treatments. Two of the conditions that I study are Shashi Pena syndrome and IRF2BPL-related neurodevelopmental disorder. I’m 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 by rare disorders.
In my spare time, exploring the high desert of southern Utah is my happy place.
BS: Biology, Duke University, Durham, NC, 1995.
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.
Interests
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
Genetics
Interests
Gene discovery; utilization of genomic technologies for diagnostics; development of new therapeutic approaches for rare disorders
Research Areas
Human Genetics
Additional Languages
SpanishLocations (2)
Insurance Information
Cincinnati Children's strives to accept a wide variety of health plans. Please contact your health insurance carrier to verify coverage for your specific benefit plan.
Publications
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial. JAMA Neurology. 2023; 80:558-567.
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2023; 25:100831.
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. Molecular Cytogenetics. 2022; 15:10.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. Journal of Neuromuscular Diseases. 2022; 9:713-730.
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. 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. Neurology. 2022; 99:e536-e548.
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center. Frontiers in Genetics. 2022; 13:887698.
ARIMOCLOMOL IN ADULTS WITH NPC IN A REAL-WORLD SETTING DATA FROM AN EXPANDED ACCESS PROGRAM IN THE USA. Molecular Genetics and Metabolism. 2022; 135:290.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiology in the Young. 2022; 32:364-373.
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science Advances. 2022; 8:eabl5613.
From the Blog
Rare Disease Day: More Tools for Solving Diagnostic Mysteries
Loren DM Pena, MD, PhD, Theodosia A. Kalfa, MD, PhD3/1/2021
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