Rebecca Ahrens-Nicklas, MD, PhD

faculty photo
Assistant Professor of Pediatrics
Department: Pediatrics
Graduate Group Affiliations

Contact information
The Children's Hospital of Philadephia
1016H Abramson Research Center
3615 Civic Center Blvd
Philadelphia, PA 19104
Office: 215-834-7679
BS (Pharmacology)
Duke University, 2003.
PhD (Physiology & Biophysics)
Weill Cornell Medical College, 2010.
MD (MD/PhD Program)
Weill Cornell/ Rockefeller/Sloan-Kettering, 2011.
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Description of Clinical Expertise

Inborn Errors of Metabolism
Lysosomal Storage Disorders
Cardiomyopathy and Cardiac Arrhythmia Genetics

Description of Research Expertise

Research Interests: We study rare genetic disorders of the heart and brain both to further our understanding of basic biology and to develop new therapies for our patients.

Keywords: biochemical genetics, inborn errors of metabolism, electrophysiology, neuroscience, cardiomyopathy, targeted therapies, genetics, genomics, clinical genetics, gene discovery

Research Details: Our lab aims to develop better treatments for inherited disorders of biochemistry (i.e., inborn errors of metabolism, IEMs) by studying how these diseases alter the electrical activity of the brain and heart. While individually rare, IEMs occur in approximately 1/1,500 births. The vast majority of patients have neurologic and/or cardiac symptoms that do not respond to therapy, even if a treatment can improve serum biochemical markers of disease.

Using genetic, biochemical, and electrophysiologic techniques in cells, model organisms, and human subjects, we investigate the mechanisms that drive neurologic and cardiac dysfunction in patients with IEMs. We also evaluate the efficacy of a number of new therapeutic strategies for IEM (including small-molecule, network-directed, and gene therapies).

We hypothesize that genetic defects in biochemical pathways alter the development and evolution of electrical circuits in excitable tissues. To improve outcomes in patients with IEMs, therapies will have to correct both the biochemical defect and the secondary circuit-level pathology that directly drives patients’ symptoms.

Selected Publications

Ahrens-Nicklas, R.C., Tecedor, L., Hall, A.H., Lysenko, E., Cohen, A.S., Davidson, B.L., Marsh, E.D.: Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder. JCI insight 4(21): e131961, Nov 2019.

Ahrens-Nicklas, R.C., Pappas, C.T., Farman, G.P., Mayfield, R.M., Larrinaga, T.M., Medne, L., Ritter, A., Krantz, I.D., Murali, C., Lin, K.Y., Berger, J.H., Yum, S.W., Carreon, C.K., Gregorio, C.C.: Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy. Sci Adv 5(9): eaax2066, Sep 2019.

Ritter, A., Cuddapah, S., Degenhardt, K., Kaspersky, S., Johnson, M.P., O'Connor, M.J., Ahrens-Nicklas, R.C.: Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature. Am J Med Genet A 179(6): 1042-1046, Jun 2019.

Schlotawa, L., Adang, L., DeCastro, M., Ahrens-Nicklas, R. : Multiple Sulfatase Deficiency. GeneReviews. Adam, M.P., Arranger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Stephens, K., Amemiya, A. (eds.). University of Washington, Mar 2019.

Ahrens-Nicklas, R.C., Ganetzky, R.D., Rush, P.W., Conway, R.L., Ficicioglu, C.: Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. J Inherit Metab Dis 42(1): 140-146, Jan 2019.

Yun, S., Reynolds, R. P., Petrof, I., White, A., Rivera, P. D., Segev, A., Gibson, A. D., Suarez, M., DeSalle, M. J., Ito, N., Mukherjee, S., Richardson, D. R., Kang, C. E., Ahrens-Nicklas, R. C., Soler, I., Chetkovich, D. M., Kourrich, S., Coulter, D. A., Eisch, A. J.: Stimulation of entorhinal cortex-dentate gyrus circuitry is antidepressive. Nat Med 24(5): 658-666, May 2018.

Ahrens-Nicklas, R., Schlotawa, L., Ballabio, A., Brunetti-Pierri, N., De Castro, M., Dierks, T., Eichler, F., Ficicioglu, C., Finglas, A., Gaertner, J., Kirmse, B., Klepper, J., Lee, M., Olsen, A., Parenti, G., Vossough, A., Vanderver, A., Adang, L. A.: Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab 123(3): 337-346, Mar 2018.

Ahrens-Nicklas, R. C., Umanah, G. K., Sondheimer, N., Deardorff, M. A., Wilkens, A. B., Conlin, L. K., Santani, A. B., Nesbitt, A., Juulsola, J., Ma, E., Dawson, T. M., Dawson, V. L., Marsh, E. D.: Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurol Genet 3(1): e130, Feb 2017.

Ahrens-Nicklas, R. C., Whitaker, A. M., Kaplan, P., Cuddapah, S., Burfield, J., Blair, J., Brochi, L., Yudkoff, M., Ficicioglu, C.: Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience. Genet Med 19(8): 926-935, Aug 2017.

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Last updated: 05/04/2021
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