In This Section

Rebecca C. Ahrens-Nicklas, MD, PhD
Rebecca C. Ahrens-Nicklas, MD, PhD
Assistant Professor of Pediatrics

Dr. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.



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For most inborn errors of metabolism (IEM), it is not known how the biochemical defect leads to neurologic symptoms. Yet, patients often have significant, untreatable central nervous system (CNS) disease. Dr. Ahrens-Nicklas and her lab team aim to establish a mechanistic understanding of these disorders, in order to develop novel therapies that prevent or reverse their neurologic manifestations.

Dr. Ahrens-Nicklas and colleagues discovered that neuronal networks underlying learning and memory are disrupted very early in CLN3 disease, a progressive neurologic lysosomal storage disorder and the most common cause of pediatric dementia. Functional circuit defects arise before any lysosomal storage or cell death is detectable in the brain. The team is working on developing therapies aimed at stopping or reversing these pathologic circuit changes.  

Dr. Ahrens-Nicklas’ research also focuses on gene discovery, clinical characterization, and targeted-therapy development for rare and novel inherited disorders of the heart and brain. 

Education and Training

BS, Duke University (Pharmacology), 2003

PhD, Weill Cornell Medical College (Physiology and Biophysics), 2010

MD, Weill Cornell/Rockefeller University/Sloan-Kettering MD/PhD Program, 2011

Pediatrics Medical Genetics Residency and Medical Biochemical Genetics Fellowship, Children’s Hospital of Philadelphia, 2017

Titles and Academic Titles

Assistant Professor of Pediatrics

Attending Physician

Professional Memberships

American Academy of Neurology, 2017-

American College of Medical Genetics and Genomics, 2014-

Society for the Study of Inborn Errors of Metabolism, 2014-

Society of Inborn Metabolic Disorders, 2014-

Publication Highlights

Ahrens-Nicklas RC, Tecedor L, Hall AF, Lysenko E, Cohen AS, Davidson BL, Marsh ED. Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder. JCI Insight. 2019 Nov; 4(21). PubMed PMID: 31573978
Ritter A, Bedoukian E, Berger JH, Copenheaver D, Gray C, Krantz I, Izumi K, Juusola J, Leonard J, Lin K, Medne L, Santani A, Skraban C, Yang S, Ahrens-Nicklas RC. Clinical utility of exome sequencing in infantile heart failure. Genet Med. 2019 Sep; (Epub ahead of print). PubMed PMID: 31527676
Ahrens-Nicklas RC, Pappas CT, Farman GP, Mayfield RM, Larrinaga TM, Medne L, Ritter A, Krantz ID, Murali C, Lin KY, Berger JH, Yum SW, Carreon CK, Gregorio CC. Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy. Sci Adv. 2019 Sep; 5(9):eaax2066. PubMed PMID: 31517052
Ahrens-Nicklas RC, 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 LA. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab. 2018 Mar; 123(3):337-346. PubMed PMID: 29397290
Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED. Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. Neurol Genet. 2017 Feb; 3(1):e130. PubMed PMID: 28180185