Rebecca Ahrens-Nicklas, MD, PhD

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Rebecca Ahrens-Nicklas, MD, PhD, is a senior research scientist and attending physician with the Metabolic Disease Program and the Division of Human Genetics at Children’s Hospital of Philadelphia.

Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - Weill Cornell Medical College, New York, NY

Residency

Pediatrics and Medical Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA

Fellowship

Medical Biochemical Genetics - Children’s Hospital of Philadelphia, Philadelphia, PA

Board Certification

Biochemical Genetics
Clinical Genetics
Pediatrics

Graduate Degree

PhD in Physiology & Biophysics - Weill Cornell Medical College, New York, NY

Titles and Academic Titles

Attending Physician

Senior Research Scientist

Departments and Services

Publications

Papers

2018

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. 2018. In Press. *Authors contributed equally

Yun S., Reynolds R.P., Petrof I., White A., Rivera P.D., Segev A., Gibson A.D., Suarez M., Desalle M.J., Ito N., Mukhergee 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 enthorhinal cortex-dentate gyrus circuitry is antidepressive. Nat Med. 2018. 24(658-666).

Ahrens-Nicklas R.C.*, 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 patients with Multiple Sulfatase Deficiency: Clinical cases and guidelines consensus statement. Mol Gen Metab. 2018. 123(337-346). *Authors contributed equally

2017

Ahrens-Nicklas R.C., Umanah G., Sondheimer N., Deardorff M., Wilkens A., Conlin L., Santani A., Nesbitt A., Juusola,J, Ma E., Dawson T., Dawson V., Marsh E. Precision therapy for a new disorder of AMPA-receptor recycling.  Neurol Genet. 2017. 3(e130).

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 sixteen-year experience. Genet Med. 2017. 19(926-935).

Bhoj E.J, Yu Z., Guan Q., Ahrens-Nicklas, R.C., Cao K., Tischler T., Deardorff M., Zackai E., Stolle C.,  Santani A. Phenotypic Predictors and Final Diagnoses in Patients Referred for RASopathy Testing by Targeted Next-Generation Sequencing. Genet Med. 2017. 19(715-718)

2016

Ahrens-Nicklas R.C., Khan S., Garbarini J., Woyciechowski S., D’Alessandro L, Zackai E.H., Deardorff M.A., Goldmuntz E. Utility of Genetic Evaluation in Infants with Congenital Heart Defects Admitted to the Cardiac Intensive Care Unit. Am J Med Genet. 2016. 170A(3090-3097).

Ahrens-Nicklas R.C., Pyle L., Ficicioglu C. Morbidity and Mortality Among Exclusively Breastfed Neonates with Medium Chain Acyl-CoA Dehydrogenase Deficiency. Genet Med. 2016. 18(1315-1319).

Ganetzky R.D., Bloom K., Ahrens-Nicklas R.C., Edmondson A., Deardorff M.A., Bennett M.J., Ficicioglu C. ECHS1 deficiency as a cause of severe neonatal lactic acidosis. JIMD Reports. 2016. 30(33-37).

2015

Ahrens-Nicklas R.C., Reichert S.L., Zackai E.H.Z., Kaplan P.B. Atypical Williams Syndrome in an infant with complete atrioventricular canal defect. Am J Med Genet. 2015. 167(3108-12).

Ahrens-Nicklas R.C., Serdaroglu E., Muraresku C., Ficicioglu C. Cobalamin C disease missed by newborn screening in a patient with a low carnitine level. JIMD Reports. 2015. 23(71-75).

Bhoj E.J., Li M., Ahrens-Nicklas R.C., Pyle L, Wang J., Zhang V., Clarke C., Wong L.J., Sondheimer N., Ficicioglu C., Yudkoff M. Pathologic variants of the mitochondrial phosphate carrier SLC25A3: two new patients and expansion of the cardiomyopathy/skeletal myopathy phenotype with and without lactic acidosis. JIMD Reports. 2015. 19(59-66).

2011

Perez C.A., Stanley S.A., Wysocki R.W., Havranova J., Ahrens-Nicklas R., Onyimba F., Friedman J.M. Molecular annotation of integrative feeding neural circuits. Cell Metab. 2011. 13(222-32).

2009

Ahrens-Nicklas R.C. and Christini D.J. Anthropomorphizing the mouse cardiac action potential via a novel dynamic clamp method. Biophys J. 2009. 97(2684-92).

Ahrens-Nicklas R.C., Clancy C.E. and Christini D.J.  Re-evaluating the efficacy of -adrenergic agonists and antagonists in Long QT 3 syndrome through computational modeling. Cardiovasc Res. 2009. 82(439-47).

2004

Tsui-Pierchala B., Ahrens R., Paden A., and Johnson, E. NGF promotes the survival of sympathetic neurons through the cooperative function of the PKC and PI-3-K pathways. J Biol Chem. 2004. 279(27986-93).

Pond B.B., Galeffi F., Ahrens R., and Schwartz-Bloom R. Chloride transport inhibitors influence recovery from oxygen-glucose deprivation-induced cellular injury in adult hippocampus. Neuropharm. 2004. 47(253-62).

2003

Bardgett M.E., Boeckman R., Krochmal D., Fernando H., Ahrens R., and Csernansky J.G. NMDA receptor blockade and hippocampal neuronal loss impair fear conditioning and position habit reversal in C57Bl/6 mice. Brain Res Bull. 2003. 60(131-42).

2002

Tsui-Pierchala B., Ahrens R., Crowder R., Milbrandt J., and Johnson, E. The long and short isoforms of Ret function as independent signaling complexes. 2002. J Biol Chem. 2002. 277(34618-25).

Sah R., Galeffi F., Ahrens R., Jordan G. and Schwartz-Bloom R. Modulation of the GABAA –gated chloride channel by reactive oxygen species.  J Neurochem. 2002. 80(383-91).

Abstracts

2017

Ahrens-Nicklas R.C., Tecedor L., Banwell, E., Lysenko E., Davidson B.L., Marsh E.D. Neuronal Network Dysfunction in Juvenile Neuronal Ceroid Lipofuscinosis. Society for Neuroscience. Washington, D.C. 2017. 

Ahrens-Nicklas R.C., Henderson N., Ficicioglu C., Ortiz D., Gordon P., Ierardi-Curto L., Cuddapah S., El-Gharbawy A., Lichter-Konecki U., Sebastien J., Byers S., Dobrowolski S., Higa L.A., Vockley G., DiPerna J., Sgroi-Gaita B., Patik M. Newborn screening for Pompe disease, the Pennsylvania experience. American College of Medical Genetics. Phoenix, Arizona. 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 sixteen-year experience. American College of Medical Genetics. Phoenix, Arizona. 2017.

Ahrens-Nicklas R.C., Tecedor L., Shultz M.L., Lysenko E., Ramachandran, S., Marsh E.D., Davidson B.L. Small molecule therapies for Juvenile Neuronal Ceroid Lipofuscinosis. Lysosomal WORLD Symposium. San Diego, California. 2017.

2016

Ahrens-Nicklas R.C, Khan S., Garbarini J., Woyciechowski S., D’Alessandro L, Zackai E.H., Deardorff M.A., Goldmuntz E. Utility of Genetic Evaluation in Infants with Congenital Heart Defects Admitted to the Cardiac Intensive Care Unit. American College of Medical Genetics. Tampa, Florida. 2016.

Ahrens-Nicklas R.C., Pyle L., Ficicioglu C. Morbidity and Mortality Among Exclusively Breastfed Neonates with Medium Chain Acyl-CoA Dehydrogenase Deficiency. Society of Inherited Metabolic Disorders. Ponte Verda Beach, Florida. 2016.

2015

Ahrens-Nicklas R.C., Umanah G.K.E., Sondheimer N., Deardorff  M.A, Wilkens A.B., Santani A.B, Nesbitt A., Dawson T.M., Dawson V.L., Marsh E.D. Targeted therapy for a novel neurologic disorder identified by whole exome sequencing. American College of Medical Genetics. Salt Lake City, Utah. 2015.

Ahrens-Nicklas R.C., Ganetzky R., Ficicioglu C. Identification of Asymptomatic Glutamate Forminiotransferase Deficiency by newborn screening. Society of Inherited Metabolic Disorders. Salt Lake City, Utah. 2015.

Books

Chapters

2013

Bhoj E.J, Ahrens-Nicklas R.C, Wenger T. “Genetics” in The Philadephia Guide to Inpatient Pediatrics, 2nd ed. Gary Frank, Samir S. Shah, Marina Catallozzi Eds. Philadelphia, PA:  Lippincott Williams & Wilkins, 2013.

Posters and Presentations

Invited Lectures

2018

Ahrens-Nicklas RC. “Mechanisms of Network Dysfunction in Juvenile Neuronal Ceroid Lipofuscinosis”- Lysosomal WORLD Symposium 2018.

2017

Ahrens-Nicklas RC. “Searching for potential repurposed therapies in multiple sulfatase deficiency”- MSD Action Foundation Conference. 2017

Awards and Honors

2018, Lysosomal WORLD Symposium Travel Award

2017, Richard King Award for Best Publication in Genetics in Medicine by a Trainee

2017, Supplemental Support Grant for Neuroscience Research, Children’s Hospital of Philadelphia

2016, Children’s Hospital of Philadelphia Research Day Award

2015, Alavi-Dabiri Fellowship Award

2011, The Mitchell Spivak Memorial Prize in Pediatrics, Weill Cornell Medical College

2011, American Medical Women’s Association Janet M. Glasgow Memorial Achievement Citation

2008-2011, National Institutes of Health (NHLBI) F30 Predoctoral Fellowship

2008-2009, Vincent DuVigneaud Research Symposium Award of Excellence

2006, Alpha Omega Alpha, Weill Cornell Medical College

2003, Phi Beta Kappa, Duke University

2003, Sigma Xi, Duke University

2003, Howard Hughes Research Forum Fellow, Duke University

2002, Barry M. Goldwater Scholarship

Leadership and Memberships

Memberships in Professional Organizations

2017-present, American Academy of Neurology
2014-present, American College of Medical Genetics and Genomics
2014-present, Society for the Study of Inborn Errors of Metabolism
2014-present, Society of Inborn Metabolic Disorders