Ahrens-Nicklas Laboratory

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Individuals interested in a collaboration or potential position in the lab should reach out to Rebecca at ahrensnicklasr@email.chop.edu.

Members of the Ahrens-Nicklas lab aim to identify, characterize, and develop better treatments for inherited disorders of biochemistry (i.e., inborn errors of metabolism, IEM).  

While individually rare, IEM occur in approximately one in 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.

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

Project Highlights

Current research efforts include:

  • In vivo and in vitro electrophysiologic studies working with mouse models of genetic disorders including lysosomal storage diseases and disorders of intermediary metabolism
  • Generation and characterization of new mouse models of inherited disorders through molecular, histologic, biochemical, and behavioral analysis
  • Translational therapeutic studies including investigations of small molecules, gene therapy, and network-directed therapy in cell and animal models
  • Gene discovery and follow-up functional analysis in undiagnosed patients with suspected rare genetic disorders.
Leader

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.