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Staff Profile: Petra Kaufmann

Petra Kaufmann, M.D., M.Sc.


Office of Rare Diseases Research

National Center for Advancing Translational Sciences

National Institutes of Health

E-mail Petra Kaufmann


Petra Kaufmann is director of the NCATS Office of Rare Diseases Research. Her work includes overseeing the Rare Diseases Clinical Research Network program, Genetic and Rare Diseases Information Center, and the NCATS Toolkit for Patient-Focused Therapy Development. Kaufmann focuses on engaging a broad range of rare diseases research stakeholders to accelerate translation from discovery to health benefits through use of innovative methods and tools.

Before joining NCATS, Kaufmann was the director of the Office of Clinical Research at the National Institute of Neurological Disorders and Stroke (NINDS), where she worked with investigators to plan and execute a large portfolio of clinical research studies and trials in neurological disorders, including many in rare diseases. She established NeuroNEXT, a trial network for Phase II trials using a central institutional review board, streamlined contracting, active patient participation in all project phases, and a scientific and legal framework for partnership with industry. Kaufmann also promoted data sharing, working with multiple stakeholders from the academic, patient organization and industry sectors to develop data standards for more than 10 neurological diseases.

A native of Germany, Kaufmann earned her M.D. from the University of Bonn and her M.Sc. in biostatistics from Columbia University’s Mailman School of Public Health. She completed an internship in medicine at St. Luke’s/Roosevelt (now part of Mt. Sinai) in New York City, training in neurology and clinical neurophysiology at Columbia University, and a postdoctoral fellowship in the molecular biology of mitochondrial diseases at Columbia’s H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases. Before joining NINDS, Kaufmann was a tenured associate professor of neurology at Columbia, where she worked as a researcher and clinician in the neuromuscular division, the electromyography laboratories and the pediatric neuromuscular clinic.

She has served on scientific advisory committees for many rare disease organizations and is a member of the American Academy of Neurology Science Committee, the International Rare Disease Research Consortium Interdisciplinary Scientific Committee and the Clinical Trial Transformation Initiative Steering Committee.

Kaufmann is board certified in neurology, neuromuscular medicine and electrodiagnostic medicine. She currently sees patients in the Muscular Dystrophy Association Clinic at Children’s National Medical Center in Washington, D.C.

Research Topics

Kaufmann’s research focus is on the clinical investigation of rare diseases, such as spinal muscular atrophy, amyotrophic lateral sclerosis and mitochondrial diseases.

Selected Publications

  1. The changing natural history of spinal muscular atrophy type 1.
  2. Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase III.
  3. Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.
  4. Prospective cohort study of spinal muscular atrophy types 2 and 3.
  5. The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.