Dominique C. Pichard, M.D., M.S.
Director
Division of Rare Diseases Research Innovation
Contact Info
Biography
Dominique C. Pichard, M.D., M.S., is the director of NCATS’ Division of Rare Diseases Research Innovation, where she leads rare disease research efforts. In this capacity, she also collaborates with other divisions and offices across NCATS and, more broadly, with other NIH institutes and centers regarding rare diseases research. Before joining NCATS in September 2023, Pichard was the chief science officer at the International Rett Syndrome Foundation — the largest patient advocacy and research foundation for Rett syndrome in the United States. Rett syndrome is a rare genetic neurological disorder that affects 1 in 10,000 females (and even fewer males) and leads to severe impairments affecting nearly every aspect of life, including speaking, walking, eating and the ability to breathe easily. In her capacity at the International Rett Syndrome Foundation, Pichard engaged in patient advocacy and created several initiatives to improve translational research in Rett syndrome, providing the grounds for successful drug development. Prior to her tenure at the International Rett Syndrome Foundation, Pichard was a clinical researcher at the National Cancer Institute and the National Institute of Arthritis and Musculoskeletal and Skin Diseases, where she studied many different rare diseases and gained expertise in rare disease clinical trial development.
In addition to her work in rare disease research, Pichard is mother to a daughter who lives with Rett syndrome, so she has a deep understanding of the many challenges associated with having a rare disease, including the diagnostic odyssey, the lack of treatments and the many untreated medical complications related to the disease. She is passionate about improving the system for all those affected by rare diseases, which aligns with NCATS’ vision of bringing more treatments to all people more quickly.
Pichard received her M.D. from Georgetown University School of Medicine and her M.S. from the University of Maryland School of Medicine.
Research Topics
Pichard’s research interests focus on rare disease phenotyping, management, clinical trial readiness and clinical trial design.
Selected Publications
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Anakinra for Refractory Pustular Psoriasis: A Phase II, Open-Label, Dose-Escalation Trial
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The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort
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Selumetinib in Children With Inoperable Plexiform Neurofibromas
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Impact of the 2014 NIH Chronic Graft-Versus-Host Disease Scoring Criteria Modifications Assessed in a Large Cohort of Severely Affected Patients
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Clinical Trial Design for Cutaneous Neurofibromas