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Staff Clinician

NIH Undiagnosed Diseases Program


M.D. Université de Sherbrooke, Québec, Canada


Dr. Rossignol attended medical school at the Université de Sherbrooke (2009-2013). He completed his residency in Medical Genetics and Genomics from the Université de Montréal (2013-2018); fellowship in Medical Biochemical Genetics (2018-2019) and Clinical Biochemical Genetics (2019-2020), from the National Human Genome Research Institute (NHGRI). In 2020, he joined as a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl. Since 2021, Dr. Rossignol has been teaching the Inborn Errors of Metabolism course offered by the Foundation for Advanced Education in the Sciences, for the Biochemical Genetics Training Program, at NHGRI.

Scientific Summary

Dr. Rossignol’s research focuses on rare inherited metabolic disorders: their natural history and clinical trials. He is a principal investigator for the GNE myopathy studies; a co-principal investigator for a multicenter clinical trial of ManNAc (a precursor of sialic acid) in GNE myopathy; and an associate investigator in the alkaptonuria study. He is also involved with the Undiagnosed Diseases Program where he evaluates patients with manifestations of unknown etiology and collaborates with scientists to identify new conditions or expand the phenotypic description of known conditions.


Rossignol F, Duarte Moreno MS, Benoist JF, Boehm M, Bourrat E, Cano A, et al. Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. Genet Med. 2021 Sep;23(9):1604-1615.

Rossignol F, Wang H, Ferreira C. Prolidase deficiency. 2015 Jun 25 [updated 2022 Jul 7]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.

Xiao C, Rossignol F, Vaz FM, Ferreira CR. Inherited disorders of complex lipid metabolism: A clinical review. J Inherit Metab Dis. 2021 Jul;44(4):809-825.

Last updated: November 8, 2023