Breadcrumb

null David Rosenblatt, MDCM

Senior Scientist, RI-MUHC, Glen site

Child Health and Human Development Program

Centre for Translational Biology

Professor, Department of Human Genetics, Faculty of Medicine, McGill University

Department of Medicine, Division of Genetics, MUHC

 

Keywords

vitamin B12 • folate • inborn errors • genetics • homocysteine

Research Focus

My research focuses on the study of individuals with rare inborn errors of vitamin B12 and folate metabolism. Using cultured fibroblasts from pateints with these disorders, my group has been able to work out the metabolic pathway and to discover novel genes.

Selected Publications

Click on Pubmed to see my current publications list

  • Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayak J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Past-inen T, Montpetit A, Hariri F, Tregouët D, Raby B, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorine Y, Bonne-mains C, Feillet F, Majewski J, Rosenblatt DS. A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nature Comm 9:67, 2018. PMID: 29302025.

  • Abdrabo LS, Watkins D, Wang SR, Lafond-Lapalme J, Riviere JB, Rosenblatt DS. Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause. Genetics in Medecine 22:432-436, 2020. PMID: 31462756.

  • Bidla G, Watkins D, Chéry C, Froese DS, Ells C, Kerachian M, Saskin A, Christensen KE, Gilfix BM, Guéant JL, Rosenblatt DS. Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency. Mol Genet Metab 130:179-182, 2020. PMID: 32414565.

  • Sorin M, Watkins D, Gilfix BG, Rosenblatt DS. Methionine dependence in tumor cells: the potential role of cobalamin and MMACHC. Mol Genet Metab 132:155-161, 2021. PMID: 33487542.

  • Chern T, Achilleos A, Tong X, Hill MC, Saltzman AB, Reineke LC, Chaudhury A, Dasgupta SK, Redhead Y, Watkins D, Neilson JR, Thiagarajam P, Green JBA, Malo-vannaya A, Martin JF, Rosenblatt DS, Poché RA. Mutations in Hcfc1 and Ronin re-sult in both an inborn error of cobalamin metabolism and a ribosomopathy. Nature Comm doi:10.1038/s41467-021-27759-7 2022. PMID: 35013307.