Grant: Operating Grant
McGill University
$979,000.00
Inborn errors of cobalamin and folate metabolism
FY 2008-09
Summary
The overall theme of my research is the use of carefully collected clinical samples for the genetic and biochemical characterization of human inherited diseases involving two critical vitamins, folic acid and vitamin B12. With collaborators from around the world, we have identified all the known genes responsible for the inherited disorders of vitamin B12 metabolism and have discovered new steps in the pathway. We are in the process of characterizing the function of the products of these genes, constructing mouse models, and studying possible therapeutic approaches.
Department
Program
Operating Grant
Recipient
Location
Quebec, Canada
Recipient Type
Academia
Type
Grant
Source
CIHR Funding Decisions Database
As published
Id
179166
Name
Rosenblatt David S
Region
Québec
Country
Canada
Orgtype
Institution Paid; Research Institution
Instname2
Genetics
Theme2
Biomedical
Prcname2
Genetics
Projecttitle
Inborn errors of cobalamin and folate metabolism
Programtype2
Operating Grants
Orgnameinp2
McGill University
Cihramount2
$979,000
Cihrequipment2
$0
Programname2
Operating Grant
Keyworddelim
Cobalamin; Folate; Homocysteine; Inborn Errors Of Metabolism; Methylmalonic Acid
Abstract
The overall theme of my research is the use of carefully collected clinical samples for the genetic and biochemical characterization of human inherited diseases involving two critical vitamins, folic acid and vitamin B12. With collaborators from around the world, we have identified all the known genes responsible for the inherited disorders of vitamin B12 metabolism and have discovered new steps in the pathway. We are in the process of characterizing the function of the products of these genes, constructing mouse models, and studying possible therapeutic approaches.
Competitiondate
200903
Approvedterm2
5 yrs 0 mth
Pinamesdelim
Rosenblatt, David S
Approvedterm
5 ans 0 mois
Cihrcontribution2
~ $979,000~ $0~