Grant: Project Grant
Research Institute of the McGill University Health Centre
$229,351.00
Next generation sequencing for the discovery of inborn errors of cobalamin metabolism
EF 2015-16
Résumé
The theme of our work is the use of carefully collected clinical samples for the genetic and biochemical characterization of human inherited disease involving the vitamins folic acid and vitamin B12. Along with collaborators from around the world, we have identified genes essential for the intracellular handling of these vitamins. We propose to use next generation sequencing technology to make rapid discoveries. This has been immediately useful for the diagnosis of disease, carrier detection and prenatal diagnosis.
Programme
Project Grant
Emplacement
Quebec, Canada
Type
Grant
Source
CIHR Funding Decisions Database
Tel que publié
Id
342043
Name
Rosenblatt David S
Region
Québec
Country
Canada
Orgtype
Institution Paid; Research Institution
Instname2
Genetics
Theme2
Biomedical
Prcname2
Project Grant Competition
Projecttitle
Next generation sequencing for the discovery of inborn errors of cobalamin metabolism
Programtype2
Operating Grants
Orgnameinp2
Research Institute of the McGill University Health Centre
Cihramount2
$229,351
Cihrequipment2
$0
Programname2
Project Grant
Keyworddelim
Cobalamin; Folate; Genetics; Homocysteine; Methylmalonic Acid; Vitamin B12
Abstract
The theme of our work is the use of carefully collected clinical samples for the genetic and biochemical characterization of human inherited disease involving the vitamins folic acid and vitamin B12. Along with collaborators from around the world, we have identified genes essential for the intracellular handling of these vitamins. We propose to use next generation sequencing technology to make rapid discoveries. This has been immediately useful for the diagnosis of disease, carrier detection and prenatal diagnosis.
Competitiondate
201603
Approvedterm2
3 yrs 0 mth
Pinamesdelim
Rosenblatt, David S
Approvedterm
3 ans 0 mois
Cihrcontribution2
~ $229,351~ $0~
