Grant: Emerging Team Grant: Rare Diseases - Basic/Clinical
Centre hospitalier de l'Université de Montréal (CHUM)
$2,498,718.00
Emerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes.
FY 2011-12
Summary
Hereditary spastic paraplegias (HSPs) are rare neurological disorders with onset anywhere from early childhood to later adulthood, which are caused by the transmission of specific mutated genes. HSPs represent the second most important group of the motor neuron diseases. There are no treatments to prevent, stop, or reverse HSP. Identifying novel HSP genes and characterizing these, as well as the previously identified HSP genes, is needed to provide insights into pathogenesis, a bit like adding pieces to a puzzle allows us to progressively get a clearer understanding of the overall picture. We will create an HSP clinical registry/genomic DNA bank and standardize diagnostic procedures. We will validate a molecular diagnostic test and work to identify novel HSPs causative genes. The impact of mutations in these novel genes will be measured in simple model organism (worm, flies and zebrafish) and cellular models. Finally we will test FDA-approved drugs to screen for efficacy in known and prioritized novel HSP genes.
Department
Program
Emerging Team Grant: Rare Diseases - Basic/Clinical
Location
Quebec, Canada
Recipient Type
Not-for-profit organization or charity
Type
Grant
Source
CIHR Funding Decisions Database
As published
Id
247574
Name
Rouleau Guy A
Region
Québec
Country
Canada
Orgtype
Institution Paid; Research Institution
Instname2
Genetics
Theme2
Biomedical
Prcname2
Emerging Team Grant: Rare Diseases
Projecttitle
Emerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes.
Programtype2
Operating Grants
Orgnameinp2
Centre hospitalier de l'Université de Montréal (CHUM)
Cihramount2
$2,498,718
Cihrequipment2
$0
Programname2
Emerging Team Grant: Rare Diseases - Basic/Clinical
Keyworddelim
Drug Screening; Exome Sequencing; Functional Studies; Gene Identification; Genetic Testing; Hereditary Spastic Paraplegia; Mutation Detection; Standardisation Of Diagnosis
Abstract
Hereditary spastic paraplegias (HSPs) are rare neurological disorders with onset anywhere from early childhood to later adulthood, which are caused by the transmission of specific mutated genes. HSPs represent the second most important group of the motor neuron diseases. There are no treatments to prevent, stop, or reverse HSP. Identifying novel HSP genes and characterizing these, as well as the previously identified HSP genes, is needed to provide insights into pathogenesis, a bit like adding pieces to a puzzle allows us to progressively get a clearer understanding of the overall picture. We will create an HSP clinical registry/genomic DNA bank and standardize diagnostic procedures. We will validate a molecular diagnostic test and work to identify novel HSPs causative genes. The impact of mutations in these novel genes will be measured in simple model organism (worm, flies and zebrafish) and cellular models. Finally we will test FDA-approved drugs to screen for efficacy in known and prioritized novel HSP genes.
Competitiondate
201108
Approvedterm2
5 yrs 0 mth
Pinamesdelim
Rouleau, Guy A
Approvedterm
5 ans 0 mois
Cihrcontribution2
Institute of Genetics~ $2,498,718~ $0~
