Technological innovation of high troughput molecular diagnostic of clinically and molecularly heterogeneous genetic disorder
Project goals
Since the sequencing of the human genome has been completed the demand for genetic analysis in the human health care system is drastically increasing, and the extension of molecular genetic diagnostics is urgently needed. However, the majority of geneticdiseases is molecularly and clinically highly heterogeneous, and until recently the available techniques lacked the required capacity to analyze several genes in parallel. The recently introduced high-throughput whole genome sequencing (WGS) technologynow offers the unique opportunity to extend molecular genetic analysis by introducing these techniques, and develop taylormade medical resequencing approaches for molecular genetic diagnosis of heterogeneous disorders. This project aims to deliver crucial innovations leading to these approaches, and to deliver a proof-of-principle for its implementation in selected model disorders. The model disorders have been selected with increasing genetic complexity, and represent the majority of non-multi
Keywords
moleculardiagnosishighthroughputwholegenomesequencingmedicalresequencinggeneticheterogeneityqualitymanagementvalidationcosteffectivenessanalysisethicalissuesdataanalysis
Public support
Provider
Ministry of Education, Youth and Sports
Programme
—
Call for proposals
FP7-HEALTH-2007-B
Main participants
—
Contest type
RP - Co-financing of EC programme
Contract ID
1087/2011-321
Alternative language
Project name in Czech
Technological innovation of high troughput molecular diagnostic of clinically and molecularly heterogeneous genetic disorder
Annotation in Czech
Since the sequencing of the human genome has been completed the demand for genetic analysis in the human health care system is drastically increasing, and the extension of molecular genetic diagnostics is urgently needed. However, the majority of geneticdiseases is molecularly and clinically highly heterogeneous, and until recently the available techniques lacked the required capacity to analyze several genes in parallel. The recently introduced high-throughput whole genome sequencing (WGS) technologynow offers the unique opportunity to extend molecular genetic analysis by introducing these techniques, and develop taylormade medical resequencing approaches for molecular genetic diagnosis of heterogeneous disorders. This project aims to deliver crucial innovations leading to these approaches, and to deliver a proof-of-principle for its implementation in selected model disorders. The model disorders have been selected with increasing genetic complexity, and represent the majority of non-multi
Scientific branches
R&D category
ZV - Basic research
CEP classification - main branch
EB - Genetics and molecular biology
CEP - secondary branch
EB - Genetics and molecular biology
CEP - another secondary branch
EB - Genetics and molecular biology
10603 - Genetics and heredity (medical genetics to be 3)
10604 - Reproductive biology (medical aspects to be 3)
10605 - Developmental biology
10608 - Biochemistry and molecular biology
10609 - Biochemical research methods
30101 - Human genetics
Completed project evaluation
Provider evaluation
U - Uspěl podle zadání (s publikovanými či patentovanými výsledky atd.)
Project results evaluation
Following the condition that the candidate of financial contribution was evaluated and afterwards selected by international provider in accordance with the rules of the program the Ministry of Education, Youth ans Sports does not realize the evaluation of project results. The project is evaluated only after its approval by an international provider.
Solution timeline
Realization period - beginning
Apr 1, 2009
Realization period - end
Feb 29, 2012
Project status
U - Finished project
Latest support payment
Mar 14, 2011
Data delivery to CEP
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data delivery code
CEP13-MSM-7E-U/01:1
Data delivery date
Jun 28, 2013
Finance
Total approved costs
171 thou. CZK
Public financial support
171 thou. CZK
Other public sources
0 thou. CZK
Non public and foreign sources
0 thou. CZK
Basic information
Recognised costs
171 CZK thou.
Public support
171 CZK thou.
100%
Provider
Ministry of Education, Youth and Sports
CEP
EB - Genetics and molecular biology
Solution period
01. 04. 2009 - 29. 02. 2012