Improving Diagnoses of Mental Retardation in Children in Eastern Europe and Central Asia through Genetic Characterisation and Bioinformatics/Statistics
Project goals
Mental retardation (MR) is a highly heterogeneous disorder and is of genetic origin in about 50% of the cases. Despite recent progress in research the causes and the pathophysiology of MR remains obscure. It is essential to investigate this in order to develop future diagnostic and therapeutic strategies. The overall goal of this proposal is to establish an interdisciplinary Eastern Europe and Central Asia (EECA) consortium of experts with a joint programme of activities to generate knowledge about MR and the structure and dynamics of the brain as such. This project will be the first to study in depth the prevalence and incidence of MR in EECA. The objectives of the CHERISH project are to: - develop a standardized approach for MR diagnosis through clinical workshops and courses; - create a large data-base of patients with clinically well defined MR, both syndromic and non-syndromic; - identify cryptic genomic rearrangements through molecular cytogenetic analysis; - sequence MR genes and analyse the m
Keywords
Mental retardationEastern EuropeCentral AsiaGeneticsGenomicsChildrenAdolescence
Public support
Provider
Ministry of Education, Youth and Sports
Programme
—
Call for proposals
FP7-Health-2009-two-stage
Main participants
—
Contest type
RP - Co-financing of EC programme
Contract ID
1086/2011-321
Alternative language
Project name in Czech
Improving Diagnoses of Mental Retardation in Children in Eastern Europe and Central Asia through Genetic Characterisation and Bioinformatics/Statistics
Annotation in Czech
Mental retardation (MR) is a highly heterogeneous disorder and is of genetic origin in about 50% of the cases. Despite recent progress in research the causes and the pathophysiology of MR remains obscure. It is essential to investigate this in order to develop future diagnostic and therapeutic strategies. The overall goal of this proposal is to establish an interdisciplinary Eastern Europe and Central Asia (EECA) consortium of experts with a joint programme of activities to generate knowledge about MR and the structure and dynamics of the brain as such. This project will be the first to study in depth the prevalence and incidence of MR in EECA. The objectives of the CHERISH project are to: - develop a standardized approach for MR diagnosis through clinical workshops and courses; - create a large data-base of patients with clinically well defined MR, both syndromic and non-syndromic; - identify cryptic genomic rearrangements through molecular cytogenetic analysis; - sequence MR genes and analyse the m
Scientific branches
R&D category
ZV - Basic research
CEP classification - main branch
EB - Genetics and molecular biology
CEP - secondary branch
FP - Other medical fields
CEP - another secondary branch
FG - Paediatrics
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
30106 - Anatomy and morphology (plant science to be 1.6)
30107 - Medicinal chemistry
30108 - Toxicology
30109 - Pathology
30209 - Paediatrics
30221 - Critical care medicine and Emergency medicine
30223 - Anaesthesiology
30224 - Radiology, nuclear medicine and medical imaging
30225 - Allergy
30226 - Rheumatology
30227 - Geriatrics and gerontology
30229 - Integrative and complementary medicine (alternative practice systems)
30230 - Other clinical medicine subjects
30307 - Nursing
30308 - Nutrition, Dietetics
30309 - Tropical medicine
30310 - Parasitology
30311 - Medical ethics
30312 - Substance abuse
30501 - Forensic science
30502 - Other medical science
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
Feb 1, 2009
Realization period - end
Jan 31, 2012
Project status
U - Finished project
Latest support payment
Mar 10, 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
1,435 thou. CZK
Public financial support
1,435 thou. CZK
Other public sources
0 thou. CZK
Non public and foreign sources
0 thou. CZK
Basic information
Recognised costs
1 435 CZK thou.
Public support
1 435 CZK thou.
100%
Provider
Ministry of Education, Youth and Sports
CEP
EB - Genetics and molecular biology
Solution period
01. 02. 2009 - 31. 01. 2012