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7E09041

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