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1 224 (0,094s) •

Project

Role of rare variants in genetic predisposition to statin myopathy (NT14025)

The project objective is to determine the contribution of rare gene variants in SLCO1B1, SLCO1B3, and other known or unknown candidate genes to the mechanism of statin-induced myopathy. The presence of variants in approxima...

FA - Kardiovaskulární nemoci včetně kardiochirurgie

  • 2013 - 2015
    • •
  • 5 865 tis. Kč
    • •
  • 5 865 tis. Kč
    • •
  • MZ
Project

Study of etiological significance of rare sequence variants and intragenic rearrangements in BRCA1&2 genes in the patients with hereditary breast and ovarian cancer (NR8213)

Probability estimation of the causality of rare sequence variants detected in BRCA1 and BRCA2 genes in the patients with hereditary breast and/or ovarian cancer syndrome will be estimated. Investigation of intragenic rearrangements ...

FD - Onkologie a hematologie

  • 2004 - 2006
    • •
  • 3 953 tis. Kč
    • •
  • 3 671 tis. Kč
    • •
  • MZ
Project

IDENTIFICATION AND CHARACTERIZATION OF GENETIC FACTORS CONTRIBUTING TO CHRONIC KIDNEY DISEASE (LH12015)

with currently accepted common disease-rare variants hypothesis ? on systematic identification of rare genetic variants in families and simplex cases with evidently of identified genetic variants on studi...

EB - Genetika a molekulární biologie

  • 2012 - 2015
    • •
  • 6 944 tis. Kč
    • •
  • 5 903 tis. Kč
    • •
  • MŠMT
Project

Analysis of genetic variants associated with intellectual disability and autism spectrum disorders using next generation sequencing (NV17-29423A)

disorders are a large heterogeneous group of rare diseases. Exomes will be sequenced. Variants will be evaluated using all inheritance models and criteria for pathogenicity. Variants in validated causal genes will be found...

EB - Genetika a molekulární biologie

  • 2017 - 2020
    • •
  • 11 653 tis. Kč
    • •
  • 11 653 tis. Kč
    • •
  • MZ
Project

Identification of genetic defects in families of patients with autism (NT14200)

to the understanding of the effects of these rare variants); and 2) variants of unclearThe genetic basis of autism is best described by the model of multiple rare variants of strong effect. The goal of th...

EB - Genetika a molekulární biologie

  • 2013 - 2015
    • •
  • 7 088 tis. Kč
    • •
  • 7 088 tis. Kč
    • •
  • MZ
Project

Improving of microclimate in the Clementinum storage rooms for rare library collections of the National Library of the Czech Republic - a pilot project of (KZ97P05UKK001)

Creation of variants for improving of microclimate in the Clementinum storage rooms for rare library collections of the National Library of the Czech Republic in consideration of contemporary professional knowledge and suppositional...

DI - Znečištění a kontrola vzduchu

  • 1997 - 1999
    • •
  • 4 989 tis. Kč
    • •
  • 4 989 tis. Kč
    • •
  • MK
Project

Identification and analysis of genes and genetic defects causing rare neurodevelopmental disorders in children (NU22-07-00165)

group of rare diseases caused by defects in thousands genes. By analysing exomes in bioinformatic procedures for detection and interpretation of variants will focus on more difficult variants and their combinations (e.g. s...

Human genetics

  • 2022 - 2025
    • •
  • 13 502 tis. Kč
    • •
  • 13 502 tis. Kč
    • •
  • MZ
Project

Genetic causes and therapy of rare hereditary amyloidoses (LUAUS25093)

extent. Project LUAUS25093 - Genetic causes and therapy of rare hereditary amyloidosis – represents a collaboration between the Research Unit For Rare Diseases of rare genetic amyloidoses. The proposal is structured into...

Genetics and heredity (medical genetics to be 3)

  • 2025 - 2028
    • •
  • 9 493 tis. Kč
    • •
  • 9 493 tis. Kč
    • •
  • MŠMT
Project

Genetic architecture of impulsive violence (GA14-21903S)

different occurrence of rare coding variants compare to general population. Evaluation of such defined genes and variants should identify spectrum of high-risk violence genes......

EB - Genetika a molekulární biologie

  • 2014 - 2018
    • •
  • 8 674 tis. Kč
    • •
  • 8 674 tis. Kč
    • •
  • GA ČR
Project

Genetic Determinants of Familial Hematologic Malignancies (NW25-03-00204)

diagnosis. MPS data bring most variants of uncertain significance (VUS), because the human genome is poorly understood. Most FHM gene variants are unique, family-specific, and as FHMs are rare disorders, progress in identi...

Genetics and heredity (medical genetics to be 3)

  • 2025 - 2028
    • •
  • 18 916 tis. Kč
    • •
  • 18 916 tis. Kč
    • •
  • MZ
  • 1 - 10 out of 1 224