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6 539 (0,147s) •

Project

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

and molecular basis of chronic kidney diseases (CKD). The project is based ? in agreement with currently accepted common disease-rare variants hypothesis ? on systematic identification of rar...

EB - Genetika a molekulární biologie

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

Functional assessment of genetic variants in clinically “true” cases of idiopathic ventricular fibrillation in vitro and in silico modelling to reveal the arrhythmogenic mechanism (NU22-02-00348)

Genetic predisposition for the sudden cardiac death (SCD), a common cause of death in patients with cardiovascular diseases, has been proved by population studies. The hypothesis “common disease – rare...

Cardiac and Cardiovascular systems

  • 2022 - 2025
    • •
  • 14 750 tis. Kč
    • •
  • 14 750 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 variants; and4. Characterization of molecular causes...

Genetics and heredity (medical genetics to be 3)

  • 2025 - 2028
    • •
  • 9 493 tis. Kč
    • •
  • 9 493 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 of common Czech benign population variants will be assembled. Analyses of gene panels. Variants will be evaluated using...

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)

-out of common polymorphism, two types of variants: 1) clinically usable variants to the understanding of the effects of these rare variants); and 2) variants of unclearThe genetic basis of autism...

EB - Genetika a molekulární biologie

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

Human genetics

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

Analysis of molecular basis of red cell antigens with respect to prenatal diagnostic of haemolytic disease of the newborn and to solving of transfusion-related problems (NM5952)

Analysis of molecular basis of red cell antigens expression i our population and detailed study of rare and variant antigens with the aim to bring informations useful for clinical implementation of the DNA-based diagnostics. We expe...

FP - Ostatní lékařské obory

  • 2000 - 2002
    • •
  • 1 883 tis. Kč
    • •
  • 1 843 tis. Kč
    • •
  • MZ
Project

The role of pathogenic genetic variants identified by exome sequencing in the etiology of pediatric neurodevelopmental disorders (NU20-07-00145)

This proposal project accomplishes aims of the programme "Diseases of children's age and rare diseases" and agrees with the priorities of a particular aim "Diseases arising in prenatal period, perinatal period and ...

Genetics and heredity (medical genetics to be 3)

  • 2020 - 2023
    • •
  • 9 383 tis. Kč
    • •
  • 9 383 tis. Kč
    • •
  • MZ
Project

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

(FHMs), including rare diseases such as AML, MDS, ALL, and MPN, focusing on genes-specific, and as FHMs are rare disorders, progress in identifying risk variants has of variants in genes associated with f...

Genetics and heredity (medical genetics to be 3)

  • 2025 - 2028
    • •
  • 18 916 tis. Kč
    • •
  • 18 916 tis. Kč
    • •
  • MZ
Project

Characterization of the molecular basis of rare genetic diseases of pediatric onset using new methods of genome analysis (NV15-28208A)

Rare diseases comprise a group of more than 8000 disorders. Seventy-five per cent of rare diseases affect children, and about 30% of them die before the age diagnosis and etiology of the disorder in a group of ~ 10...

EB - Genetika a molekulární biologie

  • 2015 - 2018
    • •
  • 16 034 tis. Kč
    • •
  • 16 034 tis. Kč
    • •
  • MZ
  • 1 - 10 out of 6 539