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3 936 (0,343s) •

Project

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

of these disorders and of the role of candidate genes (iii) specify and improve the genetic of children's age and rare diseases" and agrees with the priorities of a particular aim with severe neurodevelopmental disorde...

Genetics and heredity (medical genetics to be 3)

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

Identification of the genetic and molecular basis of rare genetic disorders using novel genomic methods. (NT13116)

The project is aimed at identification and characterization of the genetic and molecular basis of rare genetic disorders of unknown etiology. In the project already available DNA samples, body fluids, tissue biopsi...

EB - Genetika a molekulární biologie

  • 2012 - 2015
    • •
  • 7 888 tis. Kč
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  • 7 888 tis. Kč
    • •
  • MZ
Project

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

diagnosis and etiology of the disorder in a group of ~ 100 children with rare geneticRare diseases comprise a group of more than 8000 disorders. Seventy-five per cent of rare diseases affect chil...

EB - Genetika a molekulární biologie

  • 2015 - 2018
    • •
  • 16 034 tis. Kč
    • •
  • 16 034 tis. Kč
    • •
  • MZ
Project

Identification and characterization of genetic factors and pathogenetic mechanism of defects affecting de novo purine metabolism (NU23-01-00500)

of this study is to identify both known and novel rare genetic disorders affecting purine rare but also common disorders associated with alterations in purine metabolism. compounds providing energy to the...

Biochemistry and molecular biology

  • 2023 - 2026
    • •
  • 9 637 tis. Kč
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  • 9 637 tis. Kč
    • •
  • MZ
Project

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

From the genetics perspective intellectual disability and autism spectrum disorders are a large heterogeneous group of rare diseases. Exomes will be sequenced in about 100 families with sporadic or familial occurrence of af...

EB - Genetika a molekulární biologie

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

Mitochondrial disorders with instability of mitochondrial DNA (NV17-30965A)

Mitochondrial disorders (MD) with estimated incidence 1:4000 are caused by disturbances of oxidative phosphorylation system (OXPHOS) and represent genetically and mortality. OXPHOS biogenesis is under dual genetic control, ...

EB - Genetika a molekulární biologie

  • 2017 - 2021
    • •
  • 13 003 tis. Kč
    • •
  • 12 960 tis. Kč
    • •
  • MZ
Project

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

Neurodevelopmental disorders include developmental delay, intellectual disability, behavioural disorders with autism spectrum disorders etc. They are a large group of rare diseases caused by defects in thousands ge...

Human genetics

  • 2022 - 2025
    • •
  • 13 502 tis. Kč
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  • 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, Department of Paediatrics and Inherited Metabolic Disord...

Genetics and heredity (medical genetics to be 3)

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

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

The genetic basis of autism is best described by the model of multiple rare variants of strong effect. The goal of the project is to identify these defects. About 100 selected unrelated patients will be tested for microdeletions to ...

EB - Genetika a molekulární biologie

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

RAre DIsorders of SUlfur amino acid Metabolism deep phenotyping and development of novel diagnostic approaches (RADISUM) (NU23-07-00383)

Rare disorders (RD) comprise a clinically and etiologically diverse group homocystinuria. Individual disorders have been discovered since the 1960s. As in other rare disorders, knowledge of epidemiology, m...

Human genetics

  • 2023 - 2026
    • •
  • 12 446 tis. Kč
    • •
  • 12 446 tis. Kč
    • •
  • MZ
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