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3 970 (0,096s) •

Project

An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research (7E13069)

Contribution to the IRDiRC objectives of delivering 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020. The development of an integrated, quality-assured and comprehensive...

FP - Ostatní lékařské obory

  • 2013 - 2018
    • •
  • 548 tis. Kč
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  • 548 tis. Kč
    • •
  • MŠMT
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
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  • 16 034 tis. Kč
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  • 16 034 tis. Kč
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  • MZ
Project

Characterization of the molecular basis of rare genetic diseases of pediatric onset using new methods of genome analysis (NV19-07-00136)

. It should ideally be applied in the diagnosis of all patients with rare diseases when of rare diseases. We will investigate a group of ~ 120 carefully phenotyped children and their families with rare

Human genetics

  • 2019 - 2022
    • •
  • 14 718 tis. Kč
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  • 14 718 tis. Kč
    • •
  • MZ
Project

Characterization of the molecular basis of rare genetic diseases of pediatric onset using new methods of genome analysis II. (NU23-07-00281)

. It should ideally be applied in the diagnosis of all patients with rare diseases when of rare diseases. We will continue the analyses of the exome data obtained so far with a rare genetic disease

Human genetics

  • 2023 - 2026
    • •
  • 14 142 tis. Kč
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  • 14 142 tis. Kč
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  • MZ
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 rare genetic variants in ...

EB - Genetika a molekulární biologie

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

Recognition and Validation of Druggable Targets from the Response to Cognitive Behaviour Therapy in Myotonic Dystrophy type 1 patients from Integrated -Omics Networks (8F19001)

IRDiRC targets. "1000 new therapies for rare diseases - molecular biomarkers for CBT, CBT life-style interventions"....

Health-related biotechnology

  • 2019 - 2021
    • •
  • 5 099 tis. Kč
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  • 5 099 tis. Kč
    • •
  • MŠMT
Project

The application of new methods of genomic analysis in cases of rare genetic based diseases with negative results of genetic and genomic analyses. (NV19-08-00137)

The failure to diagnose the cause of a rare genetic disease occurs in ~50% of the cases and the rate of discovery of novel genes and disease-gene relations appears. The ultimate goal is to accelerate understanding of these ...

Health-related biotechnology

  • 2019 - 2023
    • •
  • 14 485 tis. Kč
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  • 14 485 tis. Kč
    • •
  • MZ
Project

Personalized Medicine – Diagnostics and Therapy (TN01000013)

Center PerMedT is focused on applied research in diagnostics and therapy of rare and genetically determined diseases. The aim is to develop both personalized diagnostic methods as well as drug candidates/drugs which would help spec...

Pharmacology and pharmacy

  • 2019 - 2022
    • •
  • 223 884 tis. Kč
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  • 178 916 tis. Kč
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  • TA ČR
Project

National centre for new methods of diagnosis, monitoring, treatment and prevention of genetic diseases (TN02000132)

and facilitate diagnostic monitoring of rare diseases development and treatment; developmentThe DIAMOD project aims to improve diagnostic quality beyond the identification of mutations in the genome and to create a base for monitor...

Genetics and heredity (medical genetics to be 3)

  • 2023 - 2026
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  • 51 151 tis. Kč
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  • 39 872 tis. Kč
    • •
  • TA ČR
Project

Information system for advanced analysis of pacients with rare diseases data (EI22_002/0000726)

The aim of the project is to create an automated software solution Revident Gateway 2.0, based on research and development of a set of procedures and tools for advanced analysis of therapeutic data on the treatment of patients with rare ...

Public and environmental health

  • 2024 - 2026
    • •
  • 20 705 tis. Kč
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  • 0 tis. Kč
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  • MPO
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