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The determination of rare inherited diseases' causative mechanisms using whole genome sequencing approach

 

 

Project Title: „The determination of rare inherited diseases' causative mechanisms using whole genome sequencing approach”

Funding: European Regional Development Fund (ERDF), Measure 1.1.1.1 “Support for applied research” 

Project No.: 1.1.1.1/18/A/096

Period: 1 April 2019 – 31 March 2022

Project costs: 648 648 EUR

Principle Investigator: Dr. biol. Inna Iņaškina

Cooperation partner: SIA Latvia MGI Tech

 

Project summary:

The general aim of the project is to improve public health through the expansion of our knowledge about rare inherited diseases and diagnostics of patients with such disorders. Specific aim of the project is to identify novel causative genetic elements in rare inherited disease patients in whom pathogenic variants have not been identified so far by conventional genetic analysis approaches.

To reach the specific aim of the project we have tailored the following activities:

1.         Establishing criteria for selection and recruitment of patients suffering from rare diseases. The patients included in the study will represent a challenging group for testing as they have been previously extensively investigated using gene panel or whole exome sequencing approaches and remain without a genetic diagnosis for their disease.

2.         Whole genome sequencing of trio samples (patients plus parents), bioinformatic analysis of data

3.         Validation and interpretation of genetic variants identified by WGS. Analysis of candidate genes or other genetic elements selected on the basis of WGS, using available sources of scientific information (publications, genetic variant and medical databases, as well as databases on available animal models).

Information published 01.04.2019.



Mājas lapas izstrādi finansēja ERAF 2.1.1.2. aktivitātes projekts Nr. 2010/0196/2DP/2.1.1.2.0/10/APIA/VIAA/004 "Latvijas biomedicīnas pētījumu integrācija Eiropas zinātnes telpā".