Research Projects All Projects

Quick links

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 “Support for applied research” 

Project No.:

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.


Progress of the project:

1 April 2019 – 30 June 2019

As part of the ERDF 096 project, the involvement of patients suffering from rare inherited diseases and their relatives in the Genome Database of Latvian Population, including the collection of clinical and phenotypical data, DNA and tissue samples, was initiated.

Joint meetings between the project's executors and envolved clinical specialists are held on a regular basis (monthly). During these meetings, selected family cases are discussed and decisions are made whether to move them to the next phase of the project (whole genome sequencing). In parallel, available row data from patients' previous genetic tests, for example, whole exome or gene panel sequencing, are re-analyzed.

Information published 28.06.2019.

Mājas lapas izstrādi finansēja ERAF aktivitātes projekts Nr. 2010/0196/2DP/ "Latvijas biomedicīnas pētījumu integrācija Eiropas zinātnes telpā".