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Latvian Biomedical Research and Studies Centre launches new project " The determination of rare inherited diseases' causative mechanisms using whole genome sequencing approach”



On 1st April BMC will be launched European Regional Development Fund (ERDF) Operational Programme Growth and Employment 1.1.1 Specific Aid Objective to increase the research and innovative capacity of scientific institutions of Latvia and the ability to attract external financing, investing in human resources and infrastructure Measure “Support for applied research” 2. Selection round.

"The determination of rare inherited diseases' causative mechanisms using whole genome sequencing approach” (Project Identification No The project principle investigator in BMC is Dr. biol. Inna Iņaškina. Cooperation partner is SIA Latvia MGI Tech.

About the project:

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).

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