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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.

 

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.

 

Progress of the project:

1 July 2019 – 30 September 2019

As part of the project, the enrolment 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 continued. The experimental part of the project was started - the whole genome sequencing analysis was performed for several patients. The data analysis algorithm is currently being developed and the data obtained is being analysed. 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).

Information published 30.09.2019.

 

Progress of the project:

1 October 2019 – 31 December 2019

As part of the ERDF 096 project, the enrolment of patients suffering from rare inherited diseases and their relatives in the Genome Database of Latvian Population was continued. It is including the collection of clinical and phenotypical data, DNA and tissue samples. 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. The whole genome sequencing analysis was performed for selected patients and their relatives. The data analysis algorithm is currently being developed and the data obtained is being analysed.  In parallel, available row data from patients' previous genetic tests, for example, whole exome or gene panel sequencing, are re-analyzed.

Information published 30.12.2019.

 

Project progress

 1 January 2020 – 31 March 2020

As part of the ERDF 096 project, the enrolment of patients suffering from rare inherited diseases and their relatives in the Genome Database of Latvian Population was continued. It is including the collection of clinical and phenotypical data, DNA and tissue samples. Joint meetings between the project's executors and involved clinical specialists are held on a regular basis (monthly). During these meetings, selected family cases are discussed. The whole genome sequencing analysis was performed for selected patients and their relatives. The data analysis algorithm is currently being developed and the data obtained is being analysed.  In parallel, available row data from patients' previous genetic tests, for example, whole exome or gene panel sequencing, are re-analysed.

Information published 31.03.2020. 

 

Progress of the project:

1 April 2020 – 30 June 2020 

As part of the ERDF 096 project, the enrolment of patients, suffering from rare inherited diseases, and their relatives, as well as the paediatric oncological patients with suspected genetic changes, in the Genome Database of Latvian Population was continued. It is including the collection of clinical and phenotypical data, DNA and tissue samples.

Due to the emergency caused by the COVID-19 epidemic, work in the laboratory was suspended in March and resumed in June.

Joint meetings between the project's executors and involved clinical specialists are held on a regular basis (in person and on-line). During these meetings, selected family cases are discussed.

The data analysis algorithm is currently being developed and the data obtained is being analysed.  In parallel, available raw data from patients' previous genetic tests, for example, whole exome or gene panel sequencing, are being re-analysed.

Information published 30.06.2020

 

Progress of the project:

1 July 2020 – 30 September 2020 

As part of the ERDF 096 project, the enrolment of patients suffering from rare inherited diseases and their relatives in the Genome Database of Latvian Population was continued. It is including the collection of clinical and phenotypical data, DNA and tissue samples. Joint meetings between the project's executors and involved clinical specialists are held on a regular basis (monthly). During these meetings, selected family cases are discussed. The whole genome sequencing analysis was performed for selected patients and their relatives. The genetic diagnosis was established for four patients and several potentially pathogenic genetic variants have been found in others. Further analysis is necessary. The data analysis algorithm is still being developed and improved. In parallel, available row data from patients' previous genetic tests, for example, whole exome or gene panel sequencing, are re-analysed.

Information published 30.09.2020



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".