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Functional and genetic research of rare unidentitied neuromuscular disorders



Project Title: „Functional and genetic research of rare unidentitied neuromuscular disorders”

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 neuromuscular diseases and diagnostics of patients with such disorders. The specific aim of the project focuses on two topics: 1) to better understand and characterize the recently identified mutant MYBPC1 protein, its interactions with other cellular partners, and the molecular mechanisms underlying newly described disease phenotype; 2) using the newest molecular biology methods, namely whole genome sequencing, to identify novel causative genetic elements (genes, inter-gene regions or chromosomal rearrangements) for rare and/or unidentified neuromuscular disorders.

To reach the specific aim of the project, we have tailored the following activities: development of knockin mouse model for the mutation in human MYBPC1 gene and its in-depth study; transcriptome analysis of patients’ tissue samples and tissue samples obtained from the mouse models; recruitment of patients suffering from rare and/ or unidentified neuromuscular diseases; whole genome sequencing analysis of aforementioned patients with a goal to identify novel causative genetic elements.

Research will join advances and technologies from several scientific fields: medicine, biomedicine, biotechnology and bioinformatics. Public access to research results will be provided in the form of animal functional model data, publications and patients’ whole genome sequencing data available for further studies (in an anonymized form).

Information published 01.04.2019.


Progress of the project:

1 April 2019 – 30 June 2019

In the frame of the ERDF 097 project, the analysis of the mutant MYBPC1 protein mouse model was continued in cooperation with the Dr A.Controgianni group (University of Maryland School of Medicine), the obtained data were presented at the European Human Genetics Conference in June in Gothenburg, Sweden. In parallel, a procurement procedure is being prepared for the production of a new mouse model.

As part of the project, the involvement of patients suffering from inherited neuromuscular diseases and their relatives in the Genome Database of Latvian Population was started. Joint meetings between project executors and participating clinical specialists are held regularly, where cases of individual patients are discussed.

Information published 28.06.2019.

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