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Latvian Biomedical Research and Studies Centre launches new project “Functional and genetic research of rare unidentitied neuromuscular disorders”



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.

"Functional and genetic research of rare unidentitied neuromuscular disorders” (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 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).

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