Central Asian & Transcaucasian Genomics
Establishing Genomics studies across Central Asia & Transcaucasia
Our Research Focus
Our research focuses on the following neurological diseases:
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Rare Pediatric Neurological Diseases: Our focus lies in unraveling the molecular intricacies underlying rare neurological diseases within Central Asia and the Transcaucasian region (CAT). We are dedicated to identifying founder mutations prevalent in CAT populations, with the ultimate goal of integrating these discoveries into national screening programs. Additionally, our pursuit extends to uncovering novel disease genes specific to CAT populations. This research strand is an integral component of the SYNAPS project, detailed in the accompanying file and invitation letter.
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Parkinson's disease - we are currently running a Michael J Fox Foundation funded Developing A Collaborative Parkinson's Disease Biobank in Central Asia and Transcaucasia (CAT-PD) project (a link to another page)
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Huntington's disease - we are defining the genetic causes of hereditary chorea in CAT. We have collected DNA samples from over 70 families with HD from CAT and are currently studying HTT haplotypes and HD modifiers.
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Spinocerebellar ataxia - we have collected clinical and genetic data on hundreds of families with SCA from CAT. We are building a patient registry for SCA in Kazakhstan.
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Dementia, including Alzheimer's disease - we are collecting patients with dementias and AD from Kazakhstan for genetic and biomarker studies
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We are engaged in delineating the genetic landscape of ALS within CAT populations, contributing to a broader understanding of this debilitating condition.
"Solve-RD - solving the unsolved rare diseases" is a research project funded by the European Commission for five years (2018-2022). It echoes the ambitious goals set out by the International Rare Diseases Research Consortium (IRDiRC) to deliver diagnostic tests for most rare diseases by 2020. The current diagnostic and subsequent therapeutic management of rare diseases is still highly unsatisfactory for a large proportion of rare disease patients – the unsolved RD cases. For these unsolved rare diseases, we are unable to explain the etiology responsible for the disease phenotype, predict the individual disease risk and/or rate of disease progression, and/or quantitate the risk of relatives to develop the same disorder.
Our main ambitions are thus
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to solve large numbers of rare disease, for which a molecular cause is not known yet by sophisticated combined omics approaches, and
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to improve diagnostics of rare disease patients through contribution to, participation in and implementation of a “genetic knowledge web” which is based on shared knowledge about genes, genomic variants and phenotypes.
In the pursuit of these objectives, our partnership with Solve-RD represents hope for individuals afflicted by rare diseases through interdisciplinary cooperation in addressing complex medical enigmas.
Notably, the involvement of Central Asian and Transcaucasian Genomics aims to enrich genetic dataset of the Solve-RD initiative. By contributing samples sourced from the CAT region, this collaboration extends the breadth and depth of genomic information available for comprehensive analysis within the Solve-RD framework. Such contributions amplify the diversity of genetic substrates under investigation, promising to uncover novel insights into rare diseases that transcend regional and ethnic boundaries. This collaborative effort underscores the pivotal role of global cooperation in advancing rare disease research and fostering equitable healthcare solutions across diverse populations.