About our Project
Central Asian and Transcaucasian Genomics (CATG) Mission
Led by a collaborative effort between the University College London Institute of Neurology and CAT researchers from six countries, CATG is dedicated to advancing genetic and genomics research, particularly focusing on rare diseases and common neurodegenerative disorders in the CAT region.
Primary mission:
Increasing the representation of Central Asian and Transcaucasian population in global genomic research by studying Rare and Neurodegenerative Diseases in CATG.
Secondary missions:
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Promoting Genetic Research: We strive to foster and promote genetic and genomics research within CAT, creating a collaborative platform for researchers to exchange knowledge and contribute to cutting-edge advancements in the field.
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Enhancing Access to Genetic Testing: CATG is committed to increasing access to genetic testing within CAT populations. By doing so, we aim to empower individuals, families, and healthcare professionals with valuable genetic insights for informed decision-making.
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Creating Centers of Excellence: We are aiming to create centers for training and qualification of genomic specialists and establishing a network of researchers promoting genomics in CAT region.
Key Components of CATG Project:
CATG's project covers several components, each of them are crucial and contributing to the primary and secondary missions:
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Clinical Proforma, Video, Investigations: Our comprehensive approach includes the collection of clinical proforma, videos, and various investigations, facilitating a holistic understanding of patient profiles.
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Blood Samples, DNA Extraction, WES, WGS, and LRS: we collect and analyze blood samples, extract DNA, and employ nex generation sequencing techniques such as Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), and Long-Read Sequencing (LRS).
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Functional Genomics: Employing state-of-the-art functional genomics techniques.
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Obtaining Fibroblasts: We work towards obtaining fibroblasts, for better understanding of functional genomics underlying in genetic disorders.
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REDCAP Database: Utilizing the REDCAP database, we efficiently manage and organize clinical data, ensuring a proper foundation for research and analysis.
Quantifying Our Impact:
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We track our progress by monitoring the number of recruited families and the extent of sequencing performed, including trio WES analyses.
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Our ongoing efforts have resulted in the identification of novel genes specific to the CAT region, contributing to the global understanding of genetic diversity.
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As part of our commitment to collaboration, we share raw data with collaborators, fostering a collective approach to analysis and insights.