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:

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.
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.
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.

Clinical Proforma, Video, Investigation

Our comprehensive approach includes the collection of clinical proforma, videos, and various investigations, facilitating a holistic understanding of patient profiles.

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, Whole Genome Sequencing, and Long-Read Sequencing.

Functional Genomics

Employing state-of-the-art functional

Employing state-of-the-art functional genomics techniques

Obtaining Fibroblasts

We work towards obtaining fibroblasts, for better understanding of functional genomics underlying in genetic disorders.

REDCAP Database

Utilizing the REDCAP database, we efficiently manage and organize clinical data, ensuring a proper foundation for research and analysis.

Quantifying Our Impact

We track our progress by monitoring the number of recruited families and the extent of sequencing performed, including trio WES analyses.

Our ongoing efforts have resulted in the identification of novel genes specific to the CAT region, contributing to the global understanding of genetic diversity.

As part of our commitment to collaboration, we share raw data with collaborators, fostering a collective approach to analysis and insights.

Learn More

Advancing Parkinson's Disease Understanding in Central Asia

The Global Parkinson's Genetics Program (GP2) is committed to deepening our comprehension of Parkinson's disease (PD) by genotyping diverse participant groups and exploring highly suspected monogenic forms of PD. Through global collaboration, transparent data sharing, and open processes, we're amassing diverse cohorts worldwide to achieve our mission.

Our endeavor is to examine whether the clinical course and presentation of PD in Central Asia (CAT) exhibit distinct characteristics compared to the global norm. Our hypothesis is that studying PD genetics in the CAT region could unveil novel candidate genes and risk variants, potentially shaping future PD research. Our objective is to establish trial-ready cohorts for future investigations.

Key Aims of the CAT-PD project:

Characterizing PD in CAT:

Investigate the clinical presentation and disease progression of 5,000 PD patients and 10,000 matched spouse controls in CAT.
Define unique risk factors associated with PD in CAT.
Compare PD characteristics between CAT and Western and Eastern populations.
Exploring Genetic Background:
Uncover the genetic underpinnings of PD in CAT by collaborating with GP2.
Compare the CAT genetic landscape with global datasets.
Pave the way for large-scale, multicenter PD studies in CAT.
Establish a comprehensive longitudinal biobank containing DNA, plasma, urine, and feces biomarkers extracted from CAT-PD and spouse populations.
Facilitate future research by sharing this biobank with the scientific community.
Enabling Trial-Readiness:
Assemble cohorts ready for clinical trials from CAT-PD populations.
Lay the foundation for innovative research to evaluate potential treatments and interventions.

Collaborative Effort: This ambitious study will be carried out by a team of movement disorders experts hailing from the CAT region. They will be under the guidance of Principal Investigators (PI) and Co-PIs from the University College London (UCL). This collaboration brings together diverse expertise to tackle PD from multiple angles and perspectives, ensuring comprehensive insights into the disease's dynamics within the CAT region.

By investigating PD intricacies in CAT, we aspire to make substantial contributions to the global understanding of this complex neurological disorder. This effort not only holds promise for uncovering novel insights but also exemplifies the power of international collaboration in pushing the boundaries of medical research. Through sharing knowledge, resources, and a common goal, we aim to pave the way for improved diagnostics, treatments, and ultimately, a better quality of life for those affected by Parkinson's disease.

In 2018 we established official collaborations between UCL and CAT Research centers

Since then we have visited CAT research centers, delivered lectures, examined patients and retrieved over 7,000 samples from affected individuals with rare paediatric neurological diseases, PD, ALS & Neuromuscular Diseases

Several visits have been made to each CAT country to meet local teams, see their patients and meet the local health authorities

CAT students and researchers have also visited UCL to learn genetic analysis techniques, bioinformatics and improve clinical skills

This collaboration is a long-term endeavour where the main purpose is training and providing free genetic testing to genetically unresolved families from CAT countries