Global partnership improves diagnoses for childhood brain disorders in Central Asia & Transcaucasia

The Correspondence article, published in Nature Genetics describes the work carried out by the Central Asian and Transcaucasian Rare Paediatric Neurological Diseases Genetics consortium (CAT genomics). This partnership aims to increase access to genetic testing and enhance genetic expertise in these regions.

Advancements in genomics in recent years have enabled many families to receive molecular diagnoses for rare diseases, including rare paediatric neurological diseases (RPND). However, regions such as Central Asia and Transcaucasia remain underrepresented in genetic research, leaving families without definitive diagnoses.

To better understand the genetic variations associated with RPND, the CAT genomics consortium recruited over 2,200 families from Central Asia and Transcaucasia affected by RPND. Families consented to DNA being collected and researchers at the UCL Queen Square Institute of Neurology analysed the protein-coding genes of children with neurological symptoms and their biological parents.

They discovered several new gene-disease associations in families from Central Asia and Transcaucasia. This resulted in the creation of a sequence variant database for this region, now integrated into the Queen Square Genomics Database. The database showcases both shared genetic variants with neighbouring populations and unique variants specific to each country in the region and enhances our understanding of the heterogeneity of RPND.

This research also provided families with long-awaited answers. For many, it provided molecular diagnoses, allowing families to make decisions and access services, leading to improved patient care.

Speaking about the research, lead author Dr Rauan Kaiyrzhanov (UCL Queen Square Institute of Neurology) said: “This research highlights the critical importance of international collaboration in addressing rare diseases and genetic studies in underrepresented regions.

“One of the aims of the consortium is to raise awareness of RPND in Central Asia and Transcaucasia and we hope that identifying genetic variants specific to this region will lead to the development of newborn and carrier screening tests.”

Related:

• Correspondence article in Nature Genetics
• Dr. Rauan Kaiyrzhanov's academic profile
• Dr. Reza Maroofian's academic profile
• Professor John Hardy's academic profile
• Professor Henry Houlden's academic profile
• The The Neurogenetics Lab

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