Addressing genetic data inequality in neuromuscular diseases through global partnerships

Led by Professor Michael Hanna (UCL Queen Square Institute of Neurology), the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) has formed a remote partnership that spans across different continents to address the inequality in genetic data related to neuromuscular diseases.

The results of the partnership’s research, including data from over 6,000 study participants, were published in the scientific journal Brain in July 2023.

Genetic neuromuscular diseases (NMDs) impact approximately 15 million people worldwide, with a majority of affected families living in low to middle-income countries outside of Europe. However, most of the published genetic data comes from populations of European ancestry, limiting our understanding of the genetic diversity of these diseases, and the ability to provide accurate diagnoses, tailored treatments and prognoses across all income settings.

To tackle this issue, the ICGNMD partnership – which brings together 18 centres from Brazil, India, South Africa, Turkey, Zambia, the Netherlands and the UK – has conducted comprehensive genetic analyses of neuromuscular diseases across diverse populations, leveraging international studies.

The study data represents a significant resource, providing crucial information from underrepresented populations for genetic and translational research, with potential to transform research and patient care.

Lead Principal Investigator, Professor Mike Hanna (Director, UCL Queen Square Institute of Neurology) said: “The ICGNMD builds on international neuromuscular diseases partnerships we have developed over many years. It is a striking fact that 86% of all human genetic data ever collected is derived from European ancestry. This dramatic genomic data inequality is a missed opportunity to deeply understand gene function and hinders accurate genetic diagnosis and access to therapies in non-European ancestry groups both in the UK and globally. I am very pleased we have been able to bring together a fantastic research team in 18 centres across four continents to develop a deeper understanding of the genetic architecture of neuromuscular diseases in underrepresented populations.”

Ciaran Moynihan (Director of UCL Global Engagement) said: “Rare, inherited diseases need global partnerships in order to assemble sufficient data to understand their causes and optimise care and treatment pathways. The ICGNMD is an excellent example of co-creation and multilateral co-operation, supporting the development of local capacity alongside critical patient cohorts and linked data.”

Read more on the UCL Queen Square Institute of Neurology website

Links 

• Journal article in Brain: Neuromuscular disease genetics in underrepresented populations: increasing data diversity
• International Centre for Genomic Medicine in Neuromuscular Diseases
• Professor Michael Hanna profile
• UCL Queen Square Institute of Neurology
• New MRC-backed international partnership to support neuromuscular disease patients around the world

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