International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD)

Status: Open to recruitment

Background

Map of the Globe showing a few dots around the world

Neuromuscular diseases (NMDs) affect at least 17 million children and adults globally. They cause either premature death or chronic disease that cause lifelong disability with economic impact. They include many different disorders affecting muscle and nerve function and can present with variable clinical features.

The vast majority of NMDs are single gene disorders. Identifying genetic pathways has led to important advances in disease understanding, patient management and development of new therapies.

Objectives

This is a large international study led by University College London (UCL). The international centre aims to build an ethnically diverse cohort of children and adults with neuromuscular and neurogenetic diseases across four continents (Africa, Asia, South America and Europe) to improve our understanding of known and new disease variants and genes across the world.

Research aims

  • To identify the genetic causes of neuromuscular and other neurogenetic conditions.
  • To identify known and new disease genes and assess comparative genetic architecture of NMDs across four continents.
  • To improve patient diagnosis and management of disorders, including delivery of personalized management plans.

Who can take part?

  • Children and adults with a suspected or confirmed neuromuscular or neurogenetic condition (all ages).
  • Relatives (parents/siblings) of an individual diagnosed with a neuromuscular or neurogenetic condition (>16 years old).
  • Healthy volunteers (>16 years old).

What is involved?

We would like to collect clinical and personal information (e.g. demographics, medical records, family history and clinical examination findings). We will ask for permission to store this data indefinitely and share it with researchers around the world. We would also like to extract DNA and RNA from blood and other tissue samples. Participants may be required to attend a study visit or complete a telephone consultation with a study doctor.

For more information on this study, please click here.

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