INTERNATIONAL CENTRE FOR GENOMIC MEDICINE IN NEUROMUSCULAR DISEASES (ICGNND) (ICGNMD)

Research summary

Neuromuscular Diseases (NMDs) affect at least 17 million children and adults globally. They cause either premature death, or are chronic diseases causing lifelong disability with economic impact. They include many different disorders affecting muscle and nerve function, and account for approximately 25% of all non-infectious neurological diseases. Most NMDs are caused by changes to single genes. Identifying these precisely and understanding how they cause disease has already led to some important advances in patient management plans and the development of new therapies. Many of the interventions that follow precise genetic diagnosis are simple and able to be implemented easily and without large cost internationally. Our central objective is to build ethnically-diverse cohorts of children and adults with NMDs and undertake genomic analysis to find both known and new genetic changes involved. We will increase the number of patients with a precise genetic diagnosis to improve their care and increase knowledge about the global genetic causes of NMDs. We will recruit (internationally) between 5,000 and 15,000 people who are affected by NMDs, as well as their family members and unrelated control participants. We will undertake cohort-building and genetic characterization of NMDs alongside capacity-building expertise in NMDs in the UK and overseas. This will increase the number of people able to accurately diagnose these diseases around the world.

Principal Investigator

Dr Victoria Nesbitt

Contact us

Email: childrensresearch@ouh.nhs.uk

IRAS number

243406