Queen Square Centre for Neuromuscular Diseases


International Centre for Genomic Medicine in Neuromuscular Diseases

UCL Queen Square Institute of Neurology is leading an international strategic partnership with Newcastle and Cambridge linking across five continents.

Professor Michael Hanna has led a successful bid to the MRC for a strategic award to establish a brand new International Centre for Genomic Medicine in Neuromuscular Diseases. The award includes £3.66m from the MRC and £2m from the UCL, Newcastle and Cambridge Universities. In addition staff and resources from international Centres in Brazil, India, South Africa, Turkey and Zambia will be central to the partnership:

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International Centre for Genomic Medicine in Neuromuscular Diseases - UCL – University College London

Our Mission is to create a transcontinental genomics research and capacity building partnership between the UK and Official Development Assistance Lower and Middle Income Countries (ODA-LMICs) to include Brazil, India, South Africa, Turkey and Zambia. We will discover new disease genes, understand comparative genetic architecture and explore disease mechanisms. We will increase the number of patients with an accurate genetic diagnosis, build trial-ready cohorts, and ultimately improve health outcomes for patients with neuromuscular diseases drawn from a population of over 1.5 billion.

Our Vision a mature transcontinental academic partnership led by a group of outstanding clinical academics graduated from our training programme. They will be an enduring sustained legacy of expertise and will harness genomics to improve the lives and health outcomes of children and adults with neuromuscular diseases (NMDs) across the globe.

1. Establish an international fellowship training programme to generate a group of highly trained clinical academics who will be a legacy of leaders in personalised genomic medicine in the LMICs. These fellows will establish enduring mutually beneficial collaborative scientific links with the UK NMD clinical and genetic expertise based in Newcastle, Cambridge and UCL.

2. Establish a core international bioinformatics platform, pipeline and cloud-based clinical and genetic database. Openly share phenotypic and genetic data, and encourage other LMICs to join this collaborative programme.

3. Build ethnically diverse 'trial-ready' cohorts of children and adults with NMDs which we will deeply phenotype and comprehensively genotype.

4. Identify known and new disease genes, and assess comparative genetic architecture of NMDs across four continents. Use this knowledge to understand phenotypic variability, disease progression and disease mechanisms.

5. Increase the number of patients in LMICs with a precise genetic diagnosis enabling  delivery of a personalised disease management plan, based on care guidelines to identify and manage complications using widely available and cheap interventions to improve health outcomes.

6. Enhance genetic diagnostics in UK-based Indian, Brazilian, Turkish & African NMD patients.

7. Build sustainability after five years, through retention of trained fellows in LMICs and through collaboration with host institutions, patient organisations, and local healthcare providers.