The Neurogenetics Laboratory is uniquely experienced in delivering a specialised service for inherited neurological conditions. It is part of the National Hospital for Neurology and Neurosurgery (NHNN), a dedicated neurology hospital within ULCH NHS Trust. It is merging with the Great Ormond Street Hospital Genetics Laboratory in April 2020. Following the merger, UCLH Neurogenetics Clinical Scientists will be working alongside the GOSH team as part of the Rare & Inherited Disease Laboratory of the London North Genomic Laboratory Hub.
The laboratory provides a regional service for inherited neurological disease and a national and international diagnostic service for rare neurogenetic disorders. It hosts two nationally-commissioned Highly-Specialised Services: For Rare Mitochondrial Disorders (in collaboration with centres based in Oxford and Newcastle), and a national service for Skeletal Muscle Channelopathies.
Scientific expertise within the laboratory covers inherited movement disorders such as Huntington’s disease, dystonia, ataxia and familial Parkinsonian diseases. Neuromuscular and episodic disorders are also catered for, including peripheral neuropathies, mitochondrial disorders and channelopathies. It also specialises in neurodegenerative conditions such as early-onset dementia and amyotrophic lateral sclerosis. It is a UKAS accredited medical laboratory (no. 8040).
The laboratory is closely integrated with clinical care so that its services develop in line with medical need to provide both sets of users – patients and medical professionals – with an up-to-date and comprehensive service.
In addition to clinical diagnostic testing the laboratory is active in research, calling on large clinically characterised cohorts of patients and through collaborations with clinicians and scientists at the NHNN, the UCL Queen Square Institute of Neurology, and other laboratories in the UK and further afield. Research activity focuses on the molecular basis of neurogenetic disorders and development of enhanced molecular genetic diagnostic techniques.