MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Integrating genomics with clinical care

Bringing cutting edge genomic technologies to clinical diagnosis.

Researchers at the MRC Human Genetics Unit have identified more than 20 genes linked to severe human developmental and childhood neurological disorders. Definitive diagnosis is essential for genetic counselling, prenatal screening and postnatal management. This research benefits people with developmental disorders and their families, prospective parents, the NHS and healthcare delivery organisations.

The MRC Human Genetics Unit participates in the Translational Genomics Initiative, established in 2015 and funded by the IGMM, NHS Lothian and the Wellcome Trust. It is a unique collaboration between the University of Edinburgh and NHS, which aims to develop systems that allow efficient implementation of cutting edge genomic research technologies and strategies that have immediate diagnostic utility in the clinic. It aims to train the next generation of clinical scientists and bioinformaticists in advanced genomic analysis and technologies that have emerged from clinical diagnostic research activities within the IGMM. The Initiative will integrate the proven strengths of the UoE and the NHS diagnostic laboratories in molecular diagnostics (training, development and clinical implementation), analysis of complex phenotypes and computing; covering the breadth of genome medicine experience available within the University and NHS Lothian.

The main aims of the Translational Initiative are: (1) training a new generation of clinical scientists using genome-analysis-aided approaches to diagnosis and treatment of human disease; (2) developing new tests and clinical applications utilizing the advantages of novel technologies; (3) creation of new algorithms, standard operating procedures, data flow schemes and advanced statistical and computational methods that will directly facilitate analysis of the vast and complex data generated by genomics and imaging methods, to implement these new molecular pathology approaches in the clinic.