The aim of the MRC Human Genetics Unit is to advance the understanding of genetic factors implicated in human disease and normal and abnormal development and physiology.
We are part of the MRC Institute of Genetics & Molecular Medicine at the University of Edinburgh. Our research groups use the latest experimental technologies to understand how our genome works to control the normal function and development of cells, tissues and organisms, and how mutations perturb genome function in disease. This is combined with the power of computational approaches to harness the wealth of emerging data on genome variation between individuals, between cells and between species.
- To understand the molecular basis of human genetic disease and normal development – especially that of the eye, the brain and growth
- To identify and understand the genome sequence variants involved in common disease risk and quantitative traits
- To understand how the flow of information from DNA to the organism is regulated
- To identify the forces of mutation and selection that influence human genome variation
- To investigate opportunities for novel diagnostic and therapeutic approaches
The MRC Human Genetics Unit has strength and depth in experimental and computational biology, in an environment where ideas, reagents and facilities are shared, and this is what is needed to pursue the fundamental molecular, cellular and developmental mechanisms that underlie human genetic disease and normal biology.