Human Genetics Unit

In situ hybridisation to NFATc1 in E14.5 mouse hindlimb.

Medical Research Council
Human Genetics Unit





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. Its 28 research groups use the latest experimental technologies to understand how genes work to control the normal function and development of cells, tissues and organisms, and how mutations perturb gene 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.


Scientific aims:

  • 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


Further information can be found on our research pages.

“This is an exciting time for human genetics, with the advent of large-scale whole-genome sequencing producing unprecedented data on human genome variation, and developments in genome editing, induced pluripotent stem cells, optical imaging and proteomics opening up new avenues for the experimental investigation of DNA, RNA, protein, cell and organismal function. 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.”

Professor Wendy Bickmore FRSE FMedSci

Director, MRC Human Genetics Unit