Genetics, or the study of inherited characteristics, has been of interest to scientists since the 1800’s when Mendel first carried out experiments on pea plants. However, the last 50 years has seen major progress in the field including Watson and Crick’s description of the DNA double helix in 1953, advances in technology and the Human Genome Project which began in 1990. This massive undertaking to determine the sequence of the 3 billion chemical base pairs that make up human DNA finally reached fruition in 2003, two years ahead of schedule.

The study of human genetics has revolved around the inheritance of disease genes within families. The identification of these disease genes was a laborious and time consuming process and involved a technique called “positional cloning” or “reverse genetics”. However the information obtained from the Human Genome Project has revolutionised the hunt for disease causing genes. As the identification of the gene underlying a specific disease is the first step towards the development of appropriate treatments these advances have huge benefits.

The Nuffield Laboratory of Ophthalmology has ongoing interests in the genetics of eye diseases outlined on the individual researcher’s home pages.