Autozygosity mapping

Welcome to the Centre for Autozygosity Mapping

Sir Jules Thorn Charitable Trust is a UK and International resource for all those interested in the identification of recessive disease genes through autozygosity mapping in consanguineous families. We receive major funding through the 2009 Sir Jules Thorn Award for Biomedical Research, entitled An international resource for the autozygosity mapping and identification of recessive disease genes in consanguineous families. Other funding sources include the MRC and the Department of Health.

We have a long track record of achievement in this field and are active in the development of new methodologies and analysis of new disorders. We invite new collaborations with colleagues from the UK and worldwide. We also provide a range of tools for autozygosity mapping and related purposes, available for download on this website.

Clinical benefit

The principal driver for our studies is clinical need. As a direct consequence of this, our research findings generally lead very rapidly to the development of new diagnostic possibilities (i.e., our work is translational). A good example is the implementation of a portfolio of genetic tests for the five genes that cause Aicardi-Goutières syndrome.

Identity by descent around disease gene in offspring of first-cousin marriage

Last modified: 8 February 2011