In addition to her research into the causes of Williams syndrome, Professor Donnai also has identified a specific mutation that became known as Donnai-Barrow syndrome, named for her and one of her colleagues. Donnai-Barrow syndrome now is considered part of a group of syndromes characterized by severe functional deficiencies, including severe hearing and vision loss, learning disabilities, as well as internal problems.

Professor Donnai qualified in medicine in London and then trained in pediatrics and genetics in London, Sheffield and Manchester. She is a fellow of the Academy of Medical Services and past president of the Medical Sciences Section of the British Association for the Advancement of Science. She was the consultant advisor to the Chief Medical Officer for England from 1998 to 2004 and was appointed Commander of the Order of British Empire in 2005.

The March of Dimes/Colonel Harland Sanders Award for Lifetime Achievement in the field of genetic sciences is given annually to an individual who has made a significant contribution to the genetic sciences.

Source: March of Dimes Foundation