A pioneering professor and investigator at the forefront of genetic services in the United Kingdom and who helped define rare genetic diseases is the 2010 recipient of the March of Dimes/Colonel Harland Sanders Award for lifetime achievement in the field of genetic sciences.
Dian Donnai, a professor of medical genetics at the University of Manchester and the current President of the European Society for Human Genetics, is known for her research on rare genetic diseases, such as Williams syndrome, in which individuals have heart defects and cognitive disabilities.
“We are proud to recognize Prof. Donnai’s research career and her commitment to making genetic services and counseling available to all,” said Dr. Michael Katz, senior vice president for Research and Global Programs at the March of Dimes. “Not only has her work helped improve the lives of those affected by rare genetic diseases, but it also has benefited millions of others seeking information and support.”
Dr. Katz presented the award to Prof. Donnai today at the Annual Clinical Genetics Meeting of the American College of Medical Genetics, held at the Albuquerque Convention Center.
Professor Donnai is the clinical head of St. Mary’s Hospital in the Central Manchester University Hospitals NHS Trust which includes the Genetic Medicine Center. The center serves more than five million people and offers a host of diagnostic, counseling and support services as well as an extensive research program. It is one of the largest and most comprehensive genetics centers in Europe.
Professor Donnai also is executive director of Nowgen, a center originally funded in 2002 by the United Kingdom Departments of Health and Trade & Industry to improve the practice of genetic medicine. She has long been an advocate for more dialogue among patients, the public and the genetic healthcare community Many of Nowgen’s initiatives, such as encouraging patient empowerment to studying the economic impact of genetic medicine on the healthcare system, reflect this.
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.