Death of medical genetics expert

Victor McKusick, 86, considered to be a founding father of medical genetics, died on Tuesday at his home in Baltimore, USA. Dr McKusick worked at Johns Hopkins University, USA, and spent over 40 years compiling the 'Mendelian Inheritance In Man' (MIM) database of all known genes and genetic diseases. He was one of the first people, in 1969, to urge the scientific community to sequence the human genome.

McKusick decided to start a career in medicine when, aged 15, he was admitted to hospital with a serious bacterial infection. The infection was subsequently cured with sulfanilamide, one of the first antibiotics and he said of the experience, 'I decided I like what doctors did. I decided I wanted to join them'. He studied medicine at Tufts University, but moved to Johns Hopkins University in 1943, where he trained as a cardiologist.

His career path changed, however, when he encountered a patient suffering from a rare inherited disorder. He studied and characterised the disease, Marfan syndrome, and discovered that the symptoms of the disease were caused by a single abnormal gene. Intrigued by this early work, he turned to genetics full time, and established one of the first departments of medical genetics in 1957.

He began looking at groups of people with small gene pools, and using medical and genetic histories, he demonstrated that it was possible to identify the genes responsible for inherited disorders. He went on to discover inherited disease as well as identify and map thousands of other genes responsible for inherited conditions. He became a pioneer of linking genes to diseases. The 'Online Mendelian Inheritance In Man' (OMIM) database, now contains over 18,000 entries, and is an essential reference for researchers and medical geneticists.

Among McKusick's many awards were the 1997 Albert Lasker Award for Special Achievement in Medical Science, the 2001 National Medal of Science and the 2008 Japan Prize in Medical Genomics and Genetics.

McKusick died from cancer on 22nd July. He is survived by his wife of 59 years, Ann, a retired associate professor of rheumatology at Johns Hopkins; a daughter, Carol Anne McKusick; two sons, Kenneth McKusick, and the Rev. Victor McKusick and his identical twin brother, Vincent.