On Tuesday, Dr. Victor A. McKusick, the Johns Hopkins University physician who has brought an undeniable contribution to medical genetics, died in his Baltimore home at the age of 86.

Dr. Edward D. Miller, dean of the Johns Hopkins medical faculty and chief executive of Johns Hopkins Medicine, said a legend was lost on Tuesday and that "his influence and legacy reach around the world."

Dr. Victor McKusick started off as a cardiologist and focused on heart murmurs. With the help of acoustic spectography technology provided by the Bell Telephone Laboratory, he managed to make up descriptions of these sounds better than anyone had done before.

Because of one special case however, his career took a decisive turn; when he met a patient suffering from the Marfan syndrome, which affects the connective tissue, he decided to thoroughly study the condition.

Eventually, after many years of continuous examinations and studies, he managed to isolate the gene to which the condition was due; in a paper he issued back in 1991, he refers to the gene as FBN-1. The results of his studies were very useful to other researchers who were and still are working on ways to cure the disorder.

Victor McKusick also found a way to identify the genes which cause the inheritance of physical abnormalities, like achondroplasia for instance. To show their appreciation, those enrolled in the Little People of America group decided to make the doctor an honorary member.

He made records of all the genes he had identified and, in 1966, brought them all together in his book Mendelian Inheritance in Man. In 1998, the 12th edition of the book had jumped from 1,800 to 12,000 genes.

Dr. Victor McKusick and his work will always be remembered.