September 2010 From the Director

David Valle

September 2010- Victor McKusick established the medical genetics program and clinic at Johns Hopkins in 1957, long before the internet existed. While Victor himself had been collecting careful notes on connective tissue disorders for a decade at that point, very little else was available in the form of medical case literature on genetic conditions.

To speed genetics research, he turned to a well-defined, closed population that kept meticulous genealogical records, the Amish of Lancaster County, Pennsylvania. Through interviews, patient exams and sifting through public records, Victor and his team amassed a huge amount of information about specific genetic diseases. This study eventually led to the publication of the Mendelian Inheritance of Man in 1966, which today exists as OMIM, the Online Mendelian Inheritance of Man.

OMIM continues to grow with our understanding of human genetic conditions, and has become an invaluable resource for everyone in the field. OMIM remains freely accessible and I welcome all to spend a minute perusing a few entries. You never know what you’ll learn.

Read on. And as always, I welcome your feedback.

David Valle, M.D.
Henry J. Knott Professor and Director
McKusick-Nathans Institute of Genetic Medicine