Talking Glossary of Genetic Terms
Alan E. Guttmacher, M.D. defines Syndrome
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
A syndrome is really a collection of traits or distinctive features that run together. In fact, that's the origin for the term, is from the Greek "syn", for "together", and "drome", for "run". So this is a collection of findings that you tend to see in a number of individuals who otherwise aren't related. Most syndromes are named after the physician who first noticed them in people. So that, for instance, Down syndrome is a condition that was first noticed by a Dr. Down. Marfan syndrome is a condition that was first noticed by a Dr. Marfan. There are a whole list of these, or really hundreds and hundreds of syndromes have been described mostly over the last 150 years or so in medicine, and often named after the individual who first noted that these traits tended to run together.
Name: Alan E. Guttmacher, M.D.
Occupation: Former Acting Director, National Human Genome Research Institute
Biography: Dr. Alan Guttmacher is the former acting director of the National Human Genome Research Institute, helping oversee the institute's efforts in advancing genome research, integrating the benefits of genome research into healthcare, and exploring the ethical, legal and social implications of human genomics. Dr. Guttmacher received his M.D. from Harvard Medical School in 1981. From 1982 to 1985, he completed an internship and residency in pediatrics at Children's Hospital Boston. In 1985, he earned a two-year National Research Service Award from the US Public Health Service as a fellow in medical genetics at Children's Hospital Boston and Harvard Medical School.