Glossary A Glossary of Genetic Terms. This child turned out to have San Flippo Syndrome. This is a MPS Storage Disorder. The information from all the genes, taken together, makes up the blueprint or plan for the human body and its functions. A gene is a short segment of DNA which is interpreted by the body as a plan or template for building a specific protein.
Genes reside within long strands of DNA which in turn make up the chromosomes.
Some diseases, such as sickle cell anemia, can be caused by a change in a single gene. How to Conquer a Genetic Disease Information on the prevention and treatment of genetic diseases. It takes its name from Charles Hunter, the professor of Medicine in Manitoba, Canada who first described two brothers with the disorder in 1977. Some think there are two distinct types of the condition, the mild and the severe. In 1962, Dr. Scheie, a consultant ophthalmologist, wrote about some of his patients who were more mildly affected.