Along with a few of my family members, I am enrolled in a clinical research study with the National Institutes of Health. The protocol is entitled “Clinical and Molecular Manifestations of Inherited Neurological Disorders.”
We decided to participate for two reasons. First, our family has an autosomal dominant neurodegenerative disorder which seems to elude a diagnosis. It spans at least three generations, and family members have a 50/50 chance of inheriting the disorder, which means we have both affected and unaffected people in our bunch. We have been tested for many conditions (with a concentration on the testable spinocerebellar ataxia types and also for the more common types of hereditary spastic paraparesis), all to no avail.
The second reason for participating is that we would like to help advance medical research and education. It is my hope that future genetics classes in secondary schools will cover much more than the X and Y chromosomes, eye color, and the work of Gregor Mendel.