Many diseases in the human body result from changes in our DNA, and follow patterns of transmission from parent to offspring known as Mendelian genetics. Gregor Mendel was the Austrian monk who studied genetics in plants and realized that some genes are transmitted in a dominant or recessive fashion. Since that time, other forms or patterns of transmission have been discovered including sex-linked, and mitochondrial DNA patterns.
Coats’ Disease is much more difficult to study because it follows NONE of these patterns! For instance, even though doctors know that Coats’ Disease happens far more often in males than females, a gene on the XY chromosome has not been found. There has never been a large study looking for possible genetic reasons in a large population of individuals. The reason for this is due to how rare Coats’ Disease is compared to other diseases like diabetes or macular degeneration. The other reason is that Coats’ can sometimes be confused for other pediatric diseases.
For the first time, via a collaboration with Genentech, the Jack McGovern Coats’ Disease Foundation is helping 7 leading pediatric retina specialists collect DNA from confirmed Coats’ Disease patients. There were a total of 105 samples collected, 36 of those being from Coats’ patients, with parents and siblings DNA collected if available. Genentech, as part of their commitment to rare diseases research, is analyzing the entire DNA code also known as genome for any possible Coats’ associations. This is what many would consider the first step in understanding Coats’.