Current Research Projects

 

The Jack McGovern Coats’ Disease Foundation is proud to currently fund the following research projects:

University of Minnesota Twin Cities
This research project will focus on a potentially pathologic signaling pathway involved in a related condition, FEVR [familial exudative vitreoretinopathy], and similar in interest to previous research projects with Genentech.

Duke University
This research project focuses on using optical coherence tomography imaging in Coats’ Disease.

 

The Principal Investigators for each research project have been notified and will be awarded $25,000 each, based on the 2022 Research Grant Award Guidelines.

 


GENENTECH & COATS’ DISEASE

GENENTECH STUDY IS ANALYZING THE DNA OF OVER 150 SAMPLES OF COATS’ PATIENTS AND THEIR FAMILIES

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.

Thanks to our collaboration with Genentech, the Jack McGovern Coats’ Disease Foundation launched Phase One, helping 7 leading pediatric retina specialists collect DNA from confirmed Coats’ Disease patients. There were a total of 173 samples collected, 61 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’ Disease.

We are excited to be moving forward with Phase Two of this study.