As we celebrate Rare Disease Day, I would like to bring attention to how rare disease research can help better understand more common conditions and how researching common conditions can help rare diseases. I will do that be using DRYK1A as an example. Today we know about the rare condition that is caused by having a change in the DYRK1A gene, we know this because of research that was done on common conditions. However we also have learned about a potential treatment of a common condition by doing research on this very rare condition.
The DRYK1A gene is located on chromosome 21 and if you are familiar with Down syndrome you might know that people with Down syndrome have 3 copies of chromosome 21 rather than the 2 they are supposed to have which also means they have 2 copies of the genes that are located on chromosome 21 including DYRK1A. Through researching the genes on chromosome 21, to better understand Down syndrome, they learned that DYRK1A gene is an important gene for the brain. (See The Article) In further research they learned that having too much of the gene or too little of the gene both had an effect on mice. There are a few other more common conditions that have led to a better understanding of the DYRK1A gene. Some research done on seizures & autism has provided some very important details of about this rare condition.
While we were learning about the affects of haploinsufficiency of the DYRK1A gene, researchers found a connections to diabetes in mice through decreased pancreatic beta cell mass. (See The Article) BTW haploinsufficiency in layman’s terms means both genes are needed to function properly but only one is working as it is needed which in turn causes symptoms. This research would further lead to more research that would identify a potential drug for type 1 diabetes. See this news article in Science Daily, Novel drug candidate regenerates pancreatic cells lost in diabetes.
You don’t need to fully understand all this research stuff to get the idea that researching rare diseases can help common diseases just as well as researching common diseases can help rare diseases. However the reality is that there is more money and more interest in researching common diseases.
To learn more about Rare Disease Day