The role of genetics in CF
To better understand the basics of genetic disorders such as CF, a brief overview of genetics will be helpful.
From the webinars of biologist Patrick Roisen, we learn that genes are a portion of our body's DNA. This genetic material, passed on by our parents, routinely determines our special traits such as the shape of our ear lobes, for example.
Through genotyping (genetic testing) scientists examine DNA to lock-down more specific details of a person’s hereditary make-up. Such testing allows for the diagnosis of genetic conditions such as CF.
In a video series with Dr. Peter Magazil, Director of Johns Hopkins CF Care Center in Baltimore, we learn more about this genetic condition. For example, we find out that CFTR gene mutations prevent the necessary movement of salt and water between the body's cells. As a result, CF adversely impacts all the body's mucus production.
Related studies have uncovered the defective gene G551D as the cause of Cystic Fibrosis.
Currently, more than 1700 mutations of the CFTR gene are known. Each mutated gene is classified into types according to its effect on the CFTR protein. This streamlined grouping makes it easier for physicians to access the information. It also assists researchers in developing studies for new treatment approaches for CF mutations, such as the rare biological group G542X.
It is hoped researchers can eventually solve the puzzle for preventing Cystic Fibrosis.