HUNTSVILLE, Ala. — Scientists in the Tennessee Valley are on a quest to diagnose rare diseases, and they're using a rare form of genetic testing to do it.
"In Alabama, we think there's about 400,000 people who have rare conditions," says Smith Family Clinic for Genomic Medicine Medical Director, & HudsonAlpha Faculty Investigator, Dr. David Bick.
Bick says at least 90% of people with rare conditions don't have an FDA-approved drug.
Scientists are using what's called "whole genome sequencing" to find a diagnoses.
There are about 20,000 genes in humans. And with this technology, this technique with "whole genome sequencing" we can look at all of them at once. What our software allows us to do is it will show us those DNA changes which are potentially deleterious," says Bick.
Smith Family Clinic & HudsonAlpha Certified Genetic Counselor Meagan Cochran says "whole genome sequencing" was a last resort, but overtime this simple test requiring blood samples, have become more affordable.
However, scientists say there is a lack of diversity for whole genome sequencing. The database is built largely on people with European descent.
"By engaging with more individuals with more diverse backgrounds, and building up those databases then when we do have a patient who is suspected of having a very rare disease, it makes it easier for the lab to sort through," says, Cochran.
Scientists say there's a lot of work to be done, and that people are aware of rare diseases.
"And that's the importance of 'Rare Disease Day" is to appreciate that rare diseases are not rare as a group," says Bick.
HudsonAlpha is hosting a virtual 5K for childhood genetic disorder research. Click here to help.