Process of DADA2, a genetic disease

We all have two copies of every gene. We get one from each parent. Sometimes, the genes we get from our parents have changes in them. Some changes can be good. They can improve the proteins they make. Other changes may cause the protein not to work well, or at all. ADA2 is a gene. It makes the adenosine deaminase 2 protein. Certain changes in the ADA2 gene can be harmful to the protein it makes. It can cause it not to work well. This may result in a disorder known as deficiency in adenosine deaminase 2, or DADA2. In DADA2, each copy of this gene from your parents has harmful changes. Not everybody with DADA2 has the same gene changes. But, they all cause the protein not to work well. This can lead to swelling in the body and the blood vessels. Other symptoms may include strokes, fevers, muscle pain, and areas of discolored skin. You may also have a larger liver or spleen, high blood pressure or fewer blood cells. Scientists at Vanderbilt will use BioVU to learn more about DADA2. They will first look for the number of people with DADA2 symptoms. Then, they will compare people with DADA2 symptoms and find out what gene changes they have. They will compare people with changes in the ADA2 gene. They hope to find a link between certain gene changes and symptoms. Their results will help us learn more about this disease. It may also help us learn more about what might cause certain symptoms. This could lead to better treatments for people with DADA2. It might also help us figure out who is at risk for the more serious symptoms.