Looking for new gene-disease links

We are all born with gene changes. We get them from our parents. Most of them do not cause any problems. These gene changes are in all our cells. Most of these gene changes are tiny. They involve one change in a gene. Like a typo in a recipe. Most of the time, we can tell what a word is, even with a typo. But some gene changes are big. We may be missing part or all of a gene. Or more than one gene. This is like missing a whole sentence, or even a whole page. We may also have extra copies of one or more genes. The term for these bigger changes is copy number variation, or CNV. These often show up as something we can see. It may be a disease. Or it might affect the way we look, or think. Hemophilia is a blood clotting disease. Some people with this disease are missing a gene that makes a protein that helps clot your blood. Another example of a CNV is people with Down Syndrome. They have an extra copy of chromosome 21. While we know about some CNVs, there are lots we do not know. Scientists at Vanderbilt University Medical Center will use BioVU to study CNVs. They will look for any CNVs in BioVU. They will write down any links between CNVs and any diseases. They will also compare their notes to other studies. Sometimes the “typo” gene changes can cause the proteins they make not to work. These can also cause diseases. If someone is missing part or all of that same gene, they will be missing that protein. We expect both of these cases to have the same effect. And result in the same, or similar, disease. Last, they will use their results to help predict who might have a CNV based on things we can see. Their results will help us learn a lot more about CNVs. They will also share their results for other researchers to use. Their work could help us better treat some diseases. It might even help us prevent or delay some conditions.