Genetics of neurofibromatosis

Genetics of Neurofibromatosis

What is Neurofibromatosis?

Neurofibromatosis Type 1 (NF1) is a condition that someone can be born with and it makes lumps or non-cancer tumors grow on nerves. These tumors can be seen on or under the skin. It
can also cause damage to the skin, eyes, bones, and other organs. However, each person that has NF1 can have a different set of these symptoms. There is no cure for NF1 right now, but there are treatments available to help manage the symptoms. It’s important for people with (NF1) to see a doctor regularly and to discuss any concerns they have with their doctor.

How is the research done?

Researchers at Vanderbilt use BioVU resources to learn more about NF1. They studied DNA from people with Neurofibromatosis to look at their genes. This will help them find specific differences in genes that might be linked to this condition or other health conditions related to NF1. They also looked at the electronic health records to see how the sets of symptoms that NF1 patients have changed over time. By doing this, the study team may find causes of Neurofibromatosis and discover how it affects different people.

What is the importance of this study?

The primary goal of the study is to learn more about NF1 by studying how it affects people’s bodies. Researchers hope to find out more about how the disease progresses over time, and what conditions are related to it. They can learn how to make special treatments for people who have NF1 by doing this and will help them feel better.