Approved Research

Multiomics based gene discovery and functional characterization of rare neurological diseases

Lay summary

Over 300 million people around the world are affected by more than 7,000 rare diseases. Almost half of the rare genetic diseases that are known affect the nervous system, and most of these problems show up in children. Unfortunately, a large number of rare neurological disorders can't be diagnosed at the molecular level and can't be cured, leaving people with them severely disabled and with a poor quality of life. Genes contain the instructions that tell our bodies how to do different things. It is very important to understand how changes in a single gene and background factors can change the symptoms of a rare disease. One of the most important questions about rare genetic diseases is why some people with a  genetic change  don't get a neurological disease or only have mild symptoms. To find out the answers to these questions, we want to initiate this project. The goal is to use a multifaceted approach to find the genetic and other molecular changes that could explain how rare neurological disorders can manifest  in complex ways. We expect to complete the initial analysis for this  project in the next 2-3 years.

If the specific goals of this project are met, it is likely that it will be possible to find new genes or secondary modifiers that are involved in the cause of rare diseases. On a molecular level, we will be able to understand rare diseases better if we can connect the changes in genes to the symptoms we see. Also, looking at different biomarkers will help figure out how a change in gene function affects the way cells work and how they use energy. When the long-term goals of the project are met, it will be helpful for the health care community because a new set of genetic determinants will be used as the basis for better diagnosis, genetic counseling based on accurate information, and maybe even personalized treatment options.