Natural History Study of HNRNP - Related Genetic Disorders

Summary

We want to study patients with HNRNP-related disorders. We want to better understand their symptoms and health risks over time. This will help doctors provide better care. We'll look at different factors and test results to predict how the disease might progress. In Calgary, we'll focus on one specific syndrome but also gather data on other related disorders. Additionally, we'll collect samples to find markers that show how severe the disease is. Using the same information, we will be able to predict how the disease will develop. The other reason we are doing this study is because we want to learn more about what causes these disorders. For example, we'll see if different types of genetic changes affect how the disease affects people. We'll also study how the disease affects different parts of the body, which can help with future research. Finally, we'll try to find new disorders linked to these genes that we haven't seen before.