Genetics
Genes act as the body’s blueprints, carrying instructions that are passed from one generation to the next. In the Ehlers-Danlos syndromes, genetic mutations have been identified in 13 different subtypes. For hypermobile EDS (hEDS), however, the role of genetic mutations remain unknown, and research in our lab and around the world are actively working to identify them.
Family Genetics
We are using whole exome sequencing (WES) to understand genetic changes that contribute to hEDS within families that have enrolled in our hEDS registry. By studying the genetic makeup of affected individuals as well as their unaffected relatives, we aim to identify key genetic changes and pathways that can improve diagnosis and treatment.
Population Genetics
To understand common genetic variants associated with hEDS, we are working on genome wide association studies (GWAS) using genetic samples from our hEDS registry. Through GWAS, we aim to identify specific genetic markers that play a role in hEDS, and specific variants that play a role in different EDS phenotypes and comorbidities. Similar to our family genetic studies, this data with help to improve our understanding of the disease, with the goal of developing better diagnostic tools and therapies.