Posted By: HGG Advances HGGA: What motivated you to start working on this project? SM: Working with the Vanderbilt University Undiagnosed Diseases Network (UDN) team during my PhD demonstrated the critical need for better approaches to variant interpretation in rare diseases. And even after a candidate gene and variant are identified, I observed that the... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? EJ: I wanted to obtain further insights into the genetics of the Greenlandic population, as it is a genetically unique and understudied population. Specifically, we sought to look further into a range of cardiometabolic phenotypes. The end goal was to improve... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? NU: Despite being first described over 100 years ago, mutations underlying hepatic hemangiomas (HHs) had not been identified. Mutations associated with cutaneous venous malformations (CVMs) have been found, but a significant proportion still have no genetic explanation. We also found it... Read More