Posted By: HGG Advances HGGA: What motivated you to start working on this project? JL: Numerous studies suggest red blood cell distribution width (RCDW) and mean corpuscular volume (MCV) are associated with known risk factors for hemorrhagic stroke. However, prior to our study, no causal link had been seen between these blood cell traits and... Read More
The American Society of Human Genetics (ASHG) today published a new Guidance on community engagement as a strategy to address underrepresentation in genomics research. Appearing in today’s issue of the American Journal of Human Genetics (AJHG), this new resource was developed by the Society’s Community Engagement Guidance Writing Group, comprised of members of the ASHG... Read More
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: Sara Cullinan, PhD, Deputy Editor, AJHG SC: What motivated you to start working on this project? HT: Finding faults within the DNA sequences and learning their associations with disease has always piqued my interest. Our lab studies the genomic basis of complex hematological syndromes and particularly the pathogenic effect of a genetic variant... 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