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
Published: Wednesday, July 20, 2022, 10:00 a.m. U.S. Eastern Time Media Contact: Kara Flynn, 202.257.8424, press@ashg.org ROCKVILLE, MD – The American Society of Human Genetics (ASHG) has named Meow-Keong Thong, MD as the 2022 recipient of the Advocacy Award. Dr. Thong’s specialties are in Pediatrics and Clinical Genetics at the University of Malaya Medical Center in Kuala Lumpur,... Read More
Published: Wednesday, July 20, 2022, 10:00 a.m. U.S. Eastern Time Media Contact: Kara Flynn, 202.257.8424, press@ashg.org ROCKVILLE, MD – The American Society of Human Genetics (ASHG) has named David L. Nelson, PhD, as the 2022 recipient of the Victor A. McKusick Leadership Award. Dr. Nelson is Professor of Molecular and Human Genetics, Director of the Graduate Programs in... Read More