Career Interview

Posted By: HGG Advances HGGA: What motivated you to start working on this project?  NG: Although monogenic genetic disorders are individually rare, collectively they affect up to 1 in 20 people in the global population. Over 700 monogenic disorders—including many inherited metabolic disorders, which I study and treat clinically—now have targeted treatments. As more therapies... Read More

Kritika Singh, BS, PhD Candidate Vanderbilt Genetic Institute, Vanderbilt University Medical Center Singh K, et al. Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization. 2021 Nature Communications 12, 4569. ASHG: Can you describe the type of research that has your primary focus? Kritika: My overarching research goals focus on understanding the shared biology of various... Read More

Albert Hinman, PhD, joined as the 2022-2023 ASHG/NHGRI Genetics & Public Policy Fellow in August. ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics & Public Policy Fellowship to give early-career professionals the opportunity to explore a career in science policy. We recently spoke with Dr. Hinman to learn more about how his background... Read More

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG What prompted you to start working on this project? A critical challenge in genomic medicine is developing insight into the underlying mechanisms that are responsible for association signals detected by genome-wide association studies (GWAS). One of the primary sources of motivation for this project was to harness... Read More

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Eugene (@DrGeneUK) to discuss his paper “Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders” What prompted you to start working on this project?... Read More