Realizing the benefits of human genetics and genomics research for people everywhere.
Posted By: Krystal Tsosie, MPH, MA, 2019-21 Human Genetics Scholar As an ASHG Human Genetics Scholars Initiative awardee, I want to thank the Society for enabling my international research endeavors to connect globally with Indigenous scholars. I was invited to present at the SING Indigenous Genomics conference at the University of Waikato in New Zealand... Read More
Nascent Transcript Author: Anna Miller A recent decision by the pharmaceutical company Novartis to provide 100 free gene therapy treatments for spinal muscular atrophy (SMA), a debilitating yet rare genetic condition, to patients selected through a lottery program has sparked debate about the ethical implications. SMA is a rare autosomal recessive genetic disorder caused by... Read More
Nascent Transcript Author: Nicole Ferraro Direct-to-consumer (DTC) genetic testing has allowed millions to directly interact with their genetic data and test results. This presents largely uncharted avenues in which our work as geneticists interacts with the public. A recent example involved a genome-wide association study1 that produced a polygenic risk score explaining <1% of variance... Read More
Nascent Transcript Writer: Jeff Calhoun Due to the reduced cost of next-generation sequencing and the demonstrated utility of genetic diagnoses, more and more individuals are having their genes, exomes, and even genomes sequenced in a clinical setting. This testing ranges widely from gene panels to identify cancer subtypes, to array Comparative Genomic Hybridization to identify... Read More
Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG 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 Mark McCarthy (@markmccarthyoxf) to discuss his paper “A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models... Read More