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 Heather Mefford to discuss her paper, “Biallelic loss-of-function variants in NUP188 cause a recognizable syndrome characterized by neurologic, ocular and cardiac abnormalities”. 1. What caused you to start working on... Read More
Congratulations to our winners and thank you all for participating. Happy DNA Day! Thank you for making this another successful year! We received many submissions from students in 39 U.S. states, and 28 non-U.S. countries. We would also like to thank the ASHG members who participated in judging the essays. Certificates/Essay Feedback: Participation certificates and... Read More
1st Place: Anisha Parsan, Grade 9 Teacher: Mr. Ricardo Garcia School: Clements High School Location: Sugar Land, TX In the past decade, genetic testing aimed at identifying ancestry has experienced exponential growth, with nearly 26 million tests sold since 2018 (6). Companies – such as 23andMe – offer kits to trace your genetic legacy and geographical origins using Y-chromosome, mitochondrial,... Read More
It’s National Volunteer Appreciation Week! It’s the perfect time to celebrate people doing extraordinary things through service. Established in 1974, National Volunteer Appreciation Week focuses on the power of volunteerism as an integral aspect of community leadership and membership. At a challenging time for public health and the genetics and genomics community, it is so... Read More
The COVID-19 pandemic has demanded a scientific call to action and researchers have responded in extraordinary ways. Collaborating across borders, disciplines and sectors, researchers pivoting to coronavirus research have generated and shared new knowledge and data with remarkable speed and openness. However, a barrier exists for scientists proposing to use human fetal tissue to investigate... Read More