ASHG News

1st Place: Jennifer Zhong, Grade 12 Teacher: Ms. Maria Zeitlin School: Smithtown High School East Location: Saint James, New York “One humanity, many genomes” captures the essence of the human species. While we are all united under a shared genetic structure, our remarkably diverse genomes greatly impact our lives, allowing us to become phenotypically different as well as have different predispositions... Read More

Congratulations to our winners and thank you to all who participated. Happy DNA Day! 2023 Question In 2023, The American Society of Human Genetics celebrates its 75th anniversary! We want to kick off the festivities with you, the next generation of human geneticists. The theme of our celebrations is “One Humanity, Many Genomes™.” In your... Read More

Posted By: HGG Advances HGGA: What motivated you to start working on this project? DC: I have a long-standing interest in studying variant effects on gene expression and protein function and in unravelling the molecular mechanisms of disease-associated variants. As part of my PhD project, I developed the SpliceAI-10k calculator, a SpliceAI-based splicing prediction tool... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? SI: Ossification of the posterior longitudinal ligament of the spine (OPLL) is an intractable disease that causes spinal canal stenosis leading to myelopathy and/or radiculopathy. OPLL is a common disease. Its prevalence is more than 2% in... Read More

ASHG honors excellence in research conducted by predoctoral and postdoctoral trainees (including genetic counseling trainees) through merit-based awards that recognize highly competitive abstracts submitted and presented at the ASHG Annual Meeting. Currently, the total value of ASHG’s Trainee Research Excellence Award is approximately $70,000 annually. Formerly known as the Charles J. Epstein Trainee Research Awards.... Read More