Precision Genomics Collaboratory News

The ASHG annual meeting is the largest human genetics and genomics meeting and exposition in the world. It provides a forum for presenting and discussing cutting-edge science in all areas of human genetics.

Duke researchers are using genome sequencing to analyze the genetic makeup of SARS-Cov-2 for specific mutations and variants. The relevant findings have guided Duke’s administration as they develop the University's COVID-19 policies.

People commonly associate heart attacks with clogged arteries, fatty diets, high cholesterol, and plaque buildup in the heart. And while all those things can cause sudden cardiac death, they are not the only culprit; gene mutations can also be to blame.

Certain genetic variants can cause irregular heart rhythms, called arrythmias, and can affect how well the heart is able to pump blood to the rest of the body. Otherwise healthy individuals with these genetic variants can fall victim to arrythmias that are often fatal.

As federal funding sunsets for the Undiagnosed Diseases Network, teaching hospitals seek creative ways to continue its innovative approach to diagnosing the most difficult cases.

Before breakthrough research at Duke led to the first FDA-approved treatment in 2006, infants diagnosed with Pompe disease rarely survived more than a year or two. Now many are growing up and thriving. Under the leadership of Priya Kishanani, MD, Duke is continuing to explore new approaches that will give life and hope to even more families.

A biotech startup with ties to Duke University is expanding after closing a $7.5 million raise.

Amy Goldberg’s passion for human evolution probably started with the genetic anthropology books her father poured over during his Ph.D. studies.

Duke Health leadership launched Translating Duke Health in 2017 as a multi-disciplinary, multi-year commitment to capitalize on Duke’s collective strengths in research, clinical care, and popul

Noncoding RNAs are proving to be critical players in the evolution of brain anatomy and cognitive complexity.

Makenzie Beaman, a pediatric scientist in training in the Medical Science Training Program (MSTP), was selected for the best fellow platform presentation award at the 43rd Annual David W. Smith Workshop on Malformations and Morphogenesis on August 23. 

Out of the 64 fellows and medical genetics residents and fellows in the workshop, 13 were selected to give platform presentations. Beaman and one other were selected as the co-best presentation.