Precision Genomics Collaboratory News

Experts at Duke Health were among a multi-national team involved in treating a fetus for infantile-onset Pompe disease using an enzyme replacement therapy – a first in the world.

In the battle of the sexes, women beat men in their ability to recover from kidney injury, but the reasons are not well understood.

The Duke Center for Combinatorial Gene Regulation (CCGR), an NHGRI Center of Excellence in Genome Sciences (CEGS), hosted the annual CEGS meeting October 18-20.

The Duke University School of Medicine Office of Biomedical and Graduate Education (OBGE) and Precision Genomics Collaboratory awarded 8 pilot grants of $2,000 each to SOM Biomedical PhD students. The goal of these grants is to support our students in scientific and educational efforts to bolster their graduate training experiences. These awards will help further research in a broad array of topics including into diseases like breast cancer, glioblastoma, meningitis, and more. Funds will also go towards researching topics like gene and chromatin regulation and studying organoid models.

Bruce Donald and colleagues developed RESISTOR, an algorithm that uses protein structure-based computational design to predict how mutations in an enzyme will affect a drug’s efficacy. This technology could provide drug designers with insights to design better, more durable, proactive drugs.

Lawrence David was among 25 recipients awarded 2022 Science Diversity Leadership Awards from the Chan Zuckerberg Initiative.

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.