Precision Genomics Collaboratory News

The National Organization for Rare Disorders (NORD) has designated the Duke Health Rare Disease Center as a NORD Rare Disease Center of Excellence, joining a highly select group of 31 medical centers, nationwide, as part of an innovative network seeking to expand access and advance care and research for rare disease patients in the United States.

A Q&A with Nobel Laureate Jennifer Doudna

The American Society of Human Genetics (ASHG) is a professional organization for researchers and clinicians who specialize in human genetics. They work to advance human genetics and genomics in science, healthy and society through research, education and advocacy. The ASHG Annual Meeting was held October 18-22, and several members of the Precision Genomics Collaboratory presented their research:

Hilmar Lapp is part of an interdisciplinary, multi-institutional collaboration led by Ohio State that will establish a new field of study called “imageomics” that has the potential to transform biomedical, agriculture and basic biological science.

This issue includes:

• Messages from Director Svati Shah and Co-Director Doug Marchuk
• Funding Opportunities from the Collaboratory and around Duke

• News updates from the genomics community

• Featured publications

• Upcoming events, including some big event announcements from the Collaboratory

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The IGVF Consortium will bring investigators together in a highly collaborative effort to examine how genomes function, how genome function shapes phenotypes, and how these processes are influenced by genomic variation.

The German National Academy of Sciences Leopoldina comprises 1,600 Academy members from over 30 countries, all researchers with outstanding expertise in their respective fields.

Protein might dramatically boost recovery after an ICU stay, but clinicians are just learning how to study its effects.

The award is given annually to an individual who has established an outstanding mycological career and is one of the highest awards bestowed by the MSA. Mycology is the branch of biology concerned with the study of fungi.

Lauren Truby is a fellow in cardiovascular disease at Duke University Medical Center. She is the lead author of a new publication that uses proteomic profiling to identify a specific protein as a biomarker of primary graft dysfunction after a heart transplant.