Researchers from the Genotype-Tissue Expression (GTEx) Consortium, funded by the National Institutes of Health, have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives rise to an observable trait, like hair color or disease risk. This atlas is a critical resource for the scientific community interested in how individual genomic variation leads to biological differences across human tissues and cell types.
NIH's Undiagnosed Diseases Network (UDN) recently released five funding opportunities that continue research in improving the level of diagnosis and care for patients with undiagnosed diseases. Pending the availability of funds and sufficient applications, the program expects to create a coordinating center, 8-10 clinical sites and 3-6 core laboratories to focus on model organisms, DNA sequencing and metabolomics. To help potential applicants, UDN will hold an informational webinar on Sept. 14th, from 3:00-4:30 p.m. Eastern.
The National Institutes of Health (NIH) is awarding $18.9 million towards research that aims to accelerates the use of genome sequencing in clinical care. The new awards will generate innovative approaches and best practices to ensure that the effectiveness of genomic medicine can be applied to all individuals and groups, including diverse and underserved populations, and in healthcare settings that extend beyond academic medical centers.
The human genetics community needs protocols that enable secure sharing of genomic data from participants in genetic research. A paper published in the Journal of the American Medical Informatics Association compares three practical strategies to reduce the risk of re-identification - the process where anonymized personal genomic data can be matched with the true owner. The newest method uses advances in privacy technology based on cryptography, the mathematics of information.
Genomics and Society: Expanding the ELSI Universe, a three-day conference funded by NHGRI on the issues that spring from the ethical, legal and social implications of genomic research, will be held on June 5 - 7, 2017 by The Jackson Laboratory for Genomic Medicine and UConn Health. Presentations and workshops on topics ranging from the implications of genetic testing in the criminal justice system to the uses and potential misuses of CRISPR will be covered.