Integrated genomics and cancer research

By: David Shifrin, PhD Life Science Consultant and Freelance Writer Data, obviously, is getting bigger. That has been the focus of articles on this blog, and in many ways defines the purpose of NextGxDx as a whole. For researchers, the power of multiple large, multi-faceted datasets is empowering; however, pulling useful (e.g., actionable) information from… Read More Integrated genomics and cancer research

Using genetics and brain imaging to investigate a developmental disorder

By: David Shifrin, PhD Life Science Consultant and Freelance Writer Prader-Willi Syndrome (PWS) is a genetic disease caused by imprinting. A deletion (or less commonly, mutations) in a region of the paternal copy of chromosome 15 combined with imprinting of the maternal copy, leads to loss of function of genes including SNRPN. This genetic form… Read More Using genetics and brain imaging to investigate a developmental disorder

The Lasker Award for Mary-Claire King: BRCA1 mutations and screening

By: David Shifrin, PhD Life Science Consultant and Freelance Writer In honor of Dr. Mary-Claire King winning the Lasker-Koshland Special Achievement Award in Medical Science “for bold, imaginative, and diverse contributions to medical science and human rights,” we’re going to take a look at her work and one of her signature accomplishments, the discovery of… Read More The Lasker Award for Mary-Claire King: BRCA1 mutations and screening

The NIH rolls out an overview and update to its Genome-Wide Association Studies Policy

By: David Shifrin, PhD Life Science Consultant and Freelance Writer Protecting sensitive patient information while providing useful human data to researchers is a complex process that must be carefully managed. Of course, government agencies and funding bodies are extremely concerned with patient confidentiality, and policies are continually under review as the volume and types of… Read More The NIH rolls out an overview and update to its Genome-Wide Association Studies Policy