Genomics, HIPAA and Informed Consent
Andy Warhol talked about the fifteen minutes of fame of the future in 1968 and this quote captured everyone’s attention coming back again and again in a variety of forms and fashions. Those of us that work in health care and genomics can be just as captivated by the value of anonymity and privacy.
Patients and families turn to genomic medicine to treat cancer
Most of us probably associate being sick with the entire body- a fever, aches, chills and other broad symptoms. When it comes to a disease like cancer, we might take an organizational step or two down to think of a specific organ or tissue: breast, lung or brain cancer.
But increasingly, patient’s stories point clearly toward a finer resolution of cancer diagnosis, down to the level of a single gene. A report in the New York Times last week describes how a team of researchers worked to identify the genetic aberration underlying a colleague’s cancer, and helped treat his leukemia with an off-label drug currently used to treat kidney cancers.
Integrative approaches identify molecular component essential for pumping calcium into mitochondria
Mammalian lung mitochondria, from Wikimedia Commons
A mysterious pump transports calcium ions across the mitochondrial membrane inside cells, literally controlling every breath we take and every move we make. This ‘calcium uniporter’ drives energy fluxes by controlling the rate of the Krebs cycle. For decades, scientists have researched the physics and kinetics of this molecular transporter, but never managed to assign a genetic identity to the functions they so extensively studied. At the end of a 50-year search, Vamsi Mootha and colleagues finally pinned a gene to the elusive transporter, thanks to some ingenious data sleuthing and classical molecular biology.
Growing evidence suggests gene variants may influence the outcome of bariatric surgery
Most people looking to shed a few pounds turn to alternatives like drinking less soda or taking the stairs at work. But for those beyond the reach of dietary and lifestyle intervention, gastric surgery is often the only viable option that presents itself. From 1998 to 2005, the number of weight-loss operations performed in the United States alone rose more than 8-fold, from about 12,000 cases to over 110,000.
There are already several studies that identify so-called ‘fat genes’, or genetic variants linked to obesity and related disorders. Recently, three research groups also published genome-wide association studies (GWAS) identifying obesity-related associations in subjects undergoing some form of gastric surgery* .
If you’ve looked at our NextBio Publications page lately, you’ve probably noticed that the list of publications from authors who have used NextBio to make novel connections is growing at a steady pace. To this, we add a publication from the Scientific and Computational Biology group at NextBio itself:
Ontology-Based Meta-Analysis of Global Collections of High-Throughput Public Data
Ilya Kupershmidt, Qiaojuan Jane Su, Anoop Grewal, Suman Sundaresh, Inbal Halperin, James Flynn, Mamatha Shekar, Helen Wang, Jenny Park, Wenwu Cui, Gregory D. Wall, Robert Wisotzkey, Satnam Alag, Saeid Akhtari, Mostafa Ronaghi
PLoS ONE 5(9): e13066. doi:10.1371/journal.pone.0013066
In this article, we explain our processes for data curation and the computational methods by which signatures are compared in NextBio to yield novel findings. We also include four use cases that illustrate how this all comes together for the purpose of investigating brown preadipocytes and brown fat lineage. We hope you find the paper illustrative of how you can apply NextBio’s platform to discovery in your area of research. And don’t forget to include this publication in your citation when you make novel discoveries using NextBio.