Features | Partner Sites | Information | LinkXpress
Sign In
GLOBETECH PUBLISHING
PZ HTL SA
GLOBETECH PUBLISHING

EMRs Could Help Discover New Disease Associations

By BiotechDaily International staff writers
Posted on 10 Dec 2013
A new study is repurposing genetic data and electronic medical records (EMRs) to perform a large-scale validation of known disease associations.

Researchers at Vanderbilt University Medical Center (Vanderbilt, Nashville, TN, USA) and other institutions participating in the phenome-wide association study (PheWAS) used genotype data from 13,835 individuals of European descent, exhibiting 1,358 diseases collectively. The team then ran PheWAS on 3,144 single-nucleotide polymorphisms (SNPs), checking each SNP association with each of the 1,358 disease phenotypes. The researchers thus succeeded in identifying 63 previously unknown SNP-disease associations, the strongest of which related to skin diseases.

The researchers also created an online PheWAS catalog that may help understand the influence of many common genetic variants on human conditions. The researchers stressed that PheWAS would be unworkable without the eMERGE Network, of which Vanderbilt is the coordinating center. The network has expanded to nine sites with DNA samples from about 51,000 individuals linked to EMRs. The eMERGE Network is funded by the US National Human Genome Research Institute (Bethesda, MD, USA). The study was published on November 24, 2013, in Nature Biotechnology.

“This study broadly shows that we can take decades of off-the-shelf electronic medical record data, link them to DNA, and quickly validate known associations across hundreds of previous studies; at the same time, we can discover many new associations,” said lead author Josh Denny, MD, MSc, an associate professor of biomedical informatics and medicine. “Our method does not select any particular disease; it searches simultaneously for more than a thousand diseases. By doing this, we were able to show some genes that are associated several diseases or traits, while others are not.”

“If you think about the way genetic research has been done for the last 50 years or more, a lot of it was done through carefully planned clinical trials or observational cohorts,” added Dr. Denny. “This certainly does not supplant those in any way but provides a cost efficient, systematic method to look at many different diseases over time in a way that you really can't do easily with an observational cohort.”

Related Links:

Vanderbilt University Medical Center
eMERGE Network
US National Human Genome Research Institute



Channels

Genomics/Proteomics

view channel
Image: The TheraCyte cell encapsulation device (Photo courtesy of TheraCyte, Inc.).

Encapsulated Human-Insulin-Producing Progenitor Cells Cure Diabetes in Mouse Model

A breakthrough system that allows subcutaneous implantation of encapsulated immature pancreatic cells (beta progenitor cells) was shown to produce enough insulin to correct the symptoms of diabetes in a mouse model.... Read more

Drug Discovery

view channel

Retinoic Acid Prevents Precancerous Breast Cells from Progressing to Full-Blown Cancer

Retinoic acid, a derivative of vitamin A, was found to prevent pre-cancerous breast cells from progressing to full-blown cancer but did not have any effect on breast tumor cells. Investigators at Thomas Jefferson University (Philadelphia, PA, USA) worked with a novel breast cancer model that had been developed by treating... Read more

Biochemistry

view channel

Mitochondrial Cause of Aging Can Be Reversed

Researchers have found a cause of aging in lab animals that can be reversed, possibly providing an avenue for new treatments for age-related diseases including type 2 diabetes, cancer, muscle wasting, and inflammatory diseases. The researchers plan to begin human trials late 2014. The study, which was published December... Read more

Therapeutics

view channel

Cytokine Identified That Causes Mucositis in Cancer Therapy Patients

The action of the cytokine interleukin 1-beta (IL-1beta) has been found to underlie the onset of mucositis, a common, severe side effect of chemotherapy and irradiation of cancer patients. Mucositis occurs as a result of cell death in reaction to chemo- or radiotherapy. The mucosal lining of the mouth becomes thin, may... Read more

Business

view channel

Analytical Sciences Trade Fair Declared a Rousing Success

Organizers of this year's 24th "analytica" biosciences trade fair have reported significant increases in both the number of visitors and exhibitors compared to the 2012 event. The analytica trade fair for laboratory technology, analysis, and biotechnology has been held at the Munich (Germany) Trade Fair Center every... Read more
 
Copyright © 2000-2014 Globetech Media. All rights reserved.