In biomedical research, “precision medicine” is the buzz-word or phrase du jour permeating the latest conference abstracts, manuscripts, and grant proposals. Precision medicine is broadly defined as using a data-driven approach to offer tailored treatments or prevention strategies to patients. The recent popularity of the precision medicine term is likely due to the 2015 White […]
The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today.The Paediatric Task Team of the Global Alliance for Genomics and Health’s Regulatory and Ethics Working Group reviewed current understanding and concerns regarding the […]
We are well into 2017, and I have yet to post an update on the lab’s accomplishments as of the end of 2016. If you were a human being like the rest of us living in 2016, you probably feel the same as many of us about that year. It was a year very much […]
We have a trio of open faculty positions available here at CWRU. The positions are within the Department of Epidemiology and Biostatistics, with some having the opportunity for an additional appointment in the Institute of Computational Biology: Tenure-Track/Tenured Faculty with Expertise in Biomedical Data Science Tenure-Track/Tenured Faculty Position in Cancer Epidemiology Director of the MPH […]
This year’s American Society of Human Genetics (ASHG) was held—where else?—in Vancouver, Canada! Our northern neighbors invited human geneticists far and wide for five days of presentations, networking, and some scientific fun. Of course, I hardly ever pass up the opportunity to attend this meeting. As I have written before, ASHG is a great place […]
It has been a few months since my last post, so you might be asking, “Girl, what have you been up to lately?” Well, let me tell you…. The fall semester is always crazy busy. Classes begin. Our annual symposium is in full swing. And, the conferences. So many conferences. One unexpected meeting to hit […]
Hi Dana! Testing…
As I alluded in my previous post, I was invited to give talks at two prestigious meetings this year. The second meeting was the Gordon Research Conference Human Single Nucleotide Polymorphisms & Disease conference “Understanding the Mechanisms of Variant Effects in the Era of Genome Sequencing” held at Mount Holyoke College in South Hadley, Massachusetts […]
Recent studies indicate that mitochondrial proteins may contribute to the pathogenesis of primary open-angle glaucoma (POAG). In this study, we examined the association between POAG and common variations in gene-encoding mitochondrial proteins.We examined genetic data from 3430 POAG cases and 3108 controls derived from the combination of the GLAUGEN and NEIGHBOR studies. We constructed biological-system […]
The importance of epistasis-or statistical interactions between genetic variants-to the development of complex disease in humans has been controversial. Genome-wide association studies of statistical interactions influencing human traits have recently become computationally feasible and have identified many putative interactions. However, statistical models used to detect interactions can be confounded, which makes it difficult to be […]
Primary open angle glaucoma (POAG) is a complex disease and is one of the major leading causes of blindness worldwide. Genome-wide association studies have successfully identified several common variants associated with glaucoma; however, most of these variants only explain a small proportion of the genetic risk. Apart from the standard approach to identify main effects […]
A successful season came to a close last night when the ICB-sponsored Away Team beat their arch nemesis Senior Tequila softball team 5-4 and 10-9 (in extra innings!) in a playoff double header. The Cavs have nothing on us! Go Away!!