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10 results for rare diseases
Public Health Approach to Big Data in the Age of Genomics: How Can we Separate Signal from Noise?
The term Big Data is used to describe massive volumes of both structured and unstructured data that is so large and complex it is difficult to process and analyze. Examples of big data include the following: diagnostic medical imaging, DNA sequencing and other molecular technologies, environmental exposures, behavioral factors, financial transactions, geographic information & social
Posted on by 1 CommentOutsmarting Antimicrobial-Resistant Pathogens
The evolution of antibiotic resistance in bacteria is occurring at an alarming rate and is outpacing the development of new countermeasures. —White House Office of Science and Technology Policy, September 18, 2014 In the contest between humans and pathogens, each faction has an evolutionary advantage: we have the brains to plot antimicrobial strategies but they
Posted on byEpigenetics and Public Health: Why We Should Pay Attention
In September 2014, one of us (MJK) spoke on the topic of epigenetics at the Annual Meeting of the Association for State and Territorial Health Officials (ASTHO). ASTHO is a national organization representing public health agencies in the United States. ASTHO members formulate and influence public health policy and practice. In the midst of a
Posted on byIs Genomics Widening the Schism Between Medicine and Public Health?
In 2007, we published a paper entitled: “Will genomics heal or widen the schism between medicine and public health?” We explored the long standing split between medicine and public health and how the emergence of genomics and other technologies can affect it. The “schism” was identified by Kerr White in his 1991 book in which
Posted on by 1 CommentNobody is average but what to do about it? The challenge of individualized disease prevention based on genomics
Each week, Garrison Keillor shares with National Public Radio listeners the latest news from Lake Wobegon where “all the women are strong, all the men are good looking, and all the children are above average.” The concept of “average” is deeply rooted in our scientific analysis of all health related traits such as height,
Posted on byReconciling the future of genomic medicine with its current reality: how do we get there from here?
On March 5-6, 2014, I attended the 7th annual Future of Genomic Medicine (FoGM) conference [PDF 778.13 KB], hosted by Dr. Eric Topol at the Scripps Translational Science Institute. The audience included more than 500 participants from various fields including genomics, clinical medicine, laboratory medicine, industry, economics, social and communication sciences, patients and the press.
Posted on byWhen Should We All Have Our Genomes Sequenced?
Recently, George Church, a prominent genomics researcher and leader of the Personal Genome Project asked why so few people are opting to inspect their genome. The cost and accuracy of genome sequencing have certainly improved dramatically. He clearly sees the health benefits of whole genome sequencing. He states “we should avoid being judgmental of people
Posted on by 2 CommentsPublic Health Genomics in Action: Reducing Morbidity and Mortality from Familial Hypercholesterolemia
In September, 2013, I participated in the International Familial Hypercholesterolemia (FH) Summit in Annapolis, Maryland. The event was sponsored by the FH Foundation, a patient-centered organization formed in 2011 to raise awareness about the condition and to develop actions for saving lives of patients and families with FH. The meeting brought together, from the US
Posted on byPublic Health Impact of Genome-Wide Association Studies: Glass Half Full or Half Empty?
Genome-wide association studies (or GWAS) are large-scale genetic investigations of human disease that measure simultaneously hundreds of thousands of genetic variants scattered throughout the human genome. GWAS burst onto the scientific scene in the mid 2000’s. Propelled by technological advances and falling prices, GWAS have revolutionized the search for genetic influences on common diseases of
Posted on byOn Spinning Wheels and Genomes Revealed:
Sequencing is No Longer a Sleeping Controversy In the classic Disney version of the fairy tale, Sleeping Beauty is hidden in the woods to protect her from the knowledge of an evil curse… but when she later pricks her finger on a spinning wheel, she falls under a fairy’s spell… Unlike the mythical magic of
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