Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Scientists describe new approach for identifying genetic markers for common diseases

For Immediate Release – A group of researchers at The Scripps Research Institute and the Scripps Translational Science Institute has published a paper that reviews new strategies for identifying collections of rare genetic variations that reveal whether people are predisposed to developing common conditions like diabetes and cancer.

In our modern genetic age, the entire DNA sequences, or "genomes," of humans and thousands of other animals, plants, and microbial life forms have been completely decoded and are publicly available to scientists worldwide. One of the hopes now that this data is available is that scientists will be able to find genetic markers of diseases—particular bits of DNA that would identify someone as being at risk for developing a particular disease.

Knowing that a person has such a genetic predisposition could be a powerful tool for preventative medicine because, depending on the disease in question, there may be specific drugs or behavioral modifications like diet or exercise that doctors could prescribe to their patients early on to prevent or significantly lessen the impact of those diseases later in life.

Finding these genetic markers has proven to be difficult, however, and despite the fact that the human genome has been available to researchers for years, scientists have only discovered the underlying genetic determinants for about five to ten percent of the heritable component of most common human diseases.

"There's a long way to go," says Nicholas J. Schork, Ph.D., who is a professor at Scripps Research and director of biostatistics and bioinformatics at the Scripps Translational Science Institute. In the November 2010 issue of Nature Reviews Genetics, Schork and his colleagues outline new statistical strategies that may help to close the gap in the coming years.

Part of the problem, Schork says, is that most studies up to now have focused on identifying common genetic markers of diseases—those definitive DNA signatures that are unmistakably linked to diseases because they are shared by large groups of people who have those diseases.

Such investigations, typically referred to as "genome-wide association studies," use statistical algorithms to sift through DNA samples and pull out whatever common variations exist that exhibit signs of association with a condition. While powerful, these statistical methods may not shed light on many diseases, says Schork, because not all diseases have such definitive DNA signatures. Many of the most common diseases are more complex. They are associated with multiple genes and multiple environmental factors.

According to Schork, the key to identifying the genetic components of these complex diseases is not to focus on finding single common genetic signatures that people share—but rather to identify whole collections of rare genetic signatures, any one of which may indicate a predisposition toward a disease.

The situation is analogous to asking how someone from outside New York City could get to Times Square in Manhattan. There is no single answer to that question because there are any number of approaches and modes of transportation—from New Jersey, from Brooklyn, from Wall Street, or from the Bronx, and via plane, bus, train, taxi, ferry, bridge, tunnel, subway, or sidewalk.

Regardless of where they start or how they get there, it is possible for many people to wind up at exactly the same spot, though, and Schork says the same is true for many human diseases. There may not be one single genetic marker for many diseases, but multiple markers involving any number of genes, even among people who share the same disease.

Finding these rare signatures requires a great deal more scientific sleuthing, says Schork, and in their Nature Review Genetics article Schork and his colleagues suggest a new approach to discover all the possible combinations.

This approach will require collaborations between mathematicians and computer scientists, who have the skills needed to tease out these elusive genetic markers, and biologists who can shed light on what those genes do.

"Mathematics, statistics, and fancy computers alone won't do it," Schork says. "A much more integrative approach has to occur in order to make sense of DNA sequence data."

The article, "Statistical analysis strategies for association studies involving rare variants," is authored by Vikas Bansal, Ondrej Libiger, Ali Torkamani, and Nicholas J. Schork. It appears in the November issue of Nature Reviews Genetics. See

This work was funded by grants and support from the National Institutes of Health, the Price Foundation, Scripps Genomic Medicine, and Charles University.

About The Scripps Research Institute

The Scripps Research Institute is one of the world's largest independent, non-profit biomedical research organizations, at the forefront of basic biomedical science that seeks to comprehend the most fundamental processes of life. Scripps Research is internationally recognized for its discoveries in immunology, molecular and cellular biology, chemistry, neurosciences, autoimmune, cardiovascular, and infectious diseases, and synthetic vaccine development. An institution that evolved from the Scripps Metabolic Clinic founded by philanthropist Ellen Browning Scripps in 1924, Scripps Research currently employs approximately 3,000 scientists, postdoctoral fellows, scientific and other technicians, doctoral degree graduate students, and administrative and technical support personnel. Headquartered in La Jolla, California, the institute also includes Scripps Florida, whose researchers focus on basic biomedical science, drug discovery, and technology development. Scripps Florida is located in Jupiter, Florida. For more information, see

Mika Ono | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht First time-lapse footage of cell activity during limb regeneration
25.10.2016 | eLife

nachricht Phenotype at the push of a button
25.10.2016 | Institut für Pflanzenbiochemie

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Etching Microstructures with Lasers

Ultrafast lasers have introduced new possibilities in engraving ultrafine structures, and scientists are now also investigating how to use them to etch microstructures into thin glass. There are possible applications in analytics (lab on a chip) and especially in electronics and the consumer sector, where great interest has been shown.

This new method was born of a surprising phenomenon: irradiating glass in a particular way with an ultrafast laser has the effect of making the glass up to a...

Im Focus: Light-driven atomic rotations excite magnetic waves

Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion

Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Greater Range and Longer Lifetime

26.10.2016 | Power and Electrical Engineering

VDI presents International Bionic Award of the Schauenburg Foundation

26.10.2016 | Awards Funding

3-D-printed magnets

26.10.2016 | Power and Electrical Engineering

More VideoLinks >>>