Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Packard scientists announce first international gene search for typical ALS

18.05.2006
Million dollar study is an international collaboration supported by government, top ALS organizations

Though it’s the more common form of the disease, sporadic ALS, which affects roughly 90 percent of those living with the fatal neurodegenerative illness, has been the one less studied, simply because, unlike familial ALS, no genes have turned up.

This week, however Bryan Traynor, M.D. and John Hardy, Ph.D., scientist-grantees with the Packard Center for ALS Research at Johns Hopkins, are beginning the first in-depth screening for genes that underlie the "spontaneous" illness, which, like all ALS, destroys the motor neurons that enable movement, including breathing.

Hardy and Traynor are researchers in the National Institute on Aging’s Laboratory of Neurogenetics in Bethesda, Maryland. Traynor also is a faculty member with the Johns Hopkins School of Medicine.

"In the forest of exciting research that’s going on in ALS," says Packard Director, Jeffrey Rothstein, "this is a tall tree. We’ve been waiting some time for this one."

If all goes well, Traynor says, the work will clarify the role of genes - or lack of it - in sporadic ALS. "That role," he adds, "has long been uncertain. We don’t know, for example, if sALS is triggered by a handful of interacting genes or genes plus environment or environment alone. The study aims to clarify that."

The results could strongly shape the search for a cure.

Supported by The Packard Center, the ALS Association and the National Institute for Neurological Disease and Stroke, the investigation stands out for several reasons: it’s large enough for trustworthy results, involving close to 1,200 ALS patients and healthy controls. It brings in international scope: half of the study focuses on Italian populations. But most important, its razor-sharp technology - a high-throughput variety that uses robotics and just-available gene finder chips - mines each patient’s DNA for information with a speed and accuracy not possible even a year ago. The research should be completed and data interpreted, the scientists say, early next year.

As a plus for ALS researchers worldwide, the raw DNA-based data from the study will quickly be made available online. Scientists expanding the study can add their data, improving accuracy of future research.

Why hasn’t such a study gone on before? "Simply put, the technology wasn’t available," Traynor explains. The research - known scientifically as a high-resolution genome-wide association study - relies upon spotting unusual patterns in patients’ DNA (they’re associated with having the disease) that healthy controls don’t have or have far less frequently.

The patterns are sets of small variations in the order of the several billion bases that make up human DNA. Everyone has variations, known as single nucleotide polymorphisms, or SNPs (snips). Snips are useful because they can serve as signposts for the real quarry - disease-related genes. They’re something like having a few different-colored beads on an otherwise-white necklace. If, say, the red bead always shows up in ALS patients, that’s meaningful.

Fortunately, the Human Genome Project identified large numbers of SNPs. And last year, the completed HapMap project helped scientists pick out which are most revealing, i.e. those more likely to be near a gene-bearing stretch of DNA.

In the ALS study, the research team will search the genomes of 276 American sporadic ALS patients, testing them and a like number of controls for some 400,000 SNPs - a fair guarantee that no stretch of DNA will go unnoticed. As a check, the study includes DNA from 276 Italian patients and controls from a DNA bio-bank in Turin, Italy.

Under the logic that the signposts in patients’ DNA associate physically near a sporadic ALS-related gene or genes, the study should make finding those genes far easier. "My gut feeling," Traynor says, "is that we’ll find several tied to the disease."

"But even if get no associations, that’s still a powerful result," he says. "That would suggest sporadic ALS isn’t gene-based, that we should focus instead on the environment." If that’s the case, the team is well situated. Not only is Italian collaborator Adriano Chio a noted investigator on environmental risk factors of ALS - he recently discovered that Italian soccer players had higher odds of having the illness - but the group also has an ongoing collaboration with a European consortium of ALS registries (EURALS), which actively surveys the populations of Italy, the UK and Ireland (25 million citizens) for ALS cases. To date, EURALS has collected health and lifestyle information on 900 patients and 1,700 controls.

Traynor, a genetic epidemiologist, is part of a project that’s already combing registry data for risk factors.

Marjorie Centofanti | EurekAlert!
Further information:
http://www.alscenter.org
http://www.jhmi.edu

More articles from Life Sciences:

nachricht Water forms 'spine of hydration' around DNA, group finds
26.05.2017 | Cornell University

nachricht How herpesviruses win the footrace against the immune system
26.05.2017 | Helmholtz-Zentrum für Infektionsforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Can the immune system be boosted against Staphylococcus aureus by delivery of messenger RNA?

Staphylococcus aureus is a feared pathogen (MRSA, multi-resistant S. aureus) due to frequent resistances against many antibiotics, especially in hospital infections. Researchers at the Paul-Ehrlich-Institut have identified immunological processes that prevent a successful immune response directed against the pathogenic agent. The delivery of bacterial proteins with RNA adjuvant or messenger RNA (mRNA) into immune cells allows the re-direction of the immune response towards an active defense against S. aureus. This could be of significant importance for the development of an effective vaccine. PLOS Pathogens has published these research results online on 25 May 2017.

Staphylococcus aureus (S. aureus) is a bacterium that colonizes by far more than half of the skin and the mucosa of adults, usually without causing infections....

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

How herpesviruses win the footrace against the immune system

26.05.2017 | Life Sciences

Water forms 'spine of hydration' around DNA, group finds

26.05.2017 | Life Sciences

First Juno science results supported by University of Leicester's Jupiter 'forecast'

26.05.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>