skip navigation nih record
Vol. LXVI, No. 17
August 15, 2014
cover

previous story



Digest

NIH Scientists Find Six New Genetic Risk Factors for Parkinson’s Disease

Genome-based studies have dominated the science headlines recently.

Genome-based studies have dominated the science headlines recently.

Using data from more than 18,000 patients, scientists have identified more than 2 dozen genetic risk factors involved in Parkinson’s disease, including 6 that had not been previously reported. The study, published in Nature Genetics, was partially funded by NIH and led by scientists working in NIH laboratories.

“Unraveling the genetic underpinnings of Parkinson’s is vital to understanding the multiple mechanisms involved in this complex disease, and hopefully, may one day lead to effective therapies,” said Dr. Andrew Singleton, a scientist at the National Institute on Aging and senior author of the study.

Singleton and his colleagues collected and combined data from existing genome-wide association studies, which allow scientists to find common variants, or subtle differences, in the genetic codes of large groups of individuals. The combined data included approximately 13,708 Parkinson’s disease cases and 95,282 controls, all of European ancestry.

The investigators identified potential genetic risk variants, which increase the chances that a person may develop Parkinson’s disease. Their results suggested that the more variants a person has, the greater the risk—up to three times higher—for developing the disorder in some cases.

Affecting millions of people worldwide, Parkinson’s disease is a degenerative disorder that causes movement problems, including trembling of the hands, arms or legs, stiffness of limbs and trunk, slowed movements and problems with posture. Over time, patients may have difficulty walking, talking or completing other simple tasks. Although nine genes have been shown to cause rare forms of Parkinson’s disease, scientists continue to search for genetic risk factors to provide a complete genetic picture of the disorder.

TCGA Researchers Identify Four Subtypes of Stomach Cancer

Stomach cancers fall into four distinct molecular subtypes researchers with The Cancer Genome Atlas (TCGA) Network have found. In the study, published online July 23 in Nature, the scientists report that this discovery could change how researchers think about developing treatments for stomach cancer, also called gastric cancers or gastric adenocarcinomas.

Instead of considering gastric cancer as a single disease, as has been done in the past, researchers will now be able to explore therapies in defined sets of patients whose tumors have specific genomic abnormalities. Stomach cancers are a leading cause of cancer-related mortality worldwide, resulting in an estimated 723,000 deaths annually.

Previous attempts to examine the clinical characteristics of gastric cancer were hindered by how differently cancer cells can look under a microscope, even when from the same tumor. The researchers hope that the new classification system will serve as a valuable adjunct to the current pathology classification system, which has two categories: diffuse and intestinal.

Common Gene Variants Account for Most Genetic Risk for Autism

Most of the genetic risk for autism comes from versions of genes that are common in the population rather than from rare variants or spontaneous glitches, researchers funded by NIH have found. Heritability also outweighed other risk factors in this largest study of its kind to date.

About 52 percent of the risk for autism was traced to common and rare inherited variation, with spontaneous mutations contributing a modest 2.6 percent of the total risk.

“Genetic variation likely accounts for roughly 60 percent of the liability for autism, with common variants comprising the bulk of its genetic architecture,” explained Dr. Joseph Buxbaum of Icahn School of Medicine at Mount Sinai, New York City. “Although each exerts just a tiny effect individually, these common variations in the genetic code add up to substantial impact, taken together.”

Buxbaum and colleagues of the Population-Based Autism Genetics and Environment Study Consortium reported on their findings in a unique Swedish sample in the journal Nature Genetics, July 20.

NIH System To Monitor Emerging Drug Trends

An innovative National Drug Early Warning System (NDEWS) is being developed to monitor emerging trends that will help health experts respond quickly to potential outbreaks of illicit drugs such as heroin and to identify increased use of designer synthetic compounds. The system will scan social media and web platforms to identify new trends as well as use conventional national- and local-level data resources.

The University of Maryland’s Center for Substance Abuse Research will receive 5 years of funding from the National Institute on Drug Abuse to develop NDEWS.

“NDEWS will generate critically needed information about new drug trends in specific locations around the country so rapid, informed and effective public health responses can be developed precisely where needed,” said NIDA director Dr. Nora Volkow. “By monitoring trends at the local level, we hope to prevent emerging drug problems from escalating or spreading to surrounding regions.”


back to top of page