Patient’s Whole Genome Reveals Risk of Diseases and Adverse Drug Responses

May 1, 2010 | by

Scientists at Stanford and Harvard Universities collaborated to assess the clinical usefulness of analyzing a patient’s full genome for disease risks and unusual drug responses. The work brings closer to reality the concept that whole-genome sequencing might one day play a clinical role.

The analysis, which was supported by the National Institutes of Health (NIH), appears in the May 1, 2010 issue of Lancet.

The authors evaluated the entire genome of a 40-year old man and compared it to several databases of disease-related gene variants. They also factored in the patient’s medical and family history and statistical disease risks. As part of the work, the researchers provided the patient with genetic counseling and clinical tests relevant to his family history.

The genome analysis revealed variants associated with diseases in the man’s family (osteoarthritis, vascular disease and early sudden death). It also uncovered variants linked to conditions not in his family (iron overload and thyroid and parathyroid diseases). Some variants suggested that he might have unusual responses to certain heart medications, which is meaningful in light of his risk for cardiovascular disorders.

NIH-led Interagency Group Identifies Research Needs to Study Climate Change and Human Health Impacts

April 21, 2010 | by

A report released today by a federal working group highlights 11 key categories of diseases and other health consequences that are occurring or will occur due to climate change. The report, A Human Health Perspective on Climate Change, provides a starting point for coordination of federal research to better understand climate’s impact on human health. The recommendations of the working group include research to identify who will be most vulnerable, and what efforts will be most beneficial.

“This white paper articulates, in a concrete way, that human beings are vulnerable in many ways to the health effects of climate change,” said Linda Birnbaum, Ph.D., director of the National Institute of Environmental Health Sciences (NIEHS) and the National Toxicology Program, whose institute led the interagency effort. “It lays out both what we know and what we need to know about these effects in a way that will allow the health research community to bring its collective knowledge to bear on solving these problems.”

Traditional ‘Heel Stick’ Test Is Not an Effective Screening Tool for CMV in Newborns

April 13, 2010 | by

A routine screening test for several metabolic and genetic disorders in newborns, the heel-stick procedure, is not effective in screening for cytomegalovirus (CMV) infection, a leading cause of hearing loss in children, according to research published in the April 14 online issue of the Journal of the American Medical Association.

About 20,000-30,000 infants are born infected with CMV each year, 10-15 percent of whom are at risk for eventually developing hearing loss.

The study, funded by the National Institute on Deafness and Other Communication Disorders (NIDCD), one of the National Institutes of Health, is part of a multicenter research project headed by the University of Alabama at Birmingham that is seeking to find the most effective screening test for CMV infection in newborns. The standard method for detecting CMV infection in newborns is labor-intensive and not conducive to a widespread screening program.

Sleep Apnea Tied to Increased Risk of Stroke

April 8, 2010 | by

Obstructive sleep apnea is associated with an increased risk of stroke in middle-aged and older adults, especially men, according to new results from a landmark study supported by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health. Overall, sleep apnea more than doubles the risk of stroke in men. Obstructive sleep apnea is a common disorder in which the upper airway is intermittently narrowed or blocked, disrupting sleep and breathing during sleep.

Sleep apnea and snoring

Common Mechanisms of Drug Abuse and Obesity

March 31, 2010 | by

Some of the same brain mechanisms that fuel drug addiction in humans accompany the emergence of compulsive eating behaviors and the development of obesity in animals, according to research funded by the National Institute on Drug Abuse (NIDA), a component of the National Institutes of Health.

The study, conducted by researchers at the Scripps Research Institute, was released on March 28th in the online version of Nature Neuroscience and will also appear in the journal’s May 2010 print issue. When investigators gave rats access to varying levels of high-fat foods, they found unrestricted availability alone can trigger addiction-like responses in the brain, leading to compulsive eating behaviors and the onset of obesity.

“Drug addiction and obesity are two of the most challenging health problems in the United States,” said Dr. Nora D. Volkow, director of NIDA. “This research opens the door for us to apply some of the knowledge we have gathered about drug addiction to the study of overeating and obesity.”

Both obesity and drug addiction have been linked to a dysfunction in the brain’s reward system. In both cases overconsumption can trigger a gradual increase in the reward threshold — requiring more and more palatable high fat food or reinforcing drug to satisfy the craving over time.