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$10 Million DNA Sequencing Effort Aims to Shed Light on Lung Diseases

Having received a $10 million donation from the National Heart, Lung and Blood Institute (NHLBI), the Washington University McDonnell Genome Institute will commence the sequencing of DNA from individuals with diverse ethnic backgrounds to better understand genetic roots that can lead lung disorders, including chronic obstructive pulmonary disease.

Most other large genome sequencing projects have focused on Europeans and Caucasians,” said principal investigator Susan K. Dutcher, PhD, a professor of genetics and the interim director of the McDonnell Genome Institute at Washington University School of Medicine. “With this program, we are including many people with other racial and ethnic backgrounds. Increasing the diversity of the groups being sequenced is important in understanding how genetic variations influence disease risk.”

aug2017006This study is part of a larger national initiative, NHLBI’s TOPMed program, which aims to “sequence and analyze the complete DNA – or whole genomes – of patients.” Researchers have the opportunity to use data from 62,000 participants involved in the program that were chosen based on their involvement with other studies, including the Framingham Heart Study.

In an effort to reduce disparity-related sequencing efforts, the clinical trials in the analysis were specially chosen in a manner that would more closely mirror the diversity of the U.S. population and the genetic data present in individuals from underrepresented groups. Fifty percent of participants are of European descent, 30 percent are of African descent, 10 percent are of Hispanic or Latino origin, eight percent are of Asian descent, and approximately two percent represent indigenous populations.

“It’s also important that the total number of patients in the project is huge,” Dutcher said. “Early phases of TOPMed have already sequenced the genomes of 85,000 people. This year, for Washington University’s portion of the project, we’re sequencing the genomes of about 6,500 patients with lung diseases, primarily COPD and interstitial pulmonary fibrosis, a progressive scarring of lung tissue with variable causes, including autoimmunity.”

Researchers are ultimately seeking to understand how differences in DNA can contribute to disease risk. For instance, a variation in certain genes may increase the risk of developing a certain disease. Additionally, these studies may lead to the discovery of DNA variations that may protect against or decrease the risk of acquiring a particular disorder. These finding can be made possible with significantly large sample sizes that enable researchers to analyze DNA sequences in relation to patients’ diseases and compare those against healthy individuals for a more thorough understanding.

Click Here to Access the Full Article on Washington University School of Medicine in St. Louis 

Study Reveals How HIV Virus Destroys Lung Tissue

A recent study published in Cell Reports exposes the damage human immunodeficiency virus (HIV) has on lung tissue. Weill Cornell Medicine researchers discovered a mechanism that could explain why nearly “30 percent of HIV patients who are appropriately treated with antiretroviral therapies” are later diagnosed with emphysema. Further, the study reveals how HIV binds to and transforms basal cells lining airways. These altered cells then release enzymes that can “destroy lung tissue and poke holes in walls of air sacs.”

“This research is important because although antiretroviral agents have turned HIV into a chronic, rather than deadly, disease, the viral reservoirs that remain in the lungs and other tissue continue to cause serious side effects,” said senior author Dr. Ronald Crystal, chairman of the Department of Genetic Medicine and the Bruce Webster Professor of Internal Medicine at Weill Cornell Medicine, and a pulmonologist at New York-Presbyterian/Weill Cornell Medical Center. “Now that we have more information about how the HIV virus might cause emphysema, we can learn more about this potential enzyme target and work toward developing a therapy to prevent this lung damage from happening.”

Although antiretroviral agents have helped to extend the lives of HIV-positive patients, they develop “degenerative disorders of the brain, heart and lungs” significantly more often than the general population. There are various explanations for this occurrence, including the belief that the antiretroviral drugs may in fact lead to these outcomes.

To gain insight, researchers exposed normal human airways basal cells, acquired from the lungs of nonsmokers, to HIV. Under observation, it was discovered that the virus “bonded to the basal cell’s surface and reprogrammed them to start producing an enzyme.” This enzyme then began to deteriorate proteins as well as destroy tissues. This finding is significant as emphysema originates in the airways, when basal cells are transformed due to the virus they begin to destroy healthy lung tissue which ultimately leads to emphysema.

“Our next step is to conduct additional research to determine what the preventive therapeutic target might be,” Crystal said, “And then, since basal cells are so important to normal lung anatomy and lung function, determine the other side effects of this re-programming.”

Click Here to Access the Full Article on Cornell

3 Travel Considerations If You Have a Lung Disease

Having a lung disease doesn’t have to hinder summer vacation plans. As temperatures continue to rise, the British Lung Foundation offers three key pieces of advice for individuals with lung disease who are planning to travel.

Transportation

It is essential to prepare for any special transportation-related accommodations that will be needed. Whether traveling by plane, bus, train or ship, the operator should be contacted ahead of time if an individual is traveling with oxygen. Each transportation provider has varying oxygen policies and may require travelers to bring special equipment. Determining if wheelchair access or assistance is provided to assist individuals boarding or leaving the vehicle is also another factor to plan for.

Location

Location can have a significant impact on traveling. An individual’s healthcare team should be consulted before planning a vacation to ensure they can safely travel to specific destinations. For instance, “places at high altitudes may cause problems for people with lung diseases as their lungs will need to work much harder to breathe.” The terrain also impacts the ability to physically travel. Individuals must consider the availability of oxygen and medical assistance while visiting certain locations.

Medication

It is advised to take all required medications for the duration of the trip, as well as “extra in case of emergencies.” The British Lung Foundation also recommends taking a list of all required medications to show medical professionals in the case that an individual falls ill during the trip.

Click Here to Access the Full Article on Lung Disease News

No Link Between Smoking Cessation Meds and Serious Side Effects

A new study finds that popular smoking cessation drugs varenicline (Chantix) and bupropion (various brands), “show no significant increase in the risk for serious neuropsychiatric side effects in patients with or without psychiatric disorders”.

The largest to date study examined the “safety and efficacy of the two drugs in comparison with nicotine patch and placebo,” was taken on based on a request by the US Food and Drug Administration (FDA), which requires a black box warning on the two drugs, owing to concerns of neuropsychiatric side effects.

June2016002Published online in Lancet, the study was conducted between 2011 and 2015 and examined over 8000 smokers who were motivated to quit, from 16 different countries. Participants were grouped into those with current or past stable psychiatric disorders and those without such disorders.

Study participants were randomly assigned to “receive 12 weeks of treatment with either varenicline, bupropion nicotine patch, or placebo, with 12 weeks of non-treatment follow-up. It was also noted that participants also received cessation counseling at each visit.

Of those studied who had no previous psychiatric disorders, “there were no statistically significant differences between any of the treatment groups in rates of moderate and severe neuropsychiatric disorders.” For those participants who had been previously diagnosed with a psychiatric disorders or were currently dealing with any, “rates of moderate and severe neuropsychiatric adverse events were higher in general.”

Click Here to Access the Full Story on Medscape

Implantable Air Valves Help Some Emphysema Patients Breathe Easier

jan2016_3What if you were told that there was a new, experimental treatment for severe emphysema? Would you try it? First, let’s take a look at what its benefits are and how it works.

According to a new study out of University of Groningen in the Netherlands, the treatment is designed to replace more risky surgeries, such as Lung Volume Reduction Surgery, and involves placing one-way valves in airways to alleviate damaged lung tissue by giving healthier areas of the lung more breathing room. These valves “help patients to breathe easier and exercise longer”, said lead study author Karin Klooster, which “can relieve symptoms [and act as] a workable therapy”.

So, what’s the catch? Researchers say the technique “only works in patients whose badly-damaged lung tissue is isolated”. If air is sneaking in from healthier tissue, the treatment is not effective. Klooster also noted that because of this limitation, “only about one in 10 patients with severe emphysema would be candidates for the implanted valves”. Klooster continues to emphasize that although the group of those qualified for the surgery would but small, “the benefit would be real”.

To compare, “with the valves in place, patients released 21 percent more air in the first second when they tried to exhale. With standard care the increase was just 3 percent”, according to the results in the New England Journal of Medicine, where the study was published.

While the valves have not yet been approved for use in the U.S., they are being tested at 21 U.S. centers as part of a separate study using valves.

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