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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.


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 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.


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.

Aspirin a Day Keeps Emphysema Away, Early Study Alludes

Aspirin a Day Keeps Emphysema Away, Early Study AlludesAccording to a recent observational study, regular aspirin use is associated with a slowing of the progression of subclinical emphysema. The results, which still need to be confirmed by a prospective study, give hope to many suffering from emphysema as a potential treatment and, if confirmed, would be the only known treatment for the condition.
Carrie Aaron, MD, of Columbia University Medical Center in New York City led the study and noted “a number of animal studies showing that endothelial damage contributes to the development of emphysema, and there are lung biopsies in humans showing areas of emphysema where the capillaries are destroyed”. Aaron and her research team began their study in the hope that aspirin has the potential to counter emphysema by “inhibiting platelet activation, reducing inflammation, or altering blood flow in pulmonary capillaries”.
The team based their study on the already ongoing Multi-Ethnic Study of Atherosclerosis (MESA) study, which is designed to reveal the characteristics of subclinical cardiovascular disease and risk factors associated with disease progression. Aaron is hopeful that "something that is so widely used might help alleviate the cardiovascular side of things and the pulmonary side of things”.

Click Here to Access the Full Story on Medscape

COPD Takes Big Toll on Employment, Mobility in U.S.

COPD Takes Big Toll on Employment, Mobility in U.S.A new report published in the Centers for Disease Control (CDC) journal Morbidity and Mortality Weekly Report has found that nearly one-quarter of Americans that suffer from chronic obstructive pulmonary disease, or COPD, are unable to work.

Using U.S. health data for 2013, the CDC team led by CDC investigator Anne Wheaton, found that just over 24 percent of adults with COPD reported that they cannot work compared to about 5 percent of adults in the general population.

Of those, about half said they also had some form of "activity limitation" linked to their condition, and more than 38 percent said they found it difficult to walk or climb stairs.

Due to the alarming results, the CDC advises people with the condition to quit smoking as soon as possible if they do. However, the report also found that “more than one-third of those with COPD continued to smoke.”

"Smoking cessation has been shown to slow the progression of COPD," the report said, and smoking raised the odds of activity limitations in patients. "This result reinforces the importance of smoking cessation by COPD patients," the experts said.

Another way COPD patients can combat the illness is engaging in a "pulmonary rehabilitation" program. This sometimes requires physical activity that may be challenging for some persons with COPD, but the CDC team insists that exercise training is an “essential part of helping the body maximize its respiratory potential.”

Wheaton also maintains that public health efforts should “focus on prevention, such as anti-smoking programs and treatment to slow the progression of the disease, manage [accompanying illnesses], and lessen symptoms.”

Click Here to Access the Full Story on HealthDay

One-way valves to treat severe emphysema

Researchers at the University of Alabama at Birmingham are investigating a one-way valve for its ability to improve lung function. The valve can be placed in the lungs of patients with severe emphysema and is being hailed as a method that can reduce lung volume without surgery.

Lung-volume-reduction surgery, in which over-inflated, diseased parts of the lung are surgically cut away, allowing the lung to return to a more normal size is a traditional path many take to combat damaging the lungs further. While the surgery is effective, it is not commonly performed in the United States due to the associated risks of pulmonary or cardiac complications.

Developed as a non-surgical option, the one-way valve, formerly known as the Zephyr endobronchial valve, is a minimally invasive procedure. Using a bronchoscope inserted in the airway, several small, one-way valves are placed in the lungs to block airflow to diseased regions. This allows healthy regions to expand and function more efficiently, enabling better breathing and improving quality of life.

"The idea behind all lung-volume-reduction procedures is to reduce the volume in the lung and allow the diaphragm to return to its normal shape and function," said Mark Dransfield, M.D., associate professor in the Division of Pulmonary, Allergy and Critical Care Medicine and medical director of the UAB Lung Health Center. "We're looking for a less invasive way to achieve that goal without the risks inherent in surgery."

So far the valves have been placed in four patients diagnosed with severe emphysema. Dransfield also adds that not all patients with severe emphysema are good candidates for the implantation, noting that “patients need to have enough healthy lung tissue so that blockage of the most diseased and damaged areas and the reduced lung volume will allow the healthier areas to function more normally.”

While there is no cure for emphysema, Dransfield insists that “clinical studies in Europe indicate majority of patients see a significant improvement in lung function, exercise tolerance and quality of life.”

Click Here to Access the Full Article on Medical Xpress

LifeMap and Mount Sinai Launch COPD Navigator App Pilot

COPD appWith the release of Apple’s HealthKit, LifeMap Solutions, a digital therapeutics provider, and Mount Sinai partnered to create a self-management program called COPD Navigator. This iOS mobile health application that empowers patients to better monitor and manage chronic obstructive pulmonary disease (COPD) by “leverage[ing] evidence-based care guidelines, behavioral science, and patient data to deliver personalized, doctor-specified interventions with the goal of achieving better outcomes at lower cost”.

With over 24 million people affected, COPD is estimated to cost the United States over $50 billion dollars annually in treatment, surgery, and hospital re-admissions. If patients are able to recognize the signs of an impending exacerbation and take action immediately, they can potentially avoid costly treatments and hospital admissions. So how will COPD Navigator help to solve this problem?

The app is designed to enable patients and care teams to intervene earlier and help payers control the costs of chronic disease management while improving patient quality of life. To do this, COPD Navigator “tracks patient data that includes symptoms, medication and treatment adherence, and overall quality of life. This information is presented in an easy-to-understand and configurable graph that empowers the patient to recognize patterns in their own health history, as well as to send this information to their doctor”.

Additionally, the app also helps patients to “avoid environmental risk factors by providing real-time alerts about local air quality and extreme weather” and is equipped to accept inhaler usage information from any HealthKit-compliant, Bluetooth-enabled, “smart” inhaler device. This means that the app will know when the patient has used their inhaler and how often, helping the app track medication adherence.

COPD Navigator can help to avoid certain risk factors; it is only one part of a larger COPD platform that LifeMap has created. The larger platform includes a clinician dashboard for care providers, which is a HIPAA-compliant tool that shows the health status of patient populations. From the dashboard, clinicians can “flag high-risk patients, set rules for events-based alerts, and intervene early with the goal of reducing the risk of acute exacerbations”.

The COPD Navigator app is currently expected to be available to the public in the second half of 2015. 

Click Here to Access the Full Story on HIT Consultant

A New Hope for Severe COPD Patients

Blount Memorial Sleep Health Center has recently correlated advances in non-invasive ventilatory support with that of chronic obstructive pulmonary disease (COPD) treatment. Like continuous positive airway pressure (CPAP) devices, a treatment for obstructive sleep apnea,a new device calledbi-level positive airway pressure (BPAP),is showing significant decreases in a COPD patient’s chances of needing to be placed on an invasive lifesaving ventilator.

Dr. Jaber Hassan with the Blount Memorial Sleep Health Center explains that while many people don’t make a correlation between sleep apnea and COPD, the method of treatment is quite similar. “BPAP or BiPAP systems use a mask to deliver air pressure, rather than requiring a tube to be placed in the trachea. It’s very similar to a CPAP system, and has saved many lives, shortened hospital stays, reduced the costs incurred with using a ventilator, and has helped prevent the overall deterioration of quality of life,” he explained.

Operationally, the BPAP device helps in the relaxation of the breathing muscles at night. “These muscles usually are overworked to the point of exhaustion, causing shortness of breath and the retention of carbon dioxide in the lungs. With the right patient, use of a BPAP machine at night can improve carbon dioxide and oxygen levels during the day on a chronic basis,” said Hassan. “With careful monitoring, maximization of care, vaccination, screening for sleep apnea and consideration of home BPAP systems when appropriate, we potentially can make remarkable reductions in the effects of COPD.”


Click Here to Access the Full Story on The Daily Times

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