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NIH Family Members Giving Back: Toben Nelson

Posted on by Dr. Francis Collins

Roseville Raiders

Caption: Toben Nelson (back row, far left) celebrates with his Roseville Raiders after winning Gopher State Tournament of Champions.
Caption: Heather Hammond Nelson

What was Toben Nelson, a University of Minnesota epidemiologist who studies the health risks of alcohol abuse and obesity, doing this summer lugging around a heavy equipment bag after work? Giving back to his community. Nelson volunteered as a coach for the Roseville Raiders, a 13-year-old-and-under traveling baseball team that just wrapped up its season by winning the prestigious Gopher State Tournament of Champions in their age group.

In the fall, Nelson will gear up for hoops as the volunteer president of the Roseville Youth Basketball Association, which provides an opportunity for kids in this Minneapolis-St. Paul suburb to take part in organized sports. Nelson says volunteering grounds him as a scientist. It reminds him every single day that his NIH-supported research back at the office affects real lives and benefits real communities like his own.


Widening Gap in U.S. Life Expectancy

Posted on by Dr. Francis Collins

Map of life expectancies

Caption: Life expectancy at birth by county, 2014. Life expectancy into 80s (blue), 70s (green, yellow, orange), 60s (red).

Americans are living longer than ever before, thanks in large part to NIH-supported research. But a new, heavily publicized study shows that recent gains in longevity aren’t being enjoyed equally in all corners of the United States. In fact, depending on where you live in this great country, life expectancy can vary more than 20 years—a surprisingly wide gap that has widened significantly in recent decades.

Researchers attribute this disturbing gap to a variety of social and economic influences, as well as differences in modifiable behavioral and lifestyle factors, such as obesity, inactivity, and tobacco use. The findings serve as a sobering reminder that, despite the considerable progress made possible by biomedical science, more research is needed to figure out better ways of addressing health disparities and improving life expectancy for all Americans.

In the new study published in JAMA Internal Medicine, a research team, partially funded by NIH, found that the average American baby born in 2014 can expect to live to about age 79 [1]. That’s up from a national average of about 73 in 1980 and around 68 in 1950. However, babies born in 2014 in remote Oglala Lakota County, SD, home to the Pine Ridge Indian Reservation, can expect to live only about 66 years. That’s in stark contrast to a child born about 400 miles away in Summit County, CO, where life expectancy at birth now exceeds age 86.


Random Mutations Play Major Role in Cancer

Posted on by Dr. Francis Collins

Cancer OddsWe humans are wired to search for a causative agent when something bad happens. When someone develops cancer, we seek a reason. Maybe cancer runs in the family. Or perhaps the person smoked, never wore sunscreen, or drank too much alcohol. At some level, those are reasonable assumptions, as genes, lifestyle, and environment do play important roles in cancer. But a new study claims that the reason why many people get cancer is simply just bad luck.

This bad luck occurs during the normal process of cell division that is essential to helping our bodies grow and remain healthy. Every time a cell divides, its 6 billion letters of DNA are copied, with a new copy going to each daughter cell. Typos inevitably occur during this duplication process, and the cell’s DNA proofreading mechanisms usually catch and correct these typos. However, every once in a while, a typo slips through—and if that misspelling happens to occur in certain key areas of the genome, it can drive a cell onto a pathway of uncontrolled growth that leads to cancer. In fact, according to a team of NIH-funded researchers, nearly two-thirds of DNA typos in human cancers arise in this random way.

The latest findings should help to reassure people being treated for many forms of cancer that they likely couldn’t have prevented their illness. They also serve as an important reminder that, in addition to working on better strategies for prevention, cancer researchers must continue to pursue innovative technologies for early detection and treatment.


Creative Minds: Do Celebrity Endorsements Influence Teens’ Health?

Posted on by Dr. Francis Collins

Marie Bragg
Marie Bragg

Marie Bragg is a first-generation American, raised by a mother who immigrated to Florida from Trinidad. She watched her uncle in Florida cope effectively with type 2 diabetes, taking prescription drugs and following doctor-recommended dietary changes. But several of her Trinidadian relatives also had type 2 diabetes, and often sought to manage their diabetes by alternative means—through home remedies and spiritual practices.

This situation prompted Bragg to develop, at an early age, a strong interest in how approaches to health care may differ between cultures. But that wasn’t Bragg’s only interest—her other love was sports, having played on a high school soccer team that earned two state championships in Florida. That made her keenly aware of the sway that celebrity athletes, such as Michael Jordan and Serena Williams, could have on the public, particularly on young people. Today, Bragg combines both of her childhood interests—the influence of celebrities and the power of cultural narratives—in research that she is conducting as an Assistant Professor of Population Health at New York University Langone Medical Center and as a 2015 recipient of an NIH Director’s Early Independence Award.


Sickle Cell Disease: Gene-Editing Tools Point to Possible Ultimate Cure

Posted on by Dr. Francis Collins

Sickled red blood cell

Caption: An electron micrograph showing two red blood cells deformed by crystalline hemoglobin into different “sickle” shapes characteristic of people with sickle cell disease.
Credit: Frans Kuypers: RBClab.com, UCSF Benioff Children’s Hospital Oakland

Scientists first described the sickle-shaped red blood cells that give sickle cell disease its name more than a century ago. By the 1950s, the precise molecular and genetic underpinnings of this painful and debilitating condition had become clear, making sickle cell the first “molecular disease” ever characterized. The cause is a single letter “typo” in the gene encoding oxygen-carrying hemoglobin. Red blood cells containing the defective hemoglobin become stiff, deformed, and prone to clumping. Individuals carrying one copy of the sickle mutation have sickle trait, and are generally fine. Those with two copies have sickle cell disease and face major medical challenges. Yet, despite all this progress in scientific understanding, nearly 70 years later, we still have no safe and reliable means for a cure.

Recent advances in CRISPR/Cas9 gene-editing tools, which the blog has highlighted in the past, have renewed hope that it might be possible to cure sickle cell disease by correcting DNA typos in just the right set of cells. Now, in a study published in Science Translational Medicine, an NIH-funded research team has taken an encouraging step toward this goal [1]. For the first time, the scientists showed that it’s possible to correct the hemoglobin mutation in blood-forming human stem cells, taken directly from donors, at a frequency that might be sufficient to help patients. In addition, their gene-edited human stem cells persisted for 16 weeks when transplanted into mice, suggesting that the treatment might also be long lasting or possibly even curative.


Morning Sickness Associated with Lower Miscarriage Risk

Posted on by Dr. Francis Collins

Morning sickness

Thinkstock

During the first trimester of pregnancy, many women experience what’s commonly known as “morning sickness.” As distressing as this nausea and vomiting can be, a team of NIH researchers has gathered some of the most convincing evidence to date that such symptoms may actually be a sign of something very positive: a lower risk of miscarriage.

In fact, when the researchers studied a group of women who had suffered one or two previous miscarriages, they found that the women who felt nauseous during their subsequent pregnancies were 50 to 75 percent less likely to miscarry than those without nausea. While it’s not yet exactly clear what’s going on, the findings lend support to the notion that morning sickness may arise from key biological factors that reflect an increased likelihood of a successful pregnancy.


Explaining the Traveler’s First-Night Sleep Problem

Posted on by Dr. Francis Collins

Sleepy in the morning

Stock photo/Wavebreakmedia Ltd

This past weekend, I attended a scientific meeting in New York. As often seems to happen to me in a hotel, I tossed and turned and woke up feeling not very rested. The second night I did a bit better. Why is this? Using advanced neuroimaging techniques to study volunteers in a sleep lab, NIH-funded researchers have come up with a biological explanation for this phenomenon, known as “the first-night effect.”

As it turns out, the first night when a person goes to sleep in a new place, a portion of the left hemisphere of his or her brain remains unusually active, apparently to stay alert for any signs of danger. The new findings not only provide important insights into the function of the human brain, they also suggest methods to prevent the first-night effect and thereby help travelers like me in our ongoing quest to get a good night’s sleep.


Making the Connections: Study Links Brain’s Wiring to Human Traits

Posted on by Dr. Francis Collins

The Human Connectome

Caption: The wiring diagram of a human brain, measured in a healthy individual, where the movement of water molecules is measured by diffuse tensor magnetic resonance imaging, revealing the connections. This is an example of the type of work being done by the Human Connectome Project.
Source: Courtesy of the Laboratory of Neuro Imaging and Martinos Center for Biomedical Imaging, Consortium of the Human Connectome Project

For questions about why people often think, act, and perceive the world so differently, the brain is clearly an obvious place to look for answers. However, because the human brain is packed with tens of billions of neurons, which together make trillions of connections, knowing exactly where and how to look remains profoundly challenging.

Undaunted by these complexities, researchers involved in the NIH-funded Human Connectome Project (HCP) have been making progress, as shown by some intriguing recent discoveries. In a study published in Nature Neuroscience [1], an HCP team found that the brains of individuals with “positive” traits—such as strong cognitive skills and a healthy sense of well-being—show stronger connectivity in certain areas of the brain than do those with more “negative” traits—such as tendencies toward anger, rule-breaking, and substance use. While these findings are preliminary, they suggest it may be possible one day to understand, and perhaps even modify, the connections within the brain that are associated with human behavior in all its diversity.


Precision Medicine: Who Benefits from Aspirin to Prevent Colorectal Cancer?

Posted on by Dr. Francis Collins

Aspirin and DNA StethoscopeIn recent years, scientific evidence has begun to accumulate that indicates taking aspirin or other non-steroidal anti-inflammatory drugs (NSAIDs) on a daily basis may lower the risk of developing colorectal cancer. Now, a new study provides more precise information on who might benefit from this particular prevention strategy, as well as who might not.

Published in the journal JAMA, the latest work shows that, for the majority of people studied, regular use of aspirin or NSAIDs was associated with about a one-third lower risk of developing colorectal cancer. But the international research team, partly funded by NIH, also found that not all regular users of aspirin/NSAIDs reaped such benefits—about 9 percent experienced no reduction in colorectal cancer risk and 4 percent actually appeared to have an increased risk [1]. Was this just coincidence, or might there be a biological explanation?


Head and Neck Cancer: Building the Evidence Base for Precision Oncology

Posted on by Dr. Francis Collins

squamous cell carcinoma

Caption: Triple immunohistochemical stained oral squamous cell carcinoma: nuclei in brown, cytoplasm in red, and cytoplasmic membranes in blue green.
Credit: Alfredo A. Molinolo, Oral and Pharyngeal Cancer Branch, National Institute of Dental and Craniofacial Research, NIH

An exciting new era in cancer research is emerging, called precision oncology. It builds on decades of research establishing that cancers start with glitches in the genome, the cell’s instruction book. Researchers have now identified numerous ways that mutations in susceptible genes can drive the cancer process. Knowing where and how to look for them brings greater precision to diagnosing cancers and gives doctors key clues about which treatments might work and which ones won’t.

To build a firmer evidence base for precision oncology, more and more cancer genomes, from many different body sites, must be analyzed for clues about the drivers of the malignant process. That’s why it’s always exciting to see a new genomic analysis that adds substantially to our understanding of a common tumor. The latest to appear, published online at the journal Nature, comes from an NIH-supported study on the most common type of head and neck cancer, called squamous cell carcinoma. The technologically advanced analysis confirms that many previously suspected genes do indeed play a role in head and neck cancer. But that’s not all. The new data also identify several previously unknown subtypes of this cancer. The first descriptions of the abnormal molecular wiring in these subtypes are outlined, suggesting possible strategies  to neutralize or destroy the cancer cells. That’s potentially good news to help guide and inform the treatment of the estimated 55,000 Americans who are diagnosed with a head and neck cancer each year.


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