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Inheriting a mutation in the APC gene leads to a nearly 100% lifetime risk of colorectal cancer. While colon cancer can be kept at bay by removing the large intestine, these patients also have up to a 15% risk of getting cancer in the small intestine, which is the leading cause of cancer death in this patient group. A new study published in the Journal of the American Medical Association (JAMA), has identified the first prevention treatment for these patients, a two-drug combination that significantly reduces the number and size of precancerous polyps in the small intestine.

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The most common immune disorder, common variable immunodeficiency disorder (CVID), is notoriously difficult to diagnose early, before serious complications develop. Genetic analysis of six families from across the U.S. and Europe has revealed that mutations in IKAROS, known for its central role in immune cell development, define a new class of CVID. Published in the New England Journal of Medicine, the results open the door to personalized health care tailored to patients with this disorder.

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In a search for new antiviral drugs, University of Utah scientists found that a common heart failure medicine, spironolactone, has an unexpected ability to block Epstein Barr virus (EBV), a herpesvirus that causes mononucleosis. The drug blocks a key step in viral infection common to all herpesviruses, revealing that it could be developed into a new class of drug to treat herpesvirus infections including herpes, shingles, and mono. The research was published in PNAS.

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A University of Utah biochemist is one of four researchers worldwide to receive a grant from the Juvenile Diabetes Research Foundation (JDRF) and the pharmaceutical company Sanofi US Services Inc. to develop glucose-responsive insulin.

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Roughly eight percent of our DNA comes from viruses that infected our ancestors millions of years ago. New research by University of Utah geneticists shows that more than an oddity, the viral DNA switches on genes responsible for initiating an immune response. When removed, the innate immune system –a first-responder to infection by pathogens including viruses- does not function properly. The study shows that viral DNA functions in our body by helping us fight infections.

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A University of Utah-led initiative to help people with rare and untreatable diseases was highlighted by the White House at the Precision Medicine Initiative Summit today. Patient Empowered Precision Medicine Alliance (PEPMA) will lay the groundwork for a pipeline that rapidly matches patients with rare diseases that are untreatable with current therapies to the right drugs for their condition, at a relatively low cost.

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Physicians have long recognized that lab testing isn’t necessary for all hospitalized patients on a daily basis. Regardless, such tests are often conducted because of routine. Published in the Journal of Hospital Medicine, University of Utah Health Care developed a tool, Value Driven Outcomes (VDO), to reduce superfluous lab testing. When integrated into a quality improvement initiative lab costs decreased by nearly 10 percent per visit. If applied to all inpatient visits, it was estimated the hospital could save over $1.5 million each year.

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On Jan. 14-15, leading scientists and clinicians from across the globe will come to the University of Utah School of Medicine in Salt Lake City for the Utah Cardiac Recovery Symposium (U-CARS). Now in its fourth year, the one-of-a-kind conference has been described as a “think tank” where hundreds of cardiologists, surgeons, radiologists, anesthesiologists, ER physicians, nurses, pharmacists, research scientists and more converge to push forward the field of heart recovery.

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Brain scans from nearly 200 adolescent boys provide evidence that the brains of compulsive video game players are wired differently. Chronic video game play is associated with hyperconnectivity between several pairs of brain networks. Some of the changes are predicted to help game players respond to new information. Other changes are associated with distractibility and poor impulse control. The new findings, a collaborative effort between the University of Utah School of Medicine, and Chung-Ang University in South Korea, were published online in Addiction Biology on Dec. 21, 2015.

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University of Utah associate vice provost for research Rena D’Souza, D.D.S., Ph.D., will serve as vice president, followed by three consecutive terms as president-elect, president and immediate past president.

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When a cancer of unknown origin strikes, patients' family members are at a higher risk for those and other types of cancer.

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A new study in the December issue of Academic Medicine bolsters research linking good patient satisfaction scores with good patient outcomes. And it sheds light on another, unspoken benefit by showing how openly sharing patient satisfaction metrics created a culture of empathy, communication, trust and shared decision making between patients and providers at a health system in Utah: University of Utah Health Care (UUHC).

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In a study published in the journal of Cancer Epidemiology, Biomarkers, and Prevention, Cornelia Ulrich from Huntsman Cancer Institute and her collaborators used a new technique, metabolite profiling, to identify a biochemical pathway previously unknown to be regulated by aspirin. Specifically, the researchers found that aspirin substantially decreases the level of a chemical called 2-hydroxyglutarate in the blood of healthy volunteers and in two colorectal cancer cell lines. This chemical, 2-hydroxyglutarate, is considered a driver of cancer development (known as an oncometabolite) because elevated levels have been found in certain cancers of the blood and brain and several groups are currently studying it as a molecule that promotes tumor formation.

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A new study finds that at least 16.8 million Americans could potentially benefit from lowering their systolic blood pressure (SBP) to 120 mmHg, much lower than current guidelines of 140 or 150 mmHg. The collaborative investigation between the University of Utah, University of Alabama at Birmingham, and Columbia University, will be published Nov. 9 online in the Journal of the American College of Cardiology (JACC). The scientists calculated the potential impact of preliminary results from the Systolic Blood Pressure Intervention Trial (SPRINT) to be presented in full at the American Heart Association meeting and published online in the New England Journal of Medicine, also on Nov. 9.

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Patients whose blood pressure target was lowered by medications to reach a systolic goal of 120 mmHg had their risk for heart attack and heart failure reduced by 38 percent, and their risk for death lowered by 27 percent. Aggressive treatment appeared to be as effective for adults age 75 and older as for adults age 50-74, according to results from the Systolic Blood Pressure Intervention Trial (SPRINT) presented at the American Heart Association meeting and published online in the New England Journal of Medicine (NEJM) on Nov. 9, 2015.

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The U.S. Food and Drug Administration announced on Oct. 27 that it has approved, for the first time, an oncolytic (cancer-killing) viral therapy in the United States. The drug was approved for use against late-stage melanoma, a deadly skin cancer.

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SALT LAKE CITY - Truck drivers who are frequently fatigued after work, use cell phones while driving, or have an elevated pulse pressure – a potential predictor of cardiovascular disease - may be at increased risk for getting into truck accidents, according to a study by the Rocky Mountain Center for Occupational and Environmental Health (RMCOEH) at the University of Utah School of Medicine and published in the Journal of Occupational and Environmental Medicine (JOEM). The findings suggest that characteristics of the profession may put truck drivers at risk.

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A study led by the University of Utah School of Medicine has identified molecular mechanisms that control an immune cell’s ability to remember. They found that in helper T cells, the proteins Oct1 and OCA-B work together to put immune response genes on standby so that they are easily activated when the body is re-exposed to a pathogen. The research, which could inform strategies for developing better vaccines, was performed in collaboration with scientists from The Broad Institute and University of Michigan, and published in The Journal of Experimental Medicine.

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Why elephants rarely get cancer is a mystery that has stumped scientists for decades. A study led by researchers at Huntsman Cancer Institute (HCI) at the University of Utah and Arizona State University, and including researchers from the Ringling Bros. Center for Elephant Conservation, may have found the answer. According to the results, published in the Journal of the American Medical Association (JAMA), elephants have 38 additional modified copies (alleles) of a gene that encodes p53, a well-defined tumor suppressor, as compared to humans, who have only two. Further, elephants may have a more robust mechanism for killing damaged cells that are at risk for becoming cancerous. The results suggest extra p53 could explain elephants’ enhanced resistance to cancer.

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While pollution from cars and other sources is known to trigger asthma in some children, there are a number of lesser-understood factors that also increase their risk – everything from viral infections, to stress, to playing soccer all day. A team of University of Utah researchers is developing an informatics platform that will make it possible to crowdsource scientific data and, eventually, pinpoint the cause of a child’s wheezing.

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A cardiovascular team at University of Utah Hospital has successfully performed a first-in-the-world heart procedure on a 72-year-old attorney after suffering a large heart attack. Amit N. Patel, M.D. M.S., director of clinical regenerative medicine and associate professor of surgery at University of Utah Health Care, was the first physician to perform an emerging heart procedure where cardiac matrix is directly injected into a damaged heart. This is the first clinical trial to be approved by the U.S. Food and Drug Administration (FDA) for matrix therapy of the heart.

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As advances in medicine are giving rise to growing numbers of children who survive severe heart defects, it’s emerging that over half have behavioral problems and difficulty keeping up academically. The University of Utah School of Medicine was awarded $6.4 million from the National Institutes of Health to identify causes of these disabilities, focusing on a search for genetic lesions that affect both the heart and brain. The goal is to be able to predict patient outcomes from genetic data, so that health care providers can intervene early.

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University of Utah School of Dentistry has received an HRSA Grant to provide oral health care for people with drug abuse problems.

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A study led by the University of Utah School of Medicine finds that every child puts a household at increased risk for viral infections. Childless households had infections during 3-4 weeks of the year, while families with six children were infected for 45 weeks. But only half who tested positive reported feeling ill. Published in Clinical Infectious Diseases, the results can help families and health care providers know when illness should be cause for concern.

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Communication among health care facilities, public health agencies is critical in effort to avoid HAIs, CDC-led study finds

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Researchers at the University of Utah School of Medicine report that a nuanced, targeted version of parental control over gene expression, is the method of choice over classic genomic imprinting. Published in Cell Reports, so-called noncanonical imprinting is particularly prevalent in the brain, and skews the genetic message in subpopulations of cells so that mom, or dad, has a stronger say. The mechanism can influence offspring behavior, and because it is observed more frequently than classic imprinting, appears to be preferred.

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Researchers have found that multiple myeloma patients with a genetic variation in the gene FOPNL die on average 1-3 years sooner than patients without it. The finding was identified with a genetic mapping technique, genome wide association studies (GWAS), and verified in patient populations from North America and Europe. Published in Nature Communications, this was the first study to survey the entire human genome for genetic variation influencing survival, and is a first step toward applying precision medicine to multiple myeloma.

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Differences in the routines of individual providers drives variation in antibiotic prescribing, more than differences in patient characteristics, standards of practice at different hospitals, or clinical settings (emergency department, primary care, urgent care). The report, published in the Annals of Internal Medicine, is an important step toward understanding the problem of antibiotic overuse, a major public health concern given the rise in antibiotic-resistant “superbugs”.

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The National Cancer Institute (NCI) has awarded Huntsman Cancer Institute (HCI) at the University of Utah its Comprehensive Cancer Center status, the highest designation possible. The announcement was made today in an award letter from NCI to Dr. Mary Beckerle, HCI’s CEO and director. The award was the result of an extensive review process that culminated in a full-day on-site visit by national cancer research experts and thought leaders in the fourth quarter of 2014.

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Despite an increasing ease in acquiring genetic information, the American Society of Human Genetics (ASHG) points out that doing so has consequences, particularly when it comes to children. It is this population, they say, that is the most vulnerable. With this precaution in mind, the ASHG Workgroup on Pediatric Genetic and Genomic Testing has issued guidelines for genetic testing in children and adolescents that are based on a thorough review of studies on ethical, legal, and social implications (ELSI). The recommendations were published in The American Journal of Human Genetics.

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Following surgery, up to 22 percent of surgical patients experience unexpected complications and must be readmitted for post-operative care. A study led by the University of Utah suggests that for these patients, returning to the same hospital is important for recovery. Readmission to a different hospital was associated with a 26 percent increased risk for dying within 90 days. The results, published in The Lancet, have implications for patients who take part in domestic medical tourism.

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Genomics England announced that it will be using technology co-developed in a partnership between the University of Utah and Omicia to interpret the DNA of Britons as part of the 100,000 Genomes Project, a national effort to hasten creation of diagnostics and treatments that are tailored to a person’s genetic make-up. The VAAST (Variant Annotation, Analysis and Search Tool) and Phevor (Phenotype Driven Variant Ontological Re-ranking tool) algorithms are core components of the Omicia Opal platform, which transforms genomic data into clinically relevant information.

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Constraints in federal funding, compounded by declining clinical revenue, jeopardize more than the nation’s research enterprise. These twin pressures have created a “hostile working environment” that erodes time to conduct research, “discourages innovative high-risk science” and threatens to drive established and early-career scientists out of the field. And this, in turn, undermines patient care, proclaimed deans of leading academic medical centers from across the U.S. The group commentary was published in Science Translational Medicine on Wednesday.

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The culmination of two decades of research, a new study reveals the genetic causes of a curious, rare syndrome that manifests as hypertension (high blood pressure) accompanied by short fingers (brachydactyly type E). Six, unrelated families with the syndrome come from across the globe – United States, Turkey, France, South America, and two from Canada – yet share mutations that cluster in a small region of phosphodiesterase 3A (PDE3A). Functional studies imply the mutations change resistance of blood vessels, an underappreciated mechanism for regulating blood pressure. The findings, published in Nature Genetics, suggest new directions for investigating causes of hypertension in the general population.

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A new study suggests that engaging in low intensity activities such as standing may not be enough to offset the health hazards of sitting for long periods of time. On the bright side, adding two minutes of walking each hour to your routine just might do the trick. These findings were published in the Clinical Journal of the American Society of Nephrology (CJASN).

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Study shows they're five times more likely to have enrolled in a Social Security disability assistance program.

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University of Utah scientists have uncovered patterns of DNA anomalies that predict a woman’s outcome significantly better than tumor stage. In addition, these patterns are the first known indicator of how well a woman will respond to platinum therapy. Published in the journal PLOS ONE, the patterns were discovered by using a new mathematical technique in the analysis of DNA profiles from the Cancer Genome Atlas, a national database containing data from hundreds of ovarian cancer patients.

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Compared to other types of breast cancer, triple negative breast cancers are often more aggressive and have fewer treatment options. In a new study published in the journal Proceedings of the National Academy of Sciences (PNAS), researchers at Huntsman Cancer Institute and the University of Utah have identified a molecular mechanism that triple negative breast cancer cells use to survive and grow.

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The prevalence of attention deficit hyperactivity disorder (ADHD) decreases substantially as altitude increases

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Martin McMahon, Ph.D., joins Huntsman Cancer Institute (HCI) at the University of Utah in August as Professor in the Department of Dermatology and HCI Senior Director of Pre-Clinical Translation.

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Although many genetic mutations have been linked to CDH, a new study from the University of Utah School of Medicine is the first to demonstrate a linkage between genetic variation and a physiological mechanism that gives rise to defects in the diaphragm. The research points to a crucial role for connective tissue in CDH, and in guiding normal development of the diaphragm. These findings will be published March 25, 2015, in Nature Genetics.

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To investigate specific causes of childhood CAP, University of Utah Health Sciences and other institutions collaborated with the Centers for Disease Control and Prevention (CDC) on the largest study of its kind, the Etiology of Pneumonia in the Community (EPIC). Among children under age 18, 73 percent of those with pneumonia had viral infections and 15 percent had bacterial infections. Respiratory syncytial virus (RSV) was the most commonly detected pathogen. The results were published in The New England Journal of Medicine.

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In a study with chronic adolescent and adult meth users in South Korea, MRI brain scans showed decreased thickness in the gray matter of younger users’ frontal cortex. Adult brains showed less damage.