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October 9, 2017 : Nature Genetics

Researchers are reporting discovery of a dozen new genes associated with congenital heart disease (CHD), the leading cause of death from birth defects. Their findings are based on an analysis of clinical and genetic data from more than 2,800 people with CHD as well as information from parents.  The study, which appears in Nature Genetics, is funded by NHLBI. It is supported by the NHLBI Pediatric Cardiac Genomics Consortium, part of the Bench to Bassinet Program, which helps explore the underlying causes of CHD.

UPI: Researchers uncover new genes linked to congenital heart disease

U.S. News & World Report: Surviving Congenital Heart Disease as Child Not a Ticket to Good Health

R&D Magazine: New Congenital Heart Disease Genes Uncovered Study sheds new light on underlying genetic causes of congenital heart disease Congenital Heart Disease Exomes Lead to Risky Rare Inherited Variants, De Novo Mutations

Yale News: Congenital heart disease genes linked to autism and other disorders

October 9, 2017 : Nature Biomedical Engineering

CRISPR-Cas9 is a gene editing tool that shows promise for efficiently repairing damaged DNA in a wide variety of genetic diseases ranging from certain types of heart disease to sickle cell disease. Now, researchers are reporting that simultaneous expression of two molecules used to repair DNA—RAD52 and a dominant-negative form of 53BP1—markedly improves the frequency of precise gene editing using CRISPR Cas9. This new strategy promises to overcome significant bottlenecks that limit the full potential of CRISPR-Cas9 for precision medicine, the researchers say. Their study, published at Nature Biomedical Engineering, was partly funded by NHLBI.

October 6, 2017 : The Lancet Respiratory Medicine

Researchers are reporting identification of a group of 52 genes in the blood that can help doctors accurately predict survival in patients with idiopathic pulmonary fibrosis (IPF), an incurable disease in which the tissue deep in the lungs becomes thick and scarred over time. The disease, which is hard to diagnose, usually affects middle-aged and older adults.  Having such a tool could help improve management of the disease in these patients, including prioritizing patients for lung transplants.  The study, partly funded by NHLBI, was published in The Lancet Respiratory Medicine.

Pulmonary Fibrosis News: Analysis of 52 Genes Can Accurately Predict IPF Mortality, Study Shows

Lung Disease News: Promising New Diagnostic Tool May Accurately Predict Survival of IPF Patients

Yale News: Genetic risk profile predicts survival for people with severe lung disease

October 4, 2017 : Nature

Researchers are reporting discovery of a new way to reverse heart failure by getting the heart muscle to regenerate itself. The finding focuses on the Hippo pathway, a chemical signaling pathway that coordinates cellular actions. Scientists have known that this pathway is highly active following a heart attack, where it plays a role in preventing heart cells from regenerating.  In a study using lab mice, researchers induced heart attacks in the mice to mimic heart failure in humans. They then turned off the Hippo pathway in the animals for about six weeks.  They found that this shutdown caused their hearts to heal on their own, eventually recovering full function.   The study, published in Nature, is funded by NHLBI.

Newsweek: Advanced Heart Failure Reversed By Newly Discovered Ability for Muscle Cells to Regenerate

Medical News Today: Severe heart failure may be reversible

Medical Xpress: Scientists reverse advanced heart failure in an animal model

FierceBiotech: Scientists reverse heart failure via newly discovered regeneration pathway

Cardiovascular Business: Inhibiting signaling pathway reverses heart failure in mice

Science Daily: Advanced heart failure reversed in an animal model

Baylor College of Medicine News (press release): Scientists reverse advanced heart failure in an animal model

October 3, 2017 : Physical Review Letters

Researchers have discovered that the twisting of molecules of DNA—the body’s blueprint—could play a key role in the sensing and repair of DNA defects, an understanding of which could lead to new insights into disease. Defects in the DNA repair process are associated with several human genetic diseases, including certain cancers, accelerated aging diseases, and some blood disorders.  In the new laboratory study using individual DNA molecules, a research team lead by NHLBI’s Andrew Dittmore demonstrated that the twisted (supercoiled) state of cellular DNA creates kinks that prominently expose DNA defects, making them easier targets for detection and repair by cellular proteins. The finding provides a possible mechanism for how proteins that repair DNA can rapidly detect abnormal base pairs (the molecular building blocks of DNA) from among millions of normal intact base pairs. Their study, which appears in Physical Review Letters, was funded by NHLBI. 

Physics (American Physical Society): Synopsis: Twisting DNA Locates its Defects

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October 3, 2017 : Nature Biomedical Engineering

Researchers are reporting new insights into the genetic and environmental factors that are involved in transforming human pluripotent stem cells into heart cells. Their findings could help guide and improve stem cell research for cardiac regenerative medicine, drug discovery, and precision medicine in the future. Their study, which appears in Nature Biomedical Engineering, was partly funded by NHLBI.

October 2, 2017 : NIH News Release

The 2017 Nobel Prize in Physiology or Medicine has been awarded to National Institutes of Health grantees Jeffrey C. Hall, Michael Rosbash, and Michael W. Young for their groundbreaking discoveries on the molecular mechanisms controlling the circadian rhythm, or the body’s internal biological clock.  Collectively, their discoveries have catalyzed many research breakthroughs related to sleep, health, and disease.  The Royal Swedish Academy of Sciences said, “the paradigm-shifting discoveries by the laureates established key mechanistic principles for the biological clock.” Drs. Young and Rosbash have received continuous funding from NIH since 1975 primarily from NIH’s National Institute of General Medical Sciences (NIGMS) and National Institute of Neurological Disorders and Stroke (NINDS).  Dr. Rosbash’s work has also been supported by NIH’s National Institute on Aging (NIA), National Institute on Drug Abuse (NIDA) and National Heart, Lung, and Blood Institute (NHLBI). NHLBI is home to the National Center on Sleep Disorders Research.

The New York Times: Nobel Prize in Medicine Goes to 3 Americans for Body Clock Studies

CNN: US scientists awarded Nobel in medicine for body clock insights

PBS Newshour:  Three Americans win 2017 Nobel Prize in medicine for research on circadian clocks

NPR: Nobel Prize In Medicine Is Awarded To 3 Americans For Work On Circadian Rhythm

The Washington Post:  Biological clock discoveries by 3 Americans earn Nobel prize



September 26, 2017 : JAMA

Researchers are reporting that genetic testing can lead to safer use of warfarin, a blood thinner that is widely-used for preventing dangerous blood clots.  Although effective, the drug can potentially cause life-threatening bleeding and has caused more emergency room visits for older people over the last decade than any other medication. In the new study, researchers investigated whether genetics-based dosing of the drug—based on certain genetic markers found in the blood—could help predict the best outcome for the patient.  While studying a group of patients who were starting warfarin for elective hip or knee replacement, the scientists compared outcomes for patients whose doses were based on clinical information alone to those whose doses were based on genetic markers combined with clinical factors. The researchers observed fewer adverse events (such as bleeding and clotting) in the group with genetics-based dosing than the group with clinically guided dosing. Their study, which appeared in JAMA, was funded primarily by NHLBI.

Cardiovascular Business: Genetic testing can help determine safest dose of warfarin

GenomeWeb: Genotyping Appears to Offer Warfarin Dosing Edge in New Clinical Trial

Medpage Today: CardioBrief: Genotyping Reduces Adverse Events with Warfarin

NIH Director’s Blog: Precision Medicine: Making Warfarin Safer

NIH Research Matters: Genetic testing improves blood thinner dosing

September 25, 2017 : Nature Chemical Biology

Researchers are reporting development of a new fluorescent tag or marker that will allow scientists to view hidden RNA molecules in cells to better understand their location and function in disease processes. RNA, or ribonucleic acid, is a key molecule that helps translate genes into proteins. The new RNA tag, which they call ‘Corn’ because it causes the RNA structures to emit a yellow glow, will help scientists to better understand the formation of blood vessels, cholesterol metabolism, and other biological processes related to heart disease, they say. Their study, which appears in Nature Chemical Biology, was funded by NHLBI.

September 19, 2017 : JAMA

Researchers are reporting that a multipronged community intervention that targets low-income patients resulted in improved blood pressure control.  The study, which involved about 1,400 uninsured patients in Argentina with uncontrolled blood pressure, used multiple approaches to control hypertension including home blood pressure monitoring, physician care, and weekly text-messaging to promote healthy lifestyle changes. Over the course of 18 months, the group receiving the intervention had a greater decrease in systolic and diastolic blood pressure than patients who received the usual medical care.  The study, published in JAMA, is funded by NHLBI and NIGMS.  

Healio: Multicomponent intervention controls BP in low-income patients

Science Codex: Community intervention among low-income patients results in improved blood pressure control

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