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The Common Fund’s Undiagnosed Diseases Network (UDN) is a research study to improve the level of diagnosis of rare and undiagnosed conditions. In the United States, it has been estimated that approximately 25 million Americans suffer from a rare disorder. The UDN established a nationwide network of clinicians and researchers who use both basic and clinical research to uncover the underlying disease mechanisms associated with these conditions. In its first 20 months, the UDN accepted 601 participants undiagnosed by traditional medical practices. Of those who completed their UDN evaluation during this time, 35% were given a diagnosis. Many of these diagnoses were rare genetic diseases including 31 previously unknown syndromes. The UDN is currently accepting participant applications(link is external)..Five new clinical sites, a new metabolomics core, and increased model organism capabilities among additions.

Tuberculosis (TB) is the leading infectious cause of death worldwide, killing roughly 1.6 million people in 2017. In the past 200 years, TB claimed the lives of more than 1 billion people — more deaths than from malaria, influenza, smallpox, HIV/AIDS, cholera and plague combined.

Recently, the global health community has strengthened its efforts and resolve to tackle this ancient disease. Writing in the Journal of the American Medical Association, Anthony S. Fauci, M.D., director of the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, details the institute’s new strategic plan for building on these current efforts by furthering the understanding of TB and developing and applying cutting-edge tools to fight the disease.

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Researchers say they have discovered a gene mutation that slows the metabolism of sugar in the gut, giving people who have the mutation a distinct advantage over those who do not. Those with the mutation have a lower risk of diabetes, obesity, heart failure, and even death. The researchers say their finding could provide the basis for drug therapies that could mimic the workings of this gene mutation, offering a potential benefit for the millions of people who suffer with diabetes, heart disease, and obesity.

The study, which is largely supported by the National Heart, Lung, and Blood Institute (NHLBI), part of the National Institutes of Health, appears in the Journal of the American College of Cardiology(link is external).

New findings suggest that diet is a major contributor for the increased risk of hypertension in black compared to white Americans. The results, published in the Journal of the American Medical Association, are part of the Reasons for Geographic and Racial Differences in Stroke (REGARDS) study, which looks at the incidence of stroke in approximately 30,000 individuals. The study is funded by the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health.

“This study addresses a lead cause of racial disparity in mortality and identifies potential lifestyle changes that could reduce racial disparities in both stroke and heart disease,” said Claudia Moy, Ph.D., NINDS program director and one of the study authors.

A novel vaccine designed to protect people from both Lassa fever and rabies showed promise in preclinical testing, according to new research published in Nature Communications. The investigational vaccine, called LASSARAB, was developed and tested by scientists at Thomas Jefferson University in Philadelphia; the University of Minho in Braga, Portugal; the University of California, San Diego; and the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health.

Researchers say they have discovered a gene mutation that slows the metabolism of sugar in the gut, giving people who have the mutation a distinct advantage over those who do not. Those with the mutation have a lower risk of diabetes, obesity, heart failure, and even death. The researchers say their finding could provide the basis for drug therapies that could mimic the workings of this gene mutation, offering a potential benefit for the millions of people who suffer with diabetes, heart disease, and obesity.

The study, which is largely supported by the National Heart, Lung, and Blood Institute (NHLBI), part of the National Institutes of Health, appears in the Journal of the American College of Cardiology(link is external).

Researchers identify immune culprits linked to inflammation and bone loss in gum disease

An unhealthy population of microbes in the mouth triggers specialized immune cells that inflame and destroy tissues, leading to the type of bone loss associated with a severe form of gum disease, according to a new study in mice and humans. The research, led by scientists from the National Institute of Dental and Craniofacial Research (NIDCR) at the National Institutes of Health and the University of Pennsylvania School of Dental Medicine, Philadelphia, could have implications for new treatment approaches for the condition. The findings appear online Oct. 17, 2018, in Science Translational Medicine.

Over the past five years, more Americans of all ages are rolling out their yoga mats and meditating. A large nationally representative survey shows that the number of American adults and children using yoga and meditation has significantly increased over previous years and that use of chiropractic care has increased modestly for adults and held steady for children.

National Institutes of Health scientists and their collaborators found that hepatitis B virus (HBV)-associated acute liver failure (ALF) — a rare condition that can turn fatal within days without liver transplantation — results from an uncommon encounter between a highly mutated HBV variant and an unusual immune response in the patient’s liver that is mainly sustained by antibody-producing B cells.

Scientists from NIH’s National Institute of Allergy and Infectious Diseases (NIAID) led the project with colleagues from two Italian universities. Their study is published in Proceedings of the National Academy of Sciences.

NIH-funded study suggests that bacteria may regulate neuronal circuits behind movement in flies. A new study puts a fresh spin on what it means to “go with your gut.” The findings, published in Nature, suggest that gut bacteria may control movement in fruit flies and identify the neurons involved in this response

Study links frequent red meat consumption to high levels of chemical associated with heart disease. Researchers have identified another reason to limit red meat consumption: high levels of a gut-generated chemical called trimethylamine N-oxide (TMAO), that also is linked to heart disease.

The study showed for every five years a woman’s biologic age was older than her chronologic or actual age, known as age acceleration, she had a 15 percent increase in her chance of developing breast cancer. The study was published online Feb. 22 in the Journal of the National Cancer Institute.

Analysis of genetic data from more than 94,000 individuals has revealed five new risk genes for Alzheimer’s disease, and confirmed 20 known others. An international team of researchers also reports for the first time that mutations in genes specific to tau, a hallmark protein of Alzheimer’s disease, may play an earlier role in the development of the disease than originally thought. These new findings support developing evidence that groups of genes associated with specific biological processes, such as cell trafficking, lipid transport, inflammation and the immune response, are “genetic hubs” that are an important part of the disease process. The study, which was funded in part by the National Institute on Aging (NIA) and other components of the National Institutes of Health, follows results from 2013. It will be published online February 28, 2019 in the journal Nature Genetics .

The study showed for every five years a woman’s biologic age was older than her chronologic or actual age, known as age acceleration, she had a 15 percent increase in her chance of developing breast cancer. The study was published online Feb. 22 in the Journal of the National Cancer Institute.

The study showed for every five years a woman’s biologic age was older than her chronologic or actual age, known as age acceleration, she had a 15 percent increase in her chance of developing breast cancer. The study was published online Feb. 22 in the Journal of the National Cancer Institute.

NIH-funded discovery uses common antifungal drug to improve lungs’ ability to fight infection.

Researchers say a widely-used antifungal drug may hold promise for treating people with cystic fibrosis, a life-threatening genetic disorder that causes serious damage to the lungs. In studies using human cells and animals models, the researchers found that the medication, called amphotericin, helps lung cells function in a way that could make it easier for patients to fight chronic bacterial lung infections that are a hallmark of the disease. The findings from the study, which was supported in part by the National Heart, Lung, and Blood Institute (NHLBI), part of the National Institutes of Health, will appear in the journal Nature.

Catheter ablation, a common cardiovascular procedure, appears no more effective than drug therapies in preventing strokes, deaths, and other complications in patients with atrial fibrillation. However, patients who get the procedure experience much greater symptom relief and long-term improvements in the quality of life, including fewer recurrences of the condition and fewer hospitalizations, than those who get only drugs. The findings are from two new studies published in the March 15 issue of the Journal of the American Medical Association.

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