Thursday, September 24, 2020
New findings by scientists at the National Institutes of Health and their collaborators help explain why some people with COVID-19 develop severe disease. The findings also may provide the first molecular explanation for why more men than women die from COVID-19.
The researchers found that more than 10% of people who develop severe COVID-19 have misguided antibodies―autoantibodies―that attack the immune system rather than the virus that causes the disease. Another 3.5% or more of people who develop severe COVID-19 carry a specific kind of genetic mutation that impacts immunity. Consequently, both groups lack effective immune responses that depend on type I interferon, a set of 17 proteins crucial for protecting cells and the body from viruses. Whether these proteins have been neutralized by autoantibodies or―because of a faulty gene―were produced in insufficient amounts or induced an inadequate antiviral response, their absence appears to be a commonality among a subgroup of people who suffer from life-threatening COVID-19 pneumonia.
These findings are the first published results from the COVID Human Genetic Effort, an international project spanning more than 50 genetic sequencing hubs and hundreds of hospitals. The effort is co-led by Helen Su, M.D., Ph.D., a senior investigator at the National Institute of Allergy and Infectious Diseases (NIAID), part of NIH; and Jean-Laurent Casanova, M.D., Ph.D., head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at The Rockefeller University in New York. Major contributions were made by Luigi Notarangelo, M.D., chief of the NIAID Laboratory of Clinical Immunology and Microbiology (LCIM); Steven Holland, M.D., director of the NIAID Division of Intramural Research and senior investigator in the NIAID LCIM; clinicians and investigators in hospitals in the Italian cities of Brescia, Monza and Pavia, which were heavily hit by COVID-19; and researchers at the Uniformed Services University of the Health Sciences in Bethesda, Maryland.
Colorized scanning electron micrograph of a cell (blue) heavily infected with SARS-CoV-2 virus particles (red), isolated from a patient sample.
Monday, September 21, 2020
First publication from NIH ME/CFS study takes deep dive into key feature of the disease
One of the major symptoms of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is post-exertional malaise (PEM), the worsening of symptoms after physical or mental activities. Using their own words and experiences, people with ME/CFS described how debilitating PEM can be in a study in Frontiers in Neurology. This is the first publication to come out of the National Institutes of Health’s intramural post-infectious ME/CFS study.
“Post-exertional malaise following normal activities is unique to ME/CFS and we do not understand the biology underlying this severe and harmful feature of the disease,” said Walter Koroshetz, M.D., director of NIH’s National Institute of Neurological Disorders and Stroke (NINDS). “In-depth conversations with people who experienced post-exertional malaise and listening to them describe their individual experiences can provide a perspective not achieved through surveys. This study provides a window into just how much post-exertional malaise can affect a person’s quality of life.”
Researchers led by Avindra Nath, M.D., clinical director of NINDS, recruited 43 individuals with ME/CFS to participate in nine focus groups discussing their experiences with post-exertional malaise, including activities that led to it, how long it lasted, and techniques they used to help decrease their symptoms. Five out of the nine focus groups included participants who experienced PEM following a cardiopulmonary exercise test (CPET), which can measure how the body reacts to exercise and is often conducted using a stationary bike.
Monday, September 14, 2020
A National Institutes of Health-funded study found that people with substance use disorders (SUDs) are more susceptible to COVID-19 and its complications. The research, published today in Molecular Psychiatry, was co-authored by Nora D. Volkow, M.D., director of the National Institute on Drug Abuse (NIDA). The findings suggest that health care providers should closely monitor patients with SUDs and develop action plans to help shield them from infection and severe outcomes.
By analyzing the non-identifiable electronic health records (EHR) of millions of patients in the United States, the team of investigators revealed that while individuals with an SUD constituted 10.3% of the total study population, they represented 15.6% of the COVID-19 cases. The analysis revealed that those with a recent SUD diagnosis on record were more likely than those without to develop COVID-19, an effect that was strongest for opioid use disorder, followed by tobacco use disorder. Individuals with an SUD diagnosis were also more likely to experience worse COVID-19 outcomes (hospitalization, death), than people without an SUD.
“The lungs and cardiovascular system are often compromised in people with SUD, which may partially explain their heightened susceptibility to COVID-19,” said Dr. Volkow. “Another contributing factor is the marginalization of people with addiction, which makes it harder for them to access health care services. It is incumbent upon clinicians to meet the unique challenges of caring for this vulnerable population, just as they would any other high-risk group.”
Colorized scanning electron micrograph of an apoptotic cell (blue) heavily infected with SARS-COV-2 virus particles (yellow), isolated from a patient sample.
Wednesday, September 9, 2020
NIH observational study suggests that the drug may decrease risk of pneumonia and death in this population
The drug miglustat appears to stabilize the swallowing problems that occur in children and adolescents with Niemann-Pick type C1 (NPC1), a rare and ultimately fatal neurological disease, according to a study by researchers at the National Institutes of Health. The authors conclude that the drug could slow the deterioration of swallowing function in NPC1 cases and decrease the risk of pneumonia resulting from aspiration, or inhaling food or drink. Aspiration pneumonia accounts for roughly 2 out of 3 deaths in people with NPC1.
The study was conducted by Forbes D. Porter, M.D., Ph.D., of NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development and colleague in the NIH Clinical Center. It appears in the JAMA Neurology.
NPC1 is a rare genetic disorder that causes a progressive decline in neurological and cognitive functions. Although miglustat is not approved by the Food and Drug Administration to treat NPC1, the drug is thought to stabilize the neurological deterioration seen in the disease and is frequently prescribed to treat it. Previous studies have suggested that by slowing this neurological deterioration, miglustat can stabilize swallowing ability. However, these studies have not documented any specific swallowing improvements for patients.
Wednesday, September 9, 2020
An experimental treatment for eczema that aims to modify the skin microbiome safely reduced disease severity and increased quality of life for children as young as 3 years of age, a National Institutes of Health study has found. These improvements persisted for up to eight months after treatment stopped, researchers report Sept. 9 in Science Translational Medicine.
Atopic dermatitis, commonly called eczema, is a chronic inflammatory skin disease characterized by dry, itchy skin and rashes. The disease is most common in children and is linked to an increased risk of developing asthma, hay fever and food allergy. While available treatments can help manage eczema symptoms, current options can be costly, and many require multiple daily applications.
The experimental therapy contains strains of live Roseomonas mucosa — a bacterium naturally present on the skin — originally isolated from healthy volunteers and grown under carefully controlled laboratory conditions. For four months, clinical trial participants or their caregivers periodically applied this probiotic therapy to areas of skin affected by eczema.
Inner elbow of a child with eczema before Roseomonas mucosa therapy (left) and after four months of treatment (right).
Monday, August 31, 2020
The finding marks a new effort in conserving an ancient dog breed, with potential to inform human vocalization processes
In a study published in PNAS, researchers used conservation biology and genomics to discover that the New Guinea singing dog, thought to be extinct for 50 years, still thrives. Scientists found that the ancestral dog population still stealthily wanders in the Highlands of New Guinea. This finding opens new doors for protecting a remarkable creature that can teach biologists about human vocal learning. The New Guinea singing dog can also be utilized as a valuable and unique animal model for studying how human vocal disorders arise and finding potential treatment opportunities. The study was performed by researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, Cenderawasih University in Indonesia, and other academic centers.
The New Guinea singing dog was first studied in 1897, and became known for their unique and characteristic vocalization, able to make pleasing and harmonic sounds with tonal quality. Only 200–300 captive New Guinea singing dogs exist in conservation centers, with none seen in the wild since the 1970s.
"The New Guinea singing dog that we know of today is a breed that was basically created by people," said Elaine Ostrander, Ph.D., NIH Distinguished Investigator and senior author of the paper. "Eight were brought to the United States from the Highlands of New Guinea and bred with each other to create this group."
Photograph of a Highland Wild Dog taken in Indonesia. Image credit: Anang Dianto, PTFI Papua Province, Indonesia
Thursday, August 27, 2020
A collaborative study conducted by scientists from the National Institutes of Health, Department of Defense (DOD), and multiple academic institutions has identified blood biomarkers that could help to predict which athletes need additional time to recover from a sports related concussion. This collaboration, known as the Concussion Assessment, Research, and Education (CARE) consortium, is supported, in part, by DOD and the National Collegiate Athletic Association (NCAA).
In this study, conducted at several sites across the U.S., 127 male and female collegiate athletes who had sustained a sports-related concussion were tested at several time points: shortly after injury, when their symptoms resolved, and one week after returning to play. Each athlete had also undergone preseason, baseline testing.
Using an ultrasensitive assay that can detect minute amounts of protein, the researchers tested blood serum from these athletes and identified two blood proteins that were associated with the length of time needed by the athletes to return to play. Amounts of these two proteins, tau protein and glial fibrillary acidic protein (GFAP) were found to be significantly different in athletes who needed less or more than 14 days to return. While further research is needed, the results of this study are an important step towards the development of a test that could help predict which athletes need more time to recover from a concussion and resume activity.
Tuesday, August 18, 2020
Opioid use among women trying to conceive may be associated with a lower chance of pregnancy, suggests a National Institutes of Health study. Moreover, opioid use in early pregnancy may be associated with a greater chance of pregnancy loss. The study appears in Epidemiology.
“Our findings indicate that women who are pregnant or planning a pregnancy should, along with their physicians, consider the potential effects opioids may have on their ability to conceive or sustain a pregnancy,” said Kerry Flannagan, Ph.D., the primary author of the study and a postdoctoral researcher in the Division of Intramural Population Health Research at NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.
According to the authors, much of the research on prescription opioid use has focused on the effects of drug dependency. Little information exists on non-habitual, periodic opioid use around the time of conception and early in pregnancy.
Thursday, August 13, 2020
National Institutes of Health Director Francis S. Collins, M.D., Ph.D., has selected Rena N. D’Souza, D.D.S., M.S., Ph.D., as director of NIH’s National Institute of Dental and Craniofacial Research (NIDCR). A licensed dentist, Dr. D’Souza is currently the assistant vice president for academic affairs and education for health sciences at the University of Utah, Salt Lake City. There she also serves as a professor of dentistry, the Ole and Marty Jensen Chair of the School of Dentistry and professor of neurobiology and anatomy, pathology and surgery in the School of Medicine and the Department of Biomedical Engineering. She is expected to begin her new role as the NIDCR director later this year.
“Dr. D’Souza is renowned for her research in craniofacial development, genetics, tooth development and regenerative dental medicine. She has worked as a proponent for NIH for decades, serving on critical advisory committees and as an expert consultant on multiple projects,” said Dr. Collins. “I look forward to having her join the NIH leadership team later this year. I also want to thank NIH Principal Deputy Director Lawrence A. Tabak, D.D.S., Ph.D., for his valuable leadership as the acting director of NIDCR since January 1, 2020.”
As NIDCR director, Dr. D’Souza will oversee the institute’s annual budget of over $475 million, which supports basic, translational and clinical research in areas of oral cancer, orofacial pain, tooth decay, periodontal disease, salivary gland dysfunction, craniofacial development and disorders and the oral complications of systemic diseases. The institute funds approximately 770 grants, 6,500 researchers and 200 organizations. Additionally, NIDCR supports research training and career development programs for approximately 350 people at various stages of their careers, from high school students to independent scientists.
Rena N. D’Souza, D.D.S., M.S., Ph.D.
Wednesday, August 12, 2020
According to a new study, mortality rates from the most common lung cancer, non-small cell lung cancer (NSCLC), have fallen sharply in the United States in recent years, due primarily to recent advances in treatment.
The study was led by researchers at the National Cancer Institute (NCI), part of the National Institutes of Health. The findings were published August 12, 2020, in the New England Journal of Medicine.
“Reduced tobacco consumption in the U.S. has been associated with a progressive decrease in lung cancer deaths that started around 1990 in men and around 2000 in women. Until now, however, we have not known whether newer treatments might contribute to some of the recent improvement,” said Douglas R. Lowy, M.D., NCI deputy director and co-author of this study. “This analysis shows for the first time that nationwide mortality rates for the most common category of lung cancer, non-small cell lung cancer, are declining faster than its incidence, an advance that correlates with the U.S. Food and Drug Administration approval of several targeted therapies for this cancer in recent years.”