Research advances from the National Institutes of Health (NIH) Intramural Research Program (IRP) often make headlines. Read the news releases that describe our most recent findings:
Saxophonist Joey Berkley was living his dream: he was playing jazz in New York City. But about 20 years ago, he noticed his left hand wasn’t cooperating. It got worse and worse.
“As soon as I picked my horn up and touched — literally just touched my horn — my hands would twist into pretzel shapes,” Berkley recalled in a conversation with Morning Edition host A Martinez.
Berkley was experiencing focal dystonia, a movement disorder marked by involuntary muscle contractions.
He said he “muscled through it” as best he could. But that meant he wasn’t just pressing down on the keys of his sax — he was crushing them. “My fingers would literally be bleeding afterwards,” he said. “I had to quit playing.”
Joey Berkley learned of an experimental procedure at the National Institutes of Health in Bethesda, Maryland, that involved placing an electrode directly into his brain.
Researchers from the National Institutes of Health (NIH) have discovered the source of dysfunction in the process whereby cells in the eye's retina remove waste.
A report by scientists at NIH and Johns Hopkins University, Baltimore, details how alterations in a factor called AKT2 affects the function of organelles called lysosomes and results in the production of deposits in the retina called drusen, a hallmark sign of dry age-related macular degeneration (AMD). According to the researchers, the findings suggest drusen formation is a downstream effect of AKT2-related lysosome dysfunction and points to a new target for therapeutic intervention.
Lysosomes are like cells' garbage disposals, and they play a crucial role in maintaining the eye's light-sensing retina. Key cells that make up the retinal pigment epithelium (RPE) provide oxygen and nutrients to the retina's energetically active neurons. They also collect and processes the retina’s waste products through lysosomes. Failure in the cells’ ability to process these waste products leads to the formation of drusen. As AMD progresses, drusen increase in number and volume. But despite intensive research, drusen formation is still largely a mystery.
AI model scored well on medical diagnostic quiz, but made mistakes explaining answers
Researchers at the National Institutes of Health (NIH) found that an artificial intelligence (AI) model solved medical quiz questions — designed to test health professionals’ ability to diagnose patients based on clinical images and a brief text summary — with high accuracy. However, physician-graders found the AI model made mistakes when describing images and explaining how its decision-making led to the correct answer. The findings, which shed light on AI’s potential in the clinical setting, were published in npj Digital Medicine. The study was led by researchers from NIH’s National Library of Medicine (NLM) and Weill Cornell Medicine, New York City.
“Integration of AI into health care holds great promise as a tool to help medical professionals diagnose patients faster, allowing them to start treatment sooner,” said NLM Acting Director, Stephen Sherry, Ph.D. “However, as this study shows, AI is not advanced enough yet to replace human experience, which is crucial for accurate diagnosis.”
The AI model and human physicians answered questions from the New England Journal of Medicine (NEJM)’s Image Challenge. The challenge is an online quiz that provides real clinical images and a short text description that includes details about the patient’s symptoms and presentation, then asks users to choose the correct diagnosis from multiple-choice answers.
GPT-4V, an AI model, often made mistakes when describing the medical image and explaining its reasoning behind the diagnosis — even in cases where it made the correct final choice.
NIH-funded study highlights importance of health disparities research
Self-reported sexual and gender minorities (SGM) — individuals who identify as gay, lesbian, bisexual, queer, transgender, non-binary, or gender-diverse — are twice as likely to report active epilepsy compared to non-SGM individuals, based on a National Institutes of Health (NIH) analysis of data from the population-based National Health Information Survey. 'Active epilepsy' means a person has been diagnosed with epilepsy and has had more than one seizure in the past year or are currently taking anti-seizure medication.
This study suggests that epilepsy could be added to the growing number of neurological health disparities experienced by SGM individuals and other minoritized communities. The potential causes of this increase in prevalence are unknown.
The authors note limitations of the study. The survey relies on self-reporting of SGM and epilepsy status, about which some may have been reluctant to report, even when responding anonymously. The survey data analyzed in this study are from 2022, the first year in which questions about current gender identity, sexual orientation, and sex assigned at birth were included.
NIH study highlights need for greater education, training, and policies to increase adoption of evidence-based care for addiction among physicians
A new study has identified the top reasons why some physicians may be reluctant to intervene in addiction. The comprehensive review, pulling 283 studies published on this topic within the last 61 years, showed that “institutional environment” was the reason most frequently reported in these studies. “Institutional environment” refers to factors like lack of support from a physician’s institution or employer; insufficient resources, such as staff and training; challenges in organizational culture; and competing demands. This reason was cited in 81% of the studies reviewed, followed by insufficient skill (74%), lack of cognitive capacity to manage a certain level of care (74%), and inadequate knowledge (72%).
Around 66% of studies cited negative social influences — or beliefs about public and community acceptance of addiction care — while 56% of studies cited fear of harming the patient-physician relationship as deterrents for physicians to intervene in addiction. These may represent the manifestation of stigma associated with substance use disorder, the authors say. Reimbursement concerns for the cost of delivering addiction interventions were also observed.
The study’s findings point to the need for institution-wide changes to improve the adoption of evidence-based substance use disorder treatment practices among physicians. These changes include increasing organizational support, leadership and staff buy-in, and education and training. The study, published in JAMA Network Open, was led and funded by the National Institute on Drug Abuse (NIDA) of the National Institutes of Health.
“People with substance use disorders must be able to access compassionate and evidence-based care at any touchpoint they have with a health care provider,” said Nora D. Volkow, M.D., Director of NIDA. “To make that vision a reality, clinicians across all medical disciplines need greater training, resources, and support in caring for people with addiction, so that they feel prepared to proactively offer prevention, screening, treatment, harm reduction, and other tools that can help save lives.”
NIH-funded study of conduct disorder identifies new brain areas associated with the disorder, offering future directions for research efforts and clinical practice
A neuroimaging study of young people who exhibit a persistent pattern of disruptive, aggressive, and antisocial behavior, known as conduct disorder, has revealed extensive changes in brain structure. The most pronounced difference was a smaller area of the brain’s outer layer, known as the cerebral cortex, which is critical for many aspects of behavior, cognition and emotion. The study, co-authored by researchers at the National Institutes of Health (NIH), is published in The Lancet Psychiatry.
“Conduct disorder has among the highest burden of any mental disorder in youth. However, it remains understudied and undertreated. Understanding brain differences associated with the disorder takes us one step closer to developing more effective approaches to diagnosis and treatment, with the ultimate aim of improving long-term outcomes for children and their families,” said co-author Daniel Pine, M.D., chief of the Section on Development and Affective Neuroscience in NIH’s National Institute of Mental Health. “Critical next steps are to follow children over time to determine if differences in brain structure seen in this study are a cause of conduct disorder or a long-term consequence of living with the disorder.”
A collaborative group of researchers examined standardized MRI data from youth ages 7 to 21 who had participated in 15 studies from around the world. Analyses compared the surface area and thickness of the cerebral cortex and the volume of deeper subcortical brain regions between 1,185 youth diagnosed with conduct disorder and 1,253 youth without the disorder. Additional analyses compared the cortical and subcortical brain measures between boys and girls, age of symptom onset (childhood vs. adolescence), and level of empathy and other prosocial traits (high vs. low).
Brain plots showing regions with significant group differences between youth with and without conduct disorder.
New analysis shows benefit of taking AREDS2 formula in late AMD
In a new analysis of data, researchers at the National Institutes of Health (NIH) have found that taking a daily supplement containing antioxidant vitamins and minerals slows progression of late-stage dry age-related macular degeneration (AMD), potentially helping people with late-stage disease preserve their central vision. Researchers reviewed the original retinal scans of participants in the Age-Related Eye Diseases Studies (AREDS and AREDS2) and found that, for people with late-stage dry AMD, taking the antioxidant supplement slowed expansion of geographic atrophy regions towards the central foveal region of the retina. The study was published in the journal Ophthalmology.
“We’ve known for a long time that AREDS2 supplements help slow the progression from intermediate to late AMD. Our analysis shows that taking AREDS2 supplements can also slow disease progression in people with late dry AMD,” said Tiarnan Keenan, M.D., Ph.D., of NIH’s National Eye Institute (NEI) and lead author of the study. “These findings support the continued use of AREDS2 supplements by people with late dry AMD.”
Age-related macular degeneration affects the macula, the part of the retina that provides central vision.
NIH researchers achieved tumor shrinkage in three of seven patients with colorectal cancers
Early findings from a small clinical trial provide evidence that a new cellular immunotherapy approach may be effective in treating metastatic solid tumors. In the trial, researchers from the National Institutes of Health (NIH) genetically engineered normal white blood cells, known as lymphocytes, from each patient to produce receptors that recognize and attack their specific cancer cells. These initial findings are from people with metastatic colorectal cancer who had already undergone multiple earlier treatments. The personalized immunotherapy shrank tumors in some patients and was able to keep the tumors from regrowing for up to seven months. The findings were published July 11, 2024, in Nature Medicine.
One form of cellular immunotherapy, chimeric antigen receptor (CAR) T-cell therapy, has already been shown to be effective against some blood cancers, and another, called tumor-infiltrating lymphocyte (TIL) therapy, has proven to be effective against metastatic melanoma. However, to date, a cellular therapy that’s effective against any other solid cancers has been elusive, according to Steven A. Rosenberg, M.D., Ph.D., of NCI’s Center for Cancer Research (CCR), who co-led the study with Maria Parkhurst, Ph.D., of CCR’s Surgery Branch.
“The fact that we can take a growing metastatic solid cancer and get it to regress shows that the new cellular immunotherapy approach has promise,” Dr. Rosenberg said. “However, it’s important to understand that these findings are preliminary and that the approach needs to be further refined and tested in more types of solid cancers.”
Cross-sectional CT images showing a metastatic tumor in the left lung of a patient (top image) and no tumor following treatment (bottom image).
The findings in non-human primates could shed light on how our brains develop facial recognition skills
Scientists at the National Institutes of Health (NIH) have uncovered a brain circuit in primates that rapidly detects faces. The findings help not only explain how primates sense and recognize faces, but could also have implications for understanding conditions such as autism, where face detection and recognition are often impaired from early childhood. The newly discovered circuit first engages an evolutionarily ancient part of the brain called the superior colliculus, which can then trigger the eyes and head to turn for a better look. This better view enables different brain areas in the temporal cortex to engage in more complex facial recognition. The study was published in the journal Neuron.
“Quick recognition of faces is a key skill in humans and other primates,” said Richard Krauzlis, Ph.D., of NIH’s National Eye Institute (NEI) and senior author of the study. “This newly discovered circuit explains how we’re able to quickly detect and look at faces, even if they first show up in the peripheral visual field where visual acuity is poor. This circuit could be what spotlights faces to help the brain learn to recognize individuals and understand complex facial expressions, helping us acquire important social interaction skills.”
Researchers Gongchen Yu, Ph.D., Leor Katz, Ph.D., and Richard Krauzlis, Ph.D. have uncovered a brain circuit in primates that rapidly detects faces.
Findings come from an NIH analysis of more than two decades of dietary data from 390,124 U.S. adults
A large analysis of data from nearly 400,000 healthy U.S. adults followed for more than 20 years has found no association between regular multivitamin use and lower risk of death. The study, led by researchers at the National Institutes of Health’s National Cancer Institute, was published June 26, 2024, in JAMA Network Open.
Many adults in the United States take multivitamins with the hope of improving their health. However, the benefits and harms of regular multivitamin use remain unclear. Previous studies of multivitamin use and mortality have yielded mixed results and been limited by short follow-up times.
To more deeply explore the relationship between long-term regular multivitamin use and overall mortality and death from cardiovascular disease and cancer, the researchers analyzed data from three large, geographically diverse prospective studies involving a total of 390,124 U.S. adults who were followed for more than 20 years. The participants included in this analysis were generally healthy, with no history of cancer or other chronic diseases.
Combination therapy developed by NIH researchers demonstrates the power of precision medicine
Researchers at the National Institutes of Health (NIH) have developed a non-chemotherapy treatment regimen that is achieving full remissions for some people with aggressive B-cell lymphoma that has come back or is no longer responding to standard treatments. The five-drug combination targets multiple molecular pathways that diffuse large B-cell lymphoma (DLBCL) tumors use to survive.
In a clinical trial at NIH’s National Cancer Institute, researchers tested the combination of venetoclax, ibrutinib, prednisone, obinutuzumab, and lenalidomide (called ViPOR) in 50 patients with DLBCL, the most common type of lymphoma. The treatment shrank tumors substantially in 26 of 48 (54%) evaluable patients, with 18 (38%) of those patients’ tumors disappearing entirely, known as a complete response. At two years, 36% of all patients were alive and 34% were free of disease. These benefits were seen mainly in people with two specific subtypes of DLBCL.
The findings were published June 20, 2024, in the New England Journal of Medicine.
“Many of these patients who stopped responding to standard treatments would have otherwise died within a year, and now we have a good proportion who are still alive past two years, and some past four years,” said Christopher J. Melani, M.D., of NCI’s Center for Cancer Research, who co-led the study. “It’s gratifying to see these long-term remissions and potential cures in patients.”
Before treatment with ViPOR, full-body and cross-sectional PET scans of a patient show large lymphoma tumors (circled in the top two panels). Following treatment, the tumors have disappeared (bottom two panels).
