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:
The act of cooking offers the chance to unwind and create something special, whether you’re planning to feed a crowd or just yourself. And while you may have noticed feeling good after whipping up that perfect pie or braise, there’s actually a lot of scientific data to suggest that cooking can have a positive impact on mental health.
One meta-analysis (a report of pre-existing research) from the National Institutes of Health looked at 11 studies and found that “cooking interventions” — encouraging people to follow certain recipes or giving people cooking classes — can improve a person’s mental well-being. It specifically found that people who participated in cooking interventions reported having better self-esteem and quality of life, as well as a more positive emotional state after the fact. Another study even discovered that baking can help raise a person’s confidence level.
Findings from NIH study suggest early intervention may prevent adult obesity associated with heavier birthweight
Fetuses of pregnant people who gained excess weight in the first trimester of pregnancy show signs of excess fat distribution in the upper arm and in the abdomen, according to a study by researchers at the National Institutes of Health (NIH). These findings may inform efforts to prevent excessive weight gain early in life, a risk factor for adult obesity and related conditions, such as heart disease, high blood pressure and diabetes. The study, conducted by researchers at NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development and other institutions, appears in the American Journal of Clinical Nutrition.
The authors analyzed data from an earlier study of more than 2,600 singleton pregnancies, which included information on maternal weight before and during pregnancy and three-dimensional (3D) ultrasound scans (up to five) throughout pregnancy. The authors found that pregnant people with excessive weight gain — defined as more than 2 kilograms (about 4.4 pounds) in the first trimester — had fetuses with larger abdominal circumference and abdominal area and larger fetal arm fat thickness, when compared to pregnant people with adequate weight gain. Fetuses from the excessive weight gain group continued to have greater arm thickness and abdominal measurements through the end of pregnancy, even when weight gain was not considered excessive during the second and third trimesters. In contrast, most previous studies have not examined fetal 3D measures during pregnancy and have only linked total weight gain across pregnancy, not just in the first trimester, with birthweight.
New antibodies could lead to next generation of interventions against malaria
A novel class of antibodies that binds to a previously untargeted portion of the malaria parasite could lead to new prevention methods, according to a study from researchers at the National Institutes of Health (NIH) published today in Science. The most potent of the new antibodies was found to provide protection against malaria parasites in an animal model. The researchers say antibodies in this class are particularly promising because they bind to regions of the malaria parasite not included in current malaria vaccines, providing a potential new tool for fighting this dangerous disease.
Malaria is a life-threatening disease caused by Plasmodium parasites, which are spread through the bites of infected mosquitoes. Although malaria is not common in the United States, its global impact is devastating, with 263 million cases and 597,000 deaths estimated by the World Health Organization in 2023. Of the five species of Plasmodium that cause malaria, Plasmodium falciparum is the most common in African countries where the burden of malaria is largest and where young children account for the majority of malaria deaths. Safe and effective countermeasures are critical for reducing the immense burden of this disease.
In recent years, new interventions have been developed against malaria, including vaccines that currently are being rolled out for young children in regions where the disease is prevalent. Anti-malarial monoclonal antibodies (mAbs) are another promising new tool that have been shown to be safe and efficacious against infection with P. falciparum in adults and children in early clinical trials. The anti-malarial mAbs evaluated in trials in malaria-endemic regions target the P. falciparum sporozoite — the life stage of the parasite that is transmitted from mosquitoes to people. By binding to and neutralizing the sporozoite, the mAbs prevent sporozoites from infecting the liver, where they otherwise develop into blood-stage parasites that infect blood cells and cause disease and death.
Colorized scanning electron micrograph of red blood cell infected with malaria parasites (orange/red/yellow). The small bumps on the infected cell show how the parasite remodels its host cell by forming protrusions called 'knobs' on the surface, enabling it to avoid destruction and cause inflammation. Uninfected cells (teal) have smoother surfaces.
Findings could pave the way for more personalized treatments for cardiovascular disease
National Institute of Health (NIH) scientists have made a significant breakthrough in understanding how "bad" cholesterol, known as low-density lipoprotein-cholesterol or LDL-C, builds up in the body. The researchers were able to show for the first time how the main structural protein of LDL binds to its receptor – a process that starts the clearing of LDL from the blood – and what happens when that process gets impaired.
The findings, published in Nature, further the understanding of how LDL contributes to heart disease, the world’s leading cause of death, and could open the door to personalizing LDL-lowering treatments like statins to make them even more effective.
“LDL is one of the main drivers of cardiovascular disease which kills one person every 33 seconds, so if you want to understand your enemy, you want to know what it looks like,” said Alan Remaley, M.D., Ph.D., co-senior author on the study who runs the Lipoprotein Metabolism Laboratory at NIH’s National Heart, Lung, and Blood Institute.
NIH modeling study looked at the individual and combined impacts of cancer prevention, screening, and treatment
Improvements in cancer prevention and screening have averted more deaths from five cancer types combined over the past 45 years than treatment advances, according to a modeling study led by researchers at the National Institutes of Health (NIH). The study, published Dec. 5, 2024, in JAMA Oncology, looked at deaths from breast, cervical, colorectal, lung, and prostate cancer that were averted by the combination of prevention, screening, and treatment advances. The researchers focused on these five cancers because they are among the most common causes of cancer deaths and strategies exist for their prevention, early detection, and/or treatment. In recent years, these five cancers have made up nearly half of all new cancer diagnoses and deaths.
"Although many people may believe that treatment advances are the major driver of reductions in mortality from these five cancers combined, the surprise here is how much prevention and screening contribute to reductions in mortality," said co-lead investigator Katrina A. B. Goddard, Ph.D., director of NCI’s Division of Cancer Control and Population Sciences. “Eight out of 10 deaths from these five cancers that were averted over the past 45 years were due to advances in prevention and screening.”
A single prevention intervention, smoking cessation, contributed the lion’s share of the deaths averted: 3.45 million from lung cancer alone. When considering each cancer site individually, prevention and screening accounted for most deaths averted for cervical, colorectal, lung, and prostate cancer, whereas treatment advances accounted for most deaths averted from breast cancer.
NIH study finds some abnormal results due to colorectal, breast, lung and pancreatic cancers
Researchers at the National Institutes of Health (NIH) found previously undetected cancers in 48.6% of pregnant people who had abnormal results for prenatal cell-free DNA (cfDNA) testing used to screen for chromosomal disorders in the fetus. Cancers included colorectal, breast, lung and pancreatic cancers, as well as lymphoma, cholangiocarcinoma and renal carcinoma. The screening test analyzes placental DNA fragments circulating in the maternal bloodstream to identify an extra chromosome or to determine the baby’s sex. The study appears in the New England Journal of Medicine.
In addition to fetal DNA, cfDNA testing detects DNA released from the mother’s red blood stem cells and, occasionally, abnormal DNA that may result from an undetected cancer in the asymptomatic pregnant person. NIH’s ongoing IDENTIFY study seeks to learn more about abnormal cfDNA test results that could indicate potential cancers. For the current analysis, researchers performed cancer screening of 107 IDENTIFY participants using whole body magnetic resonance imaging (MRI), standard medical diagnostic tests, and cfDNA sequencing. A total of 52 participants were diagnosed with cancer. For this group, the authors found that whole body MRI was the most effective method for detecting cancer. Standard diagnostic techniques, such as taking a medical history, assessing symptoms, and physical examination, were of limited use in identifying a participant’s cancer or its location.
Other abnormal cfDNA results were attributed to fibroids (benign uterine tumors), placental chromosomes that differed from fetal chromosomes, and clonal hematopoiesis in the mother (a precancerous state that can lead to blood cancers). The researchers noted the need for additional studies to validate cfDNA sequencing patterns described by the investigators that could indicate cancer in this young, pregnant population without obvious clinical symptoms.
Such an algorithm may save clinicians time and accelerate clinical enrollment and research
Researchers from the National Institutes of Health (NIH) have developed an artificial intelligence (AI) algorithm to help speed up the process of matching potential volunteers to relevant clinical research trials listed on ClinicalTrials.gov. A study published in Nature Communications found that the AI algorithm, called TrialGPT, could successfully identify relevant clinical trials for which a person is eligible and provide a summary that clearly explains how that person meets the criteria for study enrollment. The researchers concluded that this tool could help clinicians navigate the vast and ever-changing range of clinical trials available to their patients, which may lead to improved clinical trial enrollment and faster progress in medical research.
A team of researchers from NIH’s National Library of Medicine (NLM) and National Cancer Institute harnessed the power of large language models (LLMs) to develop an innovative framework for TrialGPT to streamline the clinical trial matching process. TrialGPT first processes a patient summary, which contains relevant medical and demographic information. The algorithm then identifies relevant clinical trials from ClinicalTrials.gov for which a patient is eligible and excludes trials for which they are ineligible. TrialGPT then explains how the person meets the study enrollment criteria. The final output is an annotated list of clinical trials—ranked by relevance and eligibility—that clinicians can use to discuss clinical trial opportunities with their patient.
“Machine learning and AI technology have held promise in matching patients with clinical trials, but their practical application across diverse populations still needed exploration,” said NLM Acting Director, Stephen Sherry, PhD. “This study shows we can responsibly leverage AI technology so physicians can connect their patients to a relevant clinical trial that may be of interest to them with even more speed and efficiency.”
Findings could point to new ways to treat RAS-driven cancers
Researchers at the National Institutes of Health (NIH) and their collaborators have discovered a new way in which RAS genes, which are commonly mutated in cancer, may drive tumor growth beyond their well-known role in signaling at the cell surface. Mutant RAS, they found, helps to kick off a series of events involving the transport of specific nuclear proteins that lead to uncontrolled tumor growth, according to a study published Nov. 11, 2024, in Nature Cancer.
RAS genes are the second most frequently mutated genes in cancer, and mutant RAS proteins are key drivers of some of the deadliest cancers, including nearly all pancreatic cancers, half of colorectal cancers, and one-third of lung cancers. Decades of research have shown that mutant RAS proteins promote the development and growth of tumors by activating specific proteins at the cell surface, creating a constant stream of signals telling cells to grow.
“This is the first study to show that mutated RAS genes can promote cancer in an entirely new way,” said study author Douglas Lowy, M.D., deputy director of NIH’s National Cancer Institute (NCI). “The finding of the additional role for RAS proteins has exciting implications for improving treatment.”
Mutant RAS helps release EZH2 from a protein complex transported from the nucleus to the cytoplasm. Once released, EZH2 facilitates the breakdown of the DLC1 tumor suppressor protein, leading to uncontrolled tumor growth. Image created with BioRender.
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana and Nigeria. Their study demonstrated that having just one risk variant in a gene known as APOL1 can significantly increase the risk of developing kidney disease. APOL1 is important for the immune system and variants of the gene are linked to increased risk of chronic kidney disease. The study is published in the New England Journal of Medicine and was conducted by researchers from the Human Heredity and Health in Africa (H3Africa) Kidney Disease Research Network.
Previous research established that genomic variants in APOL1 increase the risk of developing chronic kidney disease among African Americans. However, not much is known about how these genomic variants affect people from West African countries, where many African Americans derive genetic ancestry. Studying how these genomic variants contribute to chronic kidney disease in West Africans and people with West African ancestry can also help inform the risk of kidney disease in many Americans.
“Our study provides data about West Africans that will help us better understand the risk of chronic kidney disease associated with APOL1 variants,” said Adebowale A. Adeyemo, M.B.B.S., who is a co-author of the study and is the deputy director and chief scientific officer of the Center for Research on Genomics and Global Health at NIH’s National Human Genome Research Institute (NHGRI). “By comparing this study to previous studies involving the African American population, we can gain a deeper understanding of the effects of these high risk APOL1 variants. Knowing your genetic risk for a disease, such as kidney disease, can help you make more informed decisions about your health and potentially lead to earlier interventions.”
Previous research established that genomic variants in APOL1 increase the risk of developing chronic kidney disease among African Americans.
NIH-supported findings pave the way for genetic testing, clinical trials, and therapy development
Scientists at the National Institutes of Health (NIH) and their colleagues have identified a gene responsible for some inherited retinal diseases (IRDs), which are a group of disorders that damage the eye’s light-sensing retina and threatens vision. Though IRDs affect more than 2 million people worldwide, each individual disease is rare, complicating efforts to identify enough people to study and conduct clinical trials to develop treatment. The study’s findings published today in JAMA Ophthalmology.
In a small study of six unrelated participants, researchers linked the gene UBAP1L to different forms of retinal dystrophies, with issues affecting the macula, the part of the eye used for central vision such as for reading (maculopathy), issues affecting the cone cells that enable color vision (cone dystrophy) or a disorder that also affects the rod cells that enable night vision (cone-rod dystrophy). The patients had symptoms of retinal dystrophy starting in early adulthood, progressing to severe vision loss by late adulthood.
“The patients in this study showed symptoms and features similar to other IRDs, but the cause of their condition was uncertain,” said Bin Guan, Ph.D., chief of the Ophthalmic Genomics Laboratory at NIH’s National Eye Institute (NEI) and a senior author of the report. “Now that we’ve identified the causative gene, we can study how the gene defect causes disease and, hopefully, develop treatment.”
Ophthalmic images from the study probands exhibit variable forms of retinal dystrophy.
NIH findings highlight critical gaps in treatment access in correctional facilities, where almost two-thirds of people have a substance use disorder
A new look into addiction treatment availability in the U.S. criminal justice system reveals that fewer than half (43.8%) of 1,028 jails surveyed across the nation offered any form of medication for opioid use disorder, and only 12.8% made these available to anyone with the disorder. With two-thirds of people who are incarcerated in U.S. jails experiencing a substance use disorder — in many cases, an opioid use disorder — the failure to make these medications widely available in criminal justice settings represents a significant missed opportunity to provide life-saving treatments in an environment where people in need of care can be easily reached.
The study, published in JAMA Network Open and supported by NIH’s National Institute on Drug Abuse (NIDA), also found that most jails did offer some type of substance use disorder treatment or recovery support (70.1%). The most common reason jails cited for not offering medications for opioid use disorder was lack of adequate licensed staff (indicated by 49.8% of jails). In general, larger jails, those in counties with lower 'social vulnerability' (lower levels of poverty and unemployment, and greater education, housing, and transportation access), and those with greater proximity to community-based providers of medications for opioid use disorder were more likely to offer these treatments.
“Offering substance use disorder treatment in justice settings helps to break the debilitating — and often fatal — cycle of addiction and incarceration,” said NIDA Director Nora D. Volkow, M.D. “Though someone may be in jail for only a short time, connecting them to addiction treatment while they are there is critical to reduce risk of relapse and overdose, and to help them achieve long-term recovery.”
