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.
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.”
Cancer incidence trends in 2021 largely returned to what they were before the COVID-19 pandemic, according to a study by researchers at the National Institutes of Health (NIH). However, there was little evidence of a rebound in incidence that would account for the decline in diagnoses in 2020, when screening and other medical care was disrupted. One exception was breast cancer, where the researchers did see an uptick in diagnoses of advanced-stage disease in 2021. The study appears Sept. 24, 2024, in the Journal of the National Cancer Institute.
A previous study showed that new cancer diagnoses fell abruptly in early 2020, as did the volume of pathology reports, suggesting that many cancers were not being diagnosed in a timely manner. To determine whether these missed diagnoses were caught in 2021, possibly as more advanced cancers, researchers from NIH’s National Cancer Institute (NCI) compared observed cancer incidence rates for 2021 with those expected from pre-pandemic trends using data from NCI’s Surveillance, Epidemiology, and End Results Program.
A full recovery in cancer incidence should appear as an increase over pre-pandemic levels (also known as a rebound) to account for the missed diagnoses. The researchers looked at cancer overall, as well as five major cancer types that vary in how they are typically detected: through screening (female breast and prostate cancer), due to symptoms (lung and bronchus and pancreatic cancer), or incidentally during other medical procedures (thyroid cancer).
Findings in animals suggest a surgery-free treatment for cataracts
Researchers at the National Institutes of Health (NIH) and their collaborators have identified a protein, known as RNF114, that reverses cataracts, a clouding of the eye’s lens that occurs commonly in people as they age. The study, which was conducted in the 13-lined ground squirrel and rats, may represent a possible surgery-free strategy for managing cataracts, a common cause of vision loss. The study published in the Journal of Clinical Investigation.
“Scientists have long searched for an alternative to cataract surgery, which is effective, but not without risk. Lack of access to cataract surgery is a barrier to care in some parts of the world, causing untreated cataracts to be a leading cause of blindness worldwide,” said Xingchao Shentu, M.D., a cataract surgeon and the co-lead investigator from Zhejiang University, China.
This new discovery was part of ongoing research at NIH’s National Eye Institute (NEI) involving a mammalian hibernator, the 13-lined ground squirrel. In these ground squirrels, the light-sensitive photoreceptor cells in the retina are mostly cones, which makes the ground squirrel helpful for studying cone-related properties, such as color vision. In addition, the squirrel’s ability to withstand months of cold and metabolic stress during hibernation make it model for vision scientists to study a range of eye diseases.
NIH clinical trial results expand treatment options for this disease
Results from a large clinical trial show that treatment with an immunotherapy drug may nearly double the length of time people with high-risk, muscle-invasive bladder cancer are cancer-free following surgical removal of the bladder. Researchers found that postsurgical treatment with pembrolizumab (Keytruda), which is approved by the Food and Drug Administration (FDA) for treating at least 18 different cancers, was superior compared with observation. The study, led by researchers at the National Institutes of Health (NIH), was published Sept. 15, 2024, in New England Journal of Medicine.
“This study shows that pembrolizumab can offer patients another treatment option to help keep their disease from coming back,” said lead investigator Andrea B. Apolo, M.D., of NIH’s National Cancer Institute (NCI) Center for Cancer Research. “Extending the time that these patients are cancer-free makes a big difference in their quality of life.”
A diagnosis of muscle-invasive bladder cancer means the tumor in the bladder has invaded into and through the muscular layer of tissue that encases the bladder. The standard treatment for this form of bladder cancer is to surgically remove the entire bladder. To improve the chances of successful surgery and of eliminating any cancer cells that may have already escaped from the tumor, patients are given cisplatin-based chemotherapy for a period before surgery, known as neoadjuvant therapy, or after surgery, known as adjuvant therapy.
Adjuvant pembrolizumab helps people with muscle-invasive bladder cancer remain cancer free longer than with observation alone.
Increased risk among men in disadvantaged neighborhoods may be linked to chronic stress
West African genetic ancestry was associated with increased prostate cancer among men living in disadvantaged neighborhoods but not among men living in more affluent neighborhoods, according to a new study led by researchers at the National Institutes of Health (NIH). The findings suggest that neighborhood environment may play a role in determining how genetic ancestry influences prostate cancer risk. The study was published Sept. 16, 2024, in JAMA Network Open.
In the United States, most Black Americans have West African genetic ancestry, the researchers noted. Previous studies have shown that West African genetic ancestry is linked to increased prostate cancer risk among Black men, whose risk is higher than that of any other U.S. population group. However, it is unclear whether additional factors play a role in determining this ancestry-related risk.
To explore how the neighborhood environment and West African genetic ancestry may act together in influencing prostate cancer risk, researchers at NIH’s Center for Cancer Research at the National Cancer Institute (NCI) conducted a study with long-term follow-up that included 1,469 self-identified Black and White men from the greater Baltimore area. The researchers determined the men’s West African ancestry through genetic markers and neighborhood socioeconomic status through factors such as unemployment rate, income level, and percentage of households in poverty.
Study finds that sickle cell trait is prevalent among diverse human populations
National Institutes of Health (NIH) researchers and collaborators have found that being a carrier for sickle cell disease, known as having sickle cell trait, increases the risk of blood clots, a risk that is the same among diverse human populations that may not traditionally be associated with sickle cell disease. The study provides estimated clinical risks for people with sickle cell trait, which can inform clinical practice guidelines. Researchers examined the largest and most diverse set of people with sickle cell trait to date, which includes data from over 19,000 people of various ancestral backgrounds with sickle cell trait.
The study, published in Blood Advances, was led by researchers at the National Human Genome Research Institute (NHGRI), part of NIH, The Johns Hopkins University School of Medicine, Baltimore, and the company 23andMe, South San Francisco, California.
Previous research investigating the relationship between sickle cell trait and blood clots have only included individuals of African genetic ancestry and self-identified Black participants because of the incorrect assumption that the genetic carrier state only affects those who identify as Black or African American. While sickle cell trait in the United States is most prevalent in individuals who self-identify as Black or African American, individuals from all ancestral backgrounds may have sickle cell trait. Sickle cell trait is often found in individuals living in or from West and Central Africa, Mediterranean Europe, India and the Middle East.
“Because sickle cell trait is often associated with people who identify as Black or African American, it is not widely studied in other populations, a bias that has led to unintended harm for those with sickle cell trait,” says Vence Bonham Jr., J.D., who co-led the study and serves as acting deputy director and associate investigator at NHGRI. “In particular, the racialization of sickle cell trait has resulted in biased estimations of health risks. The results of our study will help clinicians properly contextualize the risk of blood clots amongst people with sickle cell trait without unintended bias.”
NIH study finds lung function remained stable or improved in adults after transplant.
So-called low-intensity blood stem cell transplants, which use milder conditioning agents than standard stem cell transplants, do not appear to damage the lungs and may help improve lung function in some patients with sickle cell disease (SCD), according to a three-year study of adults who underwent the procedure at the National Institutes of Health (NIH).
Damage to lung tissue and worsened lung function is a major complication and leading cause of death in people with sickle cell disease, a debilitating blood disorder. The new study, published today in the Annals of the American Thoracic Society, helps answer whether less intensive types of transplants, which tend to be better tolerated by many adults, by themselves either cause or promote further harm to the lungs.
“By using a low-intensity blood stem cell transplant for sickle cell disease, we may be able to stop the cycle of lung injury and prevent continued damage,” said study lead Parker Ruhl, M.D., an associate research physician and pulmonologist at NIH. “Without the ongoing injury, it’s possible that healing of lung tissue might occur, and this finding should help reassure adults living with sickle cell disease who are considering whether to have a low-intensity stem cell transplant procedure that their lung health will not be compromised by the transplant.”
Approach could have role in preventing malaria in pregnancy
Two National Institutes of Health (NIH)-supported trials of an experimental malaria vaccine in healthy Malian adults found that all three tested regimens were safe. One of the trials enrolled 300 healthy women ages 18 to 38 years who anticipated becoming pregnant soon after immunization. That trial began with drug treatment to remove malaria parasites, followed by three injections spaced over a month of either saline placebo or the investigational vaccine at one of two dosages. Both dosages of the vaccine candidate conferred a significant degree of protection from parasite infection and clinical malaria that was sustained over a span of two years without the need for a booster dose—a first for any malaria vaccine. In an exploratory analysis of women who conceived during the study, the vaccine significantly protected them from malaria in pregnancy. If confirmed through additional clinical trials, the approach modeled in this study could open improved ways to prevent malaria in pregnancy.
Spread by Anopheles mosquitoes, malaria parasites, including those of the species Plasmodium falciparum (Pf), can cause illness in people of any age. However, pregnant women, infants and very young children are especially vulnerable to life-threatening disease. Malarial parasitemia in pregnancy is estimated to cause up to 50,000 maternal deaths and 200,000 stillbirths in Africa each year.
The trials were co-led by investigators from the NIH’s National Institute of Allergy and Infectious Diseases (NIAID) and the University of Sciences, Techniques and Technologies, Bamako (USTTB), Mali. The investigational vaccine used in both trials was PfSPZ Vaccine, a radiation-attenuated vaccine based on Pf sporozoites (a stage of the parasite’s lifecycle), manufactured by Sanaria Inc., Rockville, Maryland. Multiple previous clinical trials of PfSPZ Vaccine have shown it to be safe, including in malaria-endemic countries such as Mali. In results published in 2022, for example, an NIAID-sponsored, placebo-controlled trial of a three-dose regimen of PfSPZ Vaccine in Burkina Faso found that the vaccine had up to 46% efficacy that lasted at least 18 months.
NIH researchers find that large language models rely on concise, textbook-like language to evaluate medical questions
National Institutes of Health (NIH) researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health. These findings, reported in the American Journal of Human Genetics, demonstrate the need to improve these AI tools before they can be applied in health care settings to help make diagnoses and answer patient questions.
The researchers studied a type of AI known as a large language model, which is trained on massive amounts of text-based data. These models have the potential to be very helpful in medicine due to their ability to analyze and respond to questions and their often user-friendly interfaces.
“We may not always think of it this way, but so much of medicine is words-based,” said Ben Solomon, M.D., senior author of the study and clinical director at the NIH’s National Human Genome Research Institute (NHGRI). “For example, electronic health records and the conversations between doctors and patients all consist of words. Large language models have been a huge leap forward for AI, and being able to analyze words in a clinically useful way could be incredibly transformational.”
