IRP Discoveries

Sugar Molecule Could Resolve Rare Diseases

IRP Research Hastens Development of First Treatment for Genetic Muscle Condition

cartoon highlighting one person in a crowd

An old medical adage warns doctors that when they hear hoofbeats, they should first think of horses, not zebras. After all, when someone comes into the hospital with a cough, the most likely explanation is something mundane like the flu. However, some patients truly are medical zebras, affected by a disease that afflicts very few others.

IRP senior investigator Marjan Huizing, Ph.D., has learned quite a bit about those zebras since arriving at the National Human Genome Research Institute (NHGRI) as a postdoctoral fellow in 1998. To help commemorate Rare Disease Day today, Dr. Huizing spoke with the “I Am Intramural” blog about her research on an array of ailments linked to a small sugar molecule called sialic acid, some of which are extremely rare.

Moms’ Caffeine Consumption May Affect Babies’ Brains

Findings Could Explain Why Caffeine Exposure In-Utero Increases Kids’ Risk for Obesity

steaming cup of coffee

Between books, the media, and well-meaning friends and relatives, new parents are inundated with advice about how to set their kids up for a happy and healthy future. However, what parents do before their children are even born can also have a huge impact on how they turn out. For instance, new IRP research suggests that a pregnant woman’s caffeine consumption can rewire her baby’s brain in ways that put the child at increased risk for obesity later in life.

Helping Aging Hearts Get Their Groove Back

IRP Researchers Discover ‘Coupled-Clock’ That Controls Heart Rhythms

heart rate monitor

Like so much about our lives, our hearts slow down as we age. While this slowing is natural, a heartbeat that is too sluggish can lead to heart failure, irregular heartbeats known as arrhythmias, and other problems. IRP senior investigator Edward G. Lakatta, M.D., has changed the paradigm in our understanding of how our hearts keep the beat across our life spans — and what happens when they don’t.

Exercise Energizes Patients With Autoimmune Disease

IRP Study Points to the Biological Roots of Physical Activity’s Benefits

woman exercising on treadmill

British science fiction writer Arthur C. Clarke once wrote that, “Any sufficiently advanced technology is indistinguishable from magic.” While not exactly a “technology,” exercise has such wide-ranging health benefits that it could understandably be mistaken for magic. Still, scientists persist in investigating precisely why physical activity is so good for us. Recently, a small IRP study showed that exercise training can help reduce the debilitating fatigue that often accompanies the autoimmune disease known as lupus, and also illuminated some of the underlying mechanisms that may lead to those benefits.

Creating Cutting-Edge Cancer Vaccines

IRP Research Identifies a Tantalizing Target for Cancer Immunotherapy

person getting vaccine injection

February 4 is World Cancer Day, a time to mark international efforts to prevent, detect, and treat cancer. Immunotherapy, one of the most significant advances in treating cancer, was pioneered here at NIH more than 30 years ago. Today, IRP senior investigator Claudia M. Palena, Ph.D., is pushing cancer immunotherapy forward with the discovery of a novel target for cancer vaccines.

Combination Therapy Shows Increased Effectiveness Against Brain Cancer

Additional Treatment Cuts off Tumor Cells’ Escape Route From Anti-Cancer Drug

MRI showing glioblastoma tumor in the brain

Despite the many therapies that scientists have created to fight cancer, treating the disease is often still a frustrating game of cat and mouse. Just when doctors think they have managed to defeat their wily opponent, it comes roaring back as strong as ever. A new IRP study suggests a two-pronged approach that relies in part on an existing anti-cancer drug could more effectively thwart a particularly deadly form of brain cancer.

Toxic Protein and Aging Combine Forces to Drive Brain Disease

IRP Study Suggests New Therapeutic Targets for Pair of Age-Related Illnesses

older man

Aging wears down all parts of our bodies, from our bones to our brains. It’s no surprise, then, that it’s the main risk factor for neurological illnesses like Parkinson’s disease and dementia. However, the precise reason why has long remained a mystery. New IRP research suggests that the aged brain is a fertile ground for the spread of a harmful protein associated with several neurological diseases, and that the toxic protein itself ages immune cells in the brain.

Friendly Virus Could Deliver Gene Therapy Under Immune System’s Radar

IRP Research Points to New Tool for Alleviating Genetic Disorders

antibodies combatting viral particles

With all the dangerous viruses out there, from the seasonal flu to the novel coronavirus that causes COVID-19, people understandably want to make sure their immune systems are topped-up with disease-fighting antibodies that block viral invaders. However, when it comes to the viruses scientists are modifying to deliver gene therapy, having a robust immune response is actually an obstacle to getting healthy. In a new study, IRP researchers showed that most people’s immune systems don’t react to a particular harmless virus that can effectively deliver new genes to the liver and heart, making it a promising delivery vehicle for therapies designed to alleviate a life-threatening genetic condition.

Boosting Brain Activity to Suppress Snacking

Non-Invasive Stimulation Method May Improve Self-Regulation Around Food

a box of donuts

Marketers make a living from the fact that merely seeing an advertisement for junk food can spur a sudden craving for potato chips or sugary cereal. Some people have an easier time than others resisting such urges, and over-consuming that sort of food can have problematic consequences for health. Findings from a recent IRP study suggest that stimulating a particular part of the brain might help people who struggle with obesity by enhancing their ability to control their desire to snack.

Predicting Risks and Benefits for Lung Cancer Screening

IRP Researchers Refine Tools to Maximize the Benefit from Life-Saving Tests

patient getting a CT scan

Eleven years ago, IRP senior investigator Hormuzd Katki, Ph.D., had a bit of an eureka moment during a press event announcing the results of the National Lung Cancer Screening Trial, which demonstrated that annual screenings cut the risks of dying from lung cancer in heavy smokers by 20 percent.

“It struck me as I read the trial results that not only was this a very important trial, but that it was possible that different people will have different benefits from lung cancer screening,” Dr. Katki remembers. “Even within this group of very high-risk smokers who were part of the trial, you can identify some people who get much more benefit than other people, and that has implications for who should be offered this kind of screening.”