autoimmune

Unlocking the Genetic Mysteries of Rare Autoinflammatory Diseases

IRP Researcher Finds Explanations and Hope

child getting her cheek swabbed for DNA analysis

Rare Disease Day, celebrated on or near February 29 — the rarest day on the calendar — calls attention to the 300 million people in the world who have some sort of rare disease. For children born with one of those diseases, speedy diagnosis and treatment may be necessary to ward off long-term complications, but that’s much easier said than done. This is especially true for pediatric autoinflammatory diseases, in which the immune system attacks the child’s own body. IRP senior investigator Raphaela T. Goldbach-Mansky, M.D., M.H.S., has made it her mission to discover and define these diseases and the genes that cause them, and then find a way to provide treatment. 

A Step Towards Precision Medicine for Lupus

IRP Research Hints at Potential of Genomic Technologies to Predict Patient Outcomes

blood vial and diagram showing DNA methylation markers on DNA molecules

Our genes certainly have a huge influence over our risk for disease, but they don’t operate in a vacuum. Rather, they’re decorated with numerous molecular tags like a bejeweled bracelet, and these ‘epigenetic’ markers affect how genes behave. A recent IRP study revealed differences in certain epigenetic markers that may one day help doctors more effectively treat patients with the autoimmune disease known as lupus.

IRP’s Lindsey Criswell Elected to National Academy of Medicine

Researcher Seeks Risk Factors for Autoimmune Disease

Dr. Lindsey Criswell

During the winter months, we all rely on our immune systems to keep us from catching a cold or the flu, or help us recover quickly if we do fall ill. However, sometimes the immune system itself is the source of our problems, producing one of dozens of ‘autoimmune’ conditions, some affecting specific organs and others affecting the entire body, with symptoms that range from irritating and uncomfortable to deadly. Even more alarming, while these ailments already affect as many as 50 million Americans, their prevalence is rising for reasons that remain unclear.

Lindsey A. Criswell, M.D., M.P.H., D.Sc., has spent her career investigating this mystery and tracking down the culprits behind autoimmune ailments, likely a complex network of genes and harmful environmental influences. Dr. Criswell, who is Director of NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and an adjunct investigator in the National Human Genome Research Institute (NHGRI), was elected to the National Academy of Medicine in 2024 for her accomplishments in this area of research. Her work has identified dozens of genes involved in autoimmune diseases, as well as critical environmental factors that influence their risk and severity.

From Friend to Foe: When the Immune System Turns on the Brain

IRP Research is Exploring the Role of Immune Cells in Dementia

illustration of fire trucks rushing to put out a fire in the brain

If you visit a lab at NIH’s Center for Alzheimer’s and Related Dementias (CARD), you may find yourself surrounded by several robots hard at work nurturing the hundreds of sets of genetically modified stem cells that CARD scientists use to study the illnesses that give CARD its name. Many of these cells will be coaxed to mature into the neurons that power our movements, thoughts, and memories — but not all of them. Neurons have long received the lion share of dementia researchers’ attention, understandable seeing as the visible symptoms of Alzheimer’s disease are closely linked to a build-up of proteins — amyloid-beta and misfolded tau — that damage neurons. However, neurons aren’t the only brain cells involved in dementia.

Camel-Derived Therapy Infiltrates Cells to Treat Multiple Sclerosis

IRP Mouse Study Shows Promise of Treatment Strategy

camel in the desert

Earth’s jungles, deserts, and oceans are chock-full of wonderous creatures that have inspired a wide array of cutting-edge technologies, from strong yet flexible clothes made of synthetic spider silk to the plant-derived aspirin and morphine that have long been used as painkillers. Over the past few years, scientists at NIH and elsewhere have added sharks and camels to that list due to unique molecules their immune systems make. IRP researchers recently showed that one of those molecules could potentially be used to treat the devastating neurological disease known as multiple sclerosis.

A Summer of Science

Summer Poster Days Showcase IRP Summer Intern Research

IRP summer intern Thomas Savage

Every summer, NIH welcomes hundreds of enthusiastic young men and women to its campuses to work as summer interns, providing them with scientific training and mentorship from some of the world’s preeminent researchers. As always, the Summer Internship Program culminated this year with Summer Poster Days, held on August 1 and 2, a bustling event where summer interns showcase the results of their immersion into IRP research. Nearly 800 IRP summer interns participated in this year’s event, presenting research on cancer vaccines, new applications for virtual reality technology, experimental antifungal treatments, how the brain perceives pitch in sounds, and much more. Read on for a glimpse at some of this year’s summer interns and the work they braved a blazing Washington, D.C., summer to pursue.

Bone Marrow Cells Reveal Secret Weapon to Battle Bacteria

Research Could Lead to Cell-Based Therapies for Infections and Autoimmune Reactions

bacterial colonies growing in a petri dish

One thing many scientists love about their job is that the topic they study can still surprise them even after decades of research. IRP senior investigator Eva Mezey, M.D., Ph.D., for instance, has spent the last 20 years investigating a particular set of cells in the bone marrow, yet until now she had never uncovered one of their most intriguing tricks. In a recent study, her IRP team and its collaborators discovered that those cells make a substance that can fight infections and tame hyper-active immune responses.

Sandra Wolin and Ronald Germain Elected to American Academy of Arts and Sciences

IRP Scientists Recognized for RNA Revelations and Immune System Insights

Dr. Ronald Germain (left) and Dr. Sandra Wolin

Since its founding in 1780, the American Academy of Arts & Sciences has honored excellence in fields ranging from the humanities and arts to math, biology, and physics. In 2023, two of IRP’s eminent researchers joined the ranks of such luminaries as Benjamin Franklin and Nobel Prize winner Barbara McClintock as members of the Academy for their work in immunology and RNA science.

IRP’s John O’Shea Elected to National Academy of Sciences

NIH Scientist Spurred Revolution in Autoimmune Disease Therapy

Dr. John O'Shea

IRP senior investigator John O’Shea, M.D., is a man of many talents. During his career at NIH, he has applied his creativity and drive not just to playing a variety of instruments in a rock band made up of NIH scientists, the Affordable Rock ‘n’ Roll Act (ARRA), but also to his groundbreaking research on the immune system.

This May, Dr. O’Shea, who is the Scientific Director at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), was elected to the National Academy of Sciences (NAS) for his influential research on the biochemical chain of events that kicks our immune system into gear, which has led to a better understanding of how genetic mutations interfere with the immune response, as well as the development of an entire new class of drugs that target the immune system.

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.