IRP Discoveries

How a Marker for Genetic Damage Changed the Study of DNA

Decades Later, IRP Researcher’s Discovery Is Used in Labs Around the World

Dr. William Bonner

National DNA Day, held on April 25, commemorates the completion of the Human Genome Project in 2003 and the day in 1953 when a research team led by Drs. James Watson, Francis Crick, Maurice Wilkins, and Rosalind Franklin published their groundbreaking paper on the structure of DNA in the journal Nature.

The mapping of DNA’s structure opened the door to modern genetics and our current understanding of how DNA affects the health and survival of all living things. Since then, there have been numerous additional major leaps forward in the field of genetics. Among them was the discovery of a universal hallmark of DNA damage by IRP Scientist Emeritus William Bonner, Ph.D., an advance that revolutionized the study of how cells sense and repair genetic defects. Dr. Bonner’s findings paved the way for a deeper understanding of cell biology, as well as clinical advances for treating cancer and for assessing risks from radiation in the environment.

RNA-Targeting Therapeutic Restores Protein Absent in Spinal Muscular Atrophy

New Approach Could Enhance Existing Treatments for Debilitating Genetic Disease

complimentary RNA and DNA nucleotides

The prospect of editing our DNA to treat genetic diseases may have captured the imaginations of scientists and the public in recent years, but that doesn’t mean there aren’t other ways of combating these illnesses. Many promising therapies act not on DNA itself but rather on DNA’s often overlooked cousin, RNA. For instance, experiments in cells performed by IRP researchers have shown promising results or a RNA-targeting therapeutic developed to treat the debilitating genetic disease spinal muscular atrophy.

Reducing Stress Boosts Efficiency of Bacterial Factories

Unconventional Genetic Strategy Could Enhance Production of Medical Treatments

E. coli bacteria

We all have bad days on the job — your colleague keeps bugging you, your boss yelled at you for an innocent mistake, and you skipped lunch because you have 10 different deadlines coming up. Understandably, many people find it much harder to get their work done under such stressful circumstances. Microbes that produce chemicals for medicine and scientific research experience similar struggles, but a recent IRP study has found that short-circuiting their stress response makes them far more efficient at that task.

NIH Scientists Redesign Neurons to Enable Targeted Therapies

New Receptors and Radioactively Labeled Molecules Could Provide Useful Tools for Research and Medicine

neurons firing

Genetically modifying neurons to enable scientists and clinicians to influence brain activity probably sounds like the stuff of science fiction. However, the technology has existed for more than a decade, allowing scientists to make important leaps in understanding how neurons communicate with one another in healthy individuals and those with psychological and neurological conditions. What’s more, recent improvements to these tools developed by researchers led by IRP investigator Mike Michaelides, Ph.D., may allow neurologists to use them to deliver drugs to just the right brain cells to treat those ailments effectively without the side effects caused by current treatments.

Designer Drug Uses Double Whammy to Fight Heart Disease

Custom-Built Molecule May Improve On Its Natural Counterpart

plaque buildup in an artery

Ten years ago, a young woman from Chicago came to the National Institutes of Health with a rare genetic condition. A mutation in her DNA was making her metabolic system malfunction, causing levels of fat molecules called triglycerides in her blood to skyrocket far out of the normal range. This triggered inflammation in her pancreas, a painful and potentially life-threatening condition known as pancreatitis. She couldn’t understand why there wasn’t any kind of treatment to help her.

IRP senior investigator Alan T. Remaley, M.D., Ph.D., took on the challenge with the help of Anna Wolska, Ph.D., a research fellow in his lab. Dr. Remaley leads the Lipoprotein Metabolism Section in the National Heart, Lung, and Blood Institute (NHLBI), where he and Dr. Wolska study lipoproteins, small particles that transport fats such as cholesterol and triglycerides through the bloodstream to be broken down and used by cells for energy. Their efforts to help that young woman ultimately led to the discovery — published last January — of a new strategy for reducing triglycerides in order to treat serious ailments like pancreatitis and heart disease.

Alzheimer’s Patients Show Traces of Cellular Batteries in Blood

Biomarker Discovery Could Aid Diagnosis and Therapeutic Development

extracellular vesicles containing genetic material

Our cells can’t afford to be wasteful, so they prefer to recycle broken components. However, when the mitochondria that provide their energy are damaged beyond repair, cells may have no choice but to throw them out. New IRP research suggests that more of this mitochondrial debris floats in the blood of patients with Alzheimer’s disease, potentially providing an easy, cost-effective way to diagnose or even possibly predict the illness.

An Ebola Therapy Two Decades in the Making

IRP Researcher Nancy Sullivan Led Development of Cutting-Edge Treatment

a volunteer receives an infusion of an experimental Ebola therapy during a phase I clinical trial

Twenty-four years before the novel coronavirus began spreading in Wuhan, China, an outbreak of another deadly virus burned through the city of Kikwit in what is now the Democratic Republic of Congo. Between January and August of 1995, 316 people are thought to have contracted Ebola, and 252 of them died. More than a decade later, a team of NIH infectious disease scientists would track down one of the survivors and use a sample of the individual’s blood to produce one of the first effective treatments for Ebola.

Rare Genetic Variants Underlie Susceptibility to Reproductive Disruption

IRP Study Could Help Identify Women at Greater Risk for Fertility Problems

pregnancy test

As the calendar page turned from 2020 to 2021, many people adopted major lifestyle changes like healthier eating or significantly increasing their physical activity. While these New Year’s resolutions will likely improve their overall health, they could also wreak havoc on the reproductive cycles of a small set of women. New IRP research sheds light on the genetic factors that make some women susceptible to diet- or exercise-induced disruptions to their reproductive systems.

AI Tools Provide Picture of Cervical Health

Artificial Intelligence Simplifies Cervical Cancer Screening

human silhouette containing computer circuits

Even though cervical cancer is considered one of the most preventable forms of cancer, it remains a serious and deadly scourge for many across the world. A computer algorithm designed to quickly and easily identify pre-cancerous changes using a regular smartphone may change that.

“The point of everything that we do and have done in the last 40 years is to understand something deeply so that we can invent simple tools to use,” says IRP senior investigator, Mark Schiffman, M.D., M.P.H. To that end, he and collaborators in the National Cancer Institute (NCI) and the National Library of Medicine (NLM), in collaboration with the Global Health Labs and Unitaid, developed and are now testing a machine learning-based approach to screening for cervical cancer, with promising results.

Brief Mindfulness Program Reduces Healthcare Workers’ Stress

IRP Study Examines Less Time-Intensive Method for Improving Mental Health

people meditating

While working in healthcare can be extremely rewarding, it is also undoubtedly stressful. In particular, the COVID-19 pandemic has had severe repercussions on the mental health of medical professionals, as doctors and nurses struggle to care for unprecedented numbers of sick patients. Fortunately, new NIH research suggests that a relatively brief workplace mindfulness program can reduce stress and anxiety in healthcare workers.