Approach Could Protect or Even Regenerate Neurons in Eye and Spinal Cord
At the end of Aesop’s fable The Lion and the Mouse, the titular rodent saves his much larger friend from a hunter’s trap. Just like Aesop, scientists know well that even something tiny and often overlooked can lend a helping hand. Extremely short strands of genetic material called microRNAs, for instance, could make for useful therapeutic targets for glaucoma and other degenerative eye ailments, according to new IRP research.
Individuals From Around the World Drive IRP Breakthroughs
Come to NIH and you’ll hear many accents. Scientists from around the world have always contributed significantly to the NIH mission. The resulting diversity of backgrounds and perspectives makes the NIH Intramural Research Program an extremely stimulating and productive environment. Read on to learn about some of the many scientists of the past and present who brought their talents from abroad to one of the world’s leading institutions for biomedical research.
Globe-Spanning Collaboration Connected ‘Viking Gene’ to Dementia and ALS
June was an important month in the life of baseball great Lou Gehrig. It was the month he was born and the month he was first picked for the Yankees’ starting lineup. Sadly, it was also the month in 1939 when he was diagnosed with the neurological disease that bears his name — Lou Gehrig’s disease, also known as amyotrophic lateral sclerosis (ALS) — and the month he died of that disease two years later. It is appropriate then that ALS Awareness Day is observed on June 21 as a day of hope for those searching for effective treatments and, ultimately, a cure.
IRP senior investigator Bryan J. Traynor, M.D., Ph.D., a neurologist at the National Institute on Aging (NIA), is one of the people leading that search. Best known for his work unraveling the genetic causes of ALS and frontotemporal dementia (FTD), he led an international consortium of researchers that uncovered a mutation on chromosome 9 that is the most common ‘familial’ cause of both ALS and FTD. In fact, this mutation, which disrupts the function of the C90RF72 gene, is responsible for 40 percent of all familial cases of ALS and FTD in European and North American populations, meaning cases in which a family member also has the disease. The discovery, published in 2011, revolutionized the scientific understanding of neurodegenerative diseases and the relationships between them. It also suggested a potential target for future gene therapies.
Human and Animal Studies Point to New Treatment Strategy
Interest in the low-carb ‘ketogenetic’ diet has exploded in recent years, with legions of enthusiasts jumping on the bandwagon. The popular dietary regimen has even caught the attention of scientists seeking new treatments for an array of health conditions. For instance, a recent IRP study suggests that a ketogenic diet might make it easier for people with alcohol use disorder to stop drinking.
New Approach Could Enhance Existing Treatments for Debilitating Genetic Disease
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.
Even in the midst of a global pandemic, life at NIH goes on. IRP researchers continue to run experiments, publish scientific papers, and train the next generation of scientists, including the many graduate students performing research in IRP labs through the Graduate Partnership Program. On February 17 and 18, more than 100 of these scientists-in-training presented their work virtually at the NIH’s 17th annual Graduate Student Research Symposium. Like last year’s entirely online Postbac Poster Day, the event overcame the constraints of COVID-19 precautions to showcase a broad range of research, including several studies focused on the novel coronavirus.
Biomarker Discovery Could Aid Diagnosis and Therapeutic Development
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.
NIH Researcher Recognized for Advances in Brain Imaging
The National Academy of Engineering (NAE), established in 1964, comprises more than 2,000 peer-elected members who are among the world’s most accomplished engineers, including senior professionals in business, academia, and government.
IRP senior investigator Peter Basser, Ph.D., was elected to the NAE in February 2020. He directs the Section on Quantitative Imaging and Tissue Science and the Division of Translational Imaging and Genomic Integrity in the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), where he studies how the structure and material properties of living tissues affect their function.
‘Silicon Valley Nobel’ Recognizes Groundbreaking Parkinson’s Disease Research
It can be easy to underestimate the value of so-called ‘basic science’ that doesn’t appear, upon first glance, to have clear therapeutic applications. One of the hidden strengths of this sort of work is its ability to link seemingly disparate areas of scientific inquiry by identifying commonalities between the structure or behavior of different biological molecules. By following these unexpected connections over the course of his career, IRP senior investigator Richard Youle, Ph.D., has made critical discoveries about Parkinson’s disease — research that this year earned him the prestigious Breakthrough Prize in Life Sciences.
Mouse Study Identifies Neurological Obstacle to Dietary Improvements
Every morning, thousands of Americans wake up intending to eat more healthfully, only to find themselves chowing down on a greasy burger at dinnertime. In addition to the many biological and socioeconomic obstacles to healthy eating, a salad can just plain seem unappealing compared to a plate of crispy fries. According to new IRP research, a high-fat diet can dramatically alter how the brain responds to food in ways that make a more wholesome meal less enticing and satisfying.
