genes

Award Honors Promising Female Scientists

Women Scientists Advisors Select Three Young Researchers for Recognition

Dr. Sally Chang

While women have now overtaken men in terms of admission and enrollment in undergraduate education, they remain underrepresented in the sciences. This includes at NIH, where 74 percent of senior investigators and 54 percent of tenure-track investigators are male, according to the most recent statistics available. Consequently, NIH is putting considerable effort into supporting women scientists at all stages of their careers.

One NIH entity dedicated to this important work is the NIH Women Scientists Advisors (WSA), a group of women elected to represent the interests of women scientists in the IRP. Among its many initiatives, each year the WSA chooses several female postdoctoral fellows or graduate students in the IRP to receive the WSA Scholar Award in recognition of their outstanding scientific achievements. The awardees present their research at the annual WSA Scholars Symposium, which this year was held on April 25 and recognized young women leading efforts to better understand how disease-related genes evolved, an investigation of how a fatty liver can give rise to liver cancer, and the evaluation of a way to deliver gene therapy for a rare genetic disease. Read on to learn more about this year’s WSA Scholars and the impressive discoveries they have made during their time in the IRP.

Overturning the Orthodoxy About the Brain’s Stress Chemical

IRP Researchers Discover Unexpected Stress-Blunting Effects of Some Neurons

man showing signs of stress

The past few years have not been easy for anyone. With world events like the COVID-19 pandemic and the war in Ukraine causing everyone to worry, it’s no surprise that during this April’s annual Stress Awareness Month observance, so many people experienced high levels of stress and anxiety. While stress management techniques and talk therapy may help some people, nearly 10 million Americans need prescription anti-anxiety drugs to quell those feelings.

One important target for anti-anxiety medications is norepinephrine, a chemical released by certain neurons in the brain. Norepinephrine — also known as noradrenaline — has traditionally been considered to be a ‘stress chemical’ that triggers anxiety. However, drugs designed to target the neurons that produce it don’t always work as predicted. That’s why IRP senior investigator Patricia Jensen, Ph.D., and her colleagues in the Developmental Neurobiology Group at the National Institute of Environmental Health Sciences (NIEHS) are delving deep into the mouse brain to better understand these neurons and what exactly they do.

Postdoc Profile: A Bird’s-Eye View of Retinal Disease

Dr. Noor White Traces Evolution to Identify Genes Critical for Vision

Dr. Noor White

The eye has existed in some form for roughly 600 million years. Its many intricate components and the general ability of organisms to sense light have continued to adapt and evolve over huge spans of time into what we know as vision today. By mapping out the evolution of vision, Noor White, Ph.D., hopes to shed light on the genetic causes of diseases that affect the retina, the part of the eye that turns light into electrical signals the brain can use to build an image of our surroundings.

“If we can take a step back and look at the bigger picture, then we can identify the critical genetic components of vision,” explains Dr. White, who was an IRP postdoctoral fellow for four years before becoming a Staff Scientist in March.

Genetic Sequencing Solves Drug Reaction Mystery

Immune System Genes Linked to Severe Side Effects in Patients with Rare Disease

computer monitor showing the results of DNA sequencing

When you run the largest-ever study of a rare childhood disease, you become the go-to person when your peers notice something peculiar in patients with the illness. It was not too surprising, then, when a researcher from Stanford University in Palo Alto, California, asked IRP investigator Michael Ombrello, M.D., to help her team follow a new lead in the mystery of why some patients with a rare inflammatory condition called Still’s disease were coming down with a life-threatening lung ailment. The results of their collaboration could lead to a new precision medicine approach that individualizes therapy for Still’s disease based on patients’ DNA.

Dog Genome Yields Clues to Human Cancer

IRP Research Identifies Genetic Risk Factors for Highly Lethal Disease

flat-coated retriever

We may share our food and even our beds with them, but despite what many dog lovers might like to believe, our canine companions are not humans who just happen to walk on four legs. One thing we do have in common, though, is the array of genetic diseases that afflict both man and man’s best friend. As a result, scientists can learn a great deal about human illnesses by studying dogs. Using this approach, IRP researchers recently discovered genetic variants that likely play an important role in a rare and poorly understood form of cancer.

IRP’s Charles Rotimi Elected to American Academy of Arts and Sciences

Pioneering Genetic Epidemiologist Takes a Global Approach to Fighting Health Disparities

Dr. Charles Rotimi

IRP distinguished investigator Charles Rotimi, Ph.D., was elected to the American Academy of Arts and Sciences this year in recognition of his pioneering work exploring the health implications of genetic diversity in populations with African ancestry, as well as for globalizing the study of genomics, particularly in African nations. Dr. Rotimi joined NIH in 2008 as the founding director of the Intramural Center for Genomics and Health Disparities in the National Human Genome Research Institute (NHGRI), which was later renamed the Center for Research on Genomics and Global Health, in part to reflect Dr. Rotimi’s globe-spanning research programs.

Postbac Poster Day Showcases Young Scientific Talent

Scientists-in-Training Impress at Virtual Event

Malcolm Udeozor

Despite the challenges of working during a global pandemic, IRP scientists continue to make groundbreaking discoveries and mentor the next generation of researchers. This includes the hundreds of recent college graduates conducting research in NIH labs through the Postbaccalaureate IRTA program. On April 28, 29, and 30, many of these budding scientists presented the fruits of their efforts at this year’s virtual Postbac Poster Day. Read on to learn about a small sampling of the scientific strides NIH’s postbacs are making.

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.