genes

Get a Glimpse of NIH’s Graduate Student Science

Aspiring Scientists Show off Research Findings at Annual Event

IRP graduate student Angel Delgado

The NIH IRP provides not only a world-class environment for skilled scientists to make groundbreaking discoveries, but also an exhilarating training ground for the next generation of researchers. Among the many budding scientists working on NIH’s campuses are graduate students conducting part of their dissertation research in IRP labs. 

Of course, these ambitious trainees aren’t waiting until they receive their degrees to contribute to scientific breakthroughs. At this year’s Graduate Student Research Symposium, more than 100 of them presented research on topics ranging from the skin condition psoriasis to the role of immune cells in Alzheimer’s disease. Read on to learn more about some of the ways current IRP graduate students have expanded our understanding of the human body.

Leveraging AI To Combat Cervical Cancer

IRP Researcher Identifies Precise Disease Biomarkers

doctor holding an electronic tablet

Over the last few decades, advances in cervical cancer screening and prevention have fundamentally changed the approach to dealing with one of the most common forms of cancer in younger women. While doctors have been able to detect cancerous and pre-cancerous cells with a Pap smear since the 1940s, the more recent discovery that the human papillomavirus (HPV) causes more than 90 percent of cervical cancers now affords greater accuracy to regular screening tests. What’s more, IRP researchers truly changed the game by developing a vaccine against HPV, which was approved by the U.S. Food and Drug Administration (FDA) in 2006. 

Still, despite these extremely positive developments, much work remains to be done, as cervical cancer continues to kill about 4,000 American women each year. In honor of World Cervical Cancer Awareness Month this January, we spoke with IRP Senior Investigator Nicolas Wentzensen, M.D., Ph.D., about his efforts to bring that number as close to zero as possible.

Rooting Out Genetic Risks for Gum Disease

IRP’s Oral Health Experts Explore Why It’s Not Always About Brushing and Flossing

illustration of inflammation in the gums

When you dig into that bowl of candy this Halloween, you may want to keep in mind that those sweets are not only fueling your sweet tooth, but also an army of creepy crawlies living in your mouth, busily forming a sticky film of plaque and attacking your gums.

As Dental Hygiene Month comes to a close this October, we spoke with IRP Clinical Research Specialist Laurie Brenchley, R.D.H., a dental hygienist and clinical study coordinator in the laboratory of IRP senior investigator Niki Moutsopoulos, D.D.S., Ph.D. Together, Brenchley and Dr. Moutsopoulos are studying the link between oral health and the immune system, with a specific focus on cases in which genetic factors increase susceptibility to severe gum disease, more formally known as periodontitis.

Dysfunction in Janitorial Gene Contributes to ALS

IRP Study Points to Treatment Target for Fatal Neurological Disorder

person taking out the trash

Just like we throw out our busted toasters and other appliances, our cells must continuously dispose of malfunctioning equipment to keep themselves working optimally. In certain neurological diseases, though, neurons die because they can’t get rid of misbehaving molecules. New IRP research provides crucial insights into a key player in this process, suggesting that restoring the function of a particular gene or boosting the levels of the enzyme it produces could help patients with the devastating disease known as amyotrophic lateral sclerosis (ALS).

IRP’s Marston Linehan Receives HHS Secretary’s Award for Distinguished Service

Honor Recognizes Groundbreaking Advances in Cancer Genetics

Dr. Marston Linehan

As an undergraduate majoring in English, IRP senior investigator W. Marston Linehan, M.D., was fascinated by the complex poetry of 18th-century writer William Blake. But as much as he loved puzzling out the deeper meanings behind literary metaphors and imagery, Dr. Linehan eventually realized he wanted to do work that had more tangible benefits for people. Biology, with its own deep and complex mysteries, fit the bill.

Nearly 40 years later, Dr. Linehan’s pioneering work in the study of genetic forms of kidney cancer has transformed how doctors treat the disease. Over that period, he and his colleagues discovered or co-discovered nine distinct forms of kidney cancer and identified 10 different genes that cause them. These discoveries have provided the basis for targeted therapies and new approaches to treatment and, this year, earned Dr. Linehan the HHS Secretary’s Award for Distinguished Service, the highest honor given by the US government’s Department of Health and Human Services (HHS).

NIH Book Talk Highlights IRP Cancer Research

"A Fatal Inheritance" Author Larry Ingrassia Discusses His New Book

Lawrence Ingrassia at the NIH event

In June 2024, Mr. Lawrence Ingrassia visited NIH to give a talk about his book, A Fatal Inheritance: How a Family Misfortune Revealed a Medical Mystery, which evolved from interviews with current and former IRP researchers, including IRP scientist emeritus Joseph F. Fraumeni, Jr., M.D.

Li-Fraumeni Syndrome (LFS) is an inherited disorder caused by deleterious variants in the TP53 tumor-suppressor gene that lead to very elevated risk of cancers, including sarcomas, brain, breast, and many others. Investigators at NIH have followed families with LFS since the syndrome was first described in 1969 by Dr. Fraumeni and his late collaborator, Dr. Frederick P. Li. Drs. Li and Fraumeni’s seminal discovery was the foundation on which studies of genetic susceptibility to cancer were built.

From Fruit Fly Genes to Sweet Dreams

IRP’s Susan Harbison Unravels the Genetics of Sleep Disorders

swarm of fruit flies on an apple

Comedian George Carlin used to call sleep “a bizarre activity.” In his act, he observed, “For the next several hours, while the sun is gone, I’m going to become unconscious, temporarily losing command over everything I know and understand. When the sun comes up, I’ll resume my life.”

Every year on March 15, the celebration of World Sleep Day reminds us that sleep remains a baffling biological mystery. What happens when we sleep, why we need it, and why it varies so much between individuals are still unclear despite the best efforts of many scientists. That enduring enigma is what has driven IRP senior investigator Susan Harbison, Ph.D., to investigate the biological basis and genetics of sleep.

IRP Scientists Win Breakthrough Prize for Parkinson’s Discoveries

Andrew Singleton and Ellen Sidransky Lauded for Genetics Research

Dr. Ellen Sidransky (left) and Dr. Andrew Singleton (right)

Throughout history, some of the most important insights about devastating illnesses have come from identifying genes that contribute to them. Parkinson’s disease, a neurological condition that robs patients of the ability to move, is just one example of this pattern — and one that IRP researchers have made critical advances on in recent years.

Reflecting the IRP’s groundbreaking research on Parkinson’s disease, in September, IRP senior investigators Ellen Sidransky, M.D., and Andrew Singleton, Ph.D., were awarded the prestigious Breakthrough Prize for their research on the genetic causes of the illness. The world’s largest scientific award, the Breakthrough Prize honors “transformative advances toward understanding living systems and extending human life.” Each year, one award in the Life Sciences category is reserved for research on Parkinson’s and other neurodegenerative disorders. Dr. Sidransky and Dr. Singleton, along with a third Parkinson’s researcher, Thomas Gasser, M.D., Ph.D., at the University of Tübingen in Germany, will share the $3 million prize.

Examining Genetic Influences on Lung Cancer

IRP Research Investigates Disease’s Roots Beyond Smoking

magnifying glass examining DNA in the lungs

Today is World Lung Cancer Day, bringing increased awareness to a disease most commonly associated with smoking tobacco products. Yet even though cigarette smoking rates have decreased over the past few decades, this deadly disease remains responsible for more deaths than any other type of cancer — more than 125,000 per year in the U.S. alone. In fact, between 10 and 25 percent of lung cancers occur in people who never smoked.

IRP Stadtman Investigator Jiyeon Choi, Ph.D., has always been curious about how our DNA influences the traits we have and our risk for diseases. When it comes to genes’ contribution to cancer risk, the stakes are particularly high, but Dr. Choi noticed a gap in research when it came to understanding the role genetic variation plays in lung cancer risk. She and her research team aim to fill this gap using a battery of high-tech genomic studies to root out the genes and molecular processes that make some people more susceptible to the disease.

Postbac Poster Day Returns to NIH Campus

Budding Scientists Assemble for First Time Since 2019

IRP postbac fellow Vernon Kennedy with his poster at Postbac Poster Day

In many ways, working at NIH feels like being at a world-renowned university, complete with a variety of classes, intellectually stimulating lectures, social events, and opportunities for professional development. It’s no wonder, then, that NIH has long been a destination for young people who have just departed from their alma maters with their newly earned undergraduate degrees.

These new graduates come to the IRP to hone their scientific skills in NIH’s Postbac IRTA program, conducting research in IRP labs for one or two years under the expert guidance of the IRP’s seasoned investigators. The program also provides the opportunity once per year for participants to present the fruits of their efforts to all their IRP colleagues at Postbac Poster Day, and this year’s event on April 19 and 20 was the first to include an in-person component since 2019. Read on to learn about a few of the nearly 1,000 postbacs who showed off their research at this year’s event, which spanned fields from neuroscience and cancer to genetics and virtual reality.