women in science

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.

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.

A Lifetime Exploring the Kingdom of Fungi

IRP’s June Kwon-Chung Elected to National Academy of Sciences for Advances in Mycology

Dr. June Kwon-Chung

Even as a little girl, NIH Distinguished Investigator June Kwon-Chung, Ph.D., knew she would be a scientist. Seven decades later, she has been elected to the National Academy of Sciences (NAS) for her groundbreaking research on fungal diseases.

“My dream has always been to become a research scientist in the field of biology,” Dr. Kwon-Chung says. “This goes way back to when I was barely out of the toddler stage.” 

As a child growing up in Korea before it split into two separate countries, Dr. Kwon-Chung felt blessed to have parents and teachers who nurtured her interests early. Her participation in her junior high school’s “Biology Club” led her to focus on the study of bacteria as a student at the Ewha Womans University in Seoul, Korea, even though wartime disruptions made scientific study challenging. In 1961, she won a year-long Fulbright Smith-Mundt scholarship to study in the U.S. and chose to attend the University of Wisconsin, where she specialized in mycology, the study of fungi.

Jekyll-and-Hyde Gene Has Dual Influences on Dementia Risk

IRP’s Priyanka Narayan Explores How the ApoE Gene Affects Fat Management in the Brain

two DNA molecules overlaid on top of a brain

Just as Dr. Jekyll and Mr. Hyde exhibited the extremes of good and bad qualities in a single man, IRP Stadtman Investigator Priyanka Narayan, Ph.D., is showing how a single gene can both protect against and raise the risk for Alzheimer’s disease and other dementias. As we observe Alzheimer’s and Brain Awareness month this June, we talked with Dr. Narayan about her work.

“Our research focuses on understanding fundamental cell biology in brain cells and how genetic factors affecting that biology can predispose individuals to Alzheimer's disease,” Dr. Narayan says. “More recently, we’ve become interested in protective factors that make people more resistant to getting Alzheimer’s disease and other forms of neurodegenerative diseases as well.”

Symposium Spotlights Promising Female Scientists

Annual Event Recognizes Three Young Researchers’ Scientific Accomplishments

Dr. Jennifer Zink

For decades, NIH has been working to solve the problems that have long stymied the careers of many young women interested in becoming scientists. As that essential effort continues, it’s important to shine a spotlight on some of the talented female researchers who are contributing to our knowledge of human health and biology right now.

One way the IRP does that is through the annual NIH Women Scientists Advisors (WSA) Scholar Award Symposium, which each year gives three early-career female scientists working in NIH labs the opportunity to present their work to the entire IRP community. At this year’s symposium, which took place April 29, the most recent group to be named WSA Scholars by NIH’s Women Scientists Advisors committee discussed their efforts to probe pollution’s impact on health, improve immunotherapy for cancer, and examine how screen time affects kids. Read on to learn more about their award-winning research.

The Heartache of Discrimination

Allana T. Forde Unpacks Racial Disparities in Heart Health

black man having chest pains

Discrimination comes in many forms, and people experience it and cope with it in different ways. The accumulation of stress arising from discrimination can lead to wear and tear on the body in a process called ‘weathering’, which ultimately harms cardiovascular health. This is one of the key reasons Black Americans have a higher rate of cardiovascular disease than all other racial and ethnic groups in the U.S. and are much more likely to die from cardiovascular conditions than other racial and ethnic groups.

NIH Stadtman Investigator Allana T. Forde, Ph.D., M.P.H., hopes to reduce these startling health disparities by examining how psychosocial stressors, including discrimination, affect the cardiovascular health of subgroups of the Black population, including Afro-Caribbean, Afro-Latino, and African American individuals. She also endeavors to identify the protective and adaptive factors that impact the relationship between discrimination and cardiovascular health. In honor of American Heart Month, I spoke with Dr. Forde about her research on discrimination and cardiovascular health in Black Americans, as well as how her research might improve cardiovascular health and inform cardiovascular disease prevention strategies.

NIH Mourns the Passing of Dilys Parry

Dr. Dilys Parry

Dr. Dilys Parry died peacefully in her sleep in the early morning of February 2, 2024, after a long illness. For 30 years, Dr. Parry was a staff clinician and principal investigator in the Division of Cancer Epidemiology and Genetics (DCEG) at NIH's National Cancer Institute (NCI). Following her retirement from federal service in 2007 she continued to engage with her colleagues on projects as a special volunteer. 

Dr. Parry’s medical genetics research focused primarily on genetic and clinical studies of neurofibromatosis 2 (NF2) and chordoma, a rare bone tumor derived from the notochord, and adult brain tumors. She was deeply committed to educating patients about the natural history of these diseases and helping them and at-risk relatives receive genetic testing or other types of screening to aid in early detection and treatment. Her research helped to identify susceptibility genes for and delineate the spectrum of clinical manifestations associated with NF2 and chordoma. She also elucidated correlations between the specific types of variants in the gene NF2 and clinical findings. Much of the momentum that exists in chordoma research traces back to Dr. Parry’s early interest in the disease.

Brain Pathway Amplifies Pain After Injury

Mouse Study Could Aid Development of Treatments for Chronic Pain

patient with shoulder injury talks with doctor

Getting hurt or sick is bad enough, but millions of patients around the world continue to experience pain or hypersensitivity even after their ailment resolves itself. Despite the prevalence of chronic pain, few effective treatments are available, especially ones without the potential for addiction that opioid medications carry. However, new IRP research has shown that suppressing the electrical firing of neurons in a certain brain area can alleviate injury-induced hypersensitivity in mice, providing a promising new target for treatments aimed at relieving chronic pain.

Delivering on Maternal Health

IRP’s Katherine Grantz Develops Tools to Predict Pregnancy Complications

pregnant woman in hospital

Advancements in medicine have reduced the risk of childbearing dramatically, but rates of maternal death have been creeping up in recent years. The reasons are varied. Older first-time parents, greater health concerns like obesity and hypertension, and lack of access to maternity care are important factors.

In observance of Maternal Health Awareness Day on January 23, we spoke with Katherine Grantz, M.D., a maternal-fetal medicine specialist and senior investigator at the Eunice Kennedy Shriver National Institute on Child Health and Human Development (NICHD). She is trying to improve health for pregnant people and their babies experiencing complications like gestational diabetes and hypertension, as well as reduce preterm deliveries and unnecessary C-sections.