epigenetics

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.

IRP’s Lindsey Criswell Elected to National Academy of Medicine

Researcher Seeks Risk Factors for Autoimmune Disease

Dr. Lindsey Criswell

During the winter months, we all rely on our immune systems to keep us from catching a cold or the flu, or help us recover quickly if we do fall ill. However, sometimes the immune system itself is the source of our problems, producing one of dozens of ‘autoimmune’ conditions, some affecting specific organs and others affecting the entire body, with symptoms that range from irritating and uncomfortable to deadly. Even more alarming, while these ailments already affect as many as 50 million Americans, their prevalence is rising for reasons that remain unclear.

Lindsey A. Criswell, M.D., M.P.H., D.Sc., has spent her career investigating this mystery and tracking down the culprits behind autoimmune ailments, likely a complex network of genes and harmful environmental influences. Dr. Criswell, who is Director of NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and an adjunct investigator in the National Human Genome Research Institute (NHGRI), was elected to the National Academy of Medicine in 2024 for her accomplishments in this area of research. Her work has identified dozens of genes involved in autoimmune diseases, as well as critical environmental factors that influence their risk and severity.

Symposium Celebrates Award-Winning Female Scientists

Three Young Women Honored at Annual Event

Dr. Brittany Lord

There’s no doubt that science flourishes when it welcomes individuals with different backgrounds and perspectives. In pursuit of that goal, NIH has put considerable effort into closing the gender gap in the biomedical sciences, a field in which men significantly outnumber women, especially as the heads of labs and in leadership positions. Those efforts have so far yielded promising progress, with the proportion of women in IRP senior investigator positions increasing from 22 percent at the end of fiscal year 2016 to 27 percent at the end of fiscal year 2022. Over that same time period, women went from comprising 38 percent of IRP tenure-track investigators to 44 percent.

Part of what makes the IRP a welcoming place for female scientists is the NIH Women Scientists Advisors (WSA), a group of IRP scientists elected to represent the interests of women in the IRP. Once per year, the WSA selects a few female postdoctoral fellows or graduate students conducting research at NIH as WSA Scholars. At a symposium on April 13 honoring the achievements of this year’s Scholars, the awardees presented their efforts to learn more about a devastating childhood neurological condition, decrease health disparities in breast cancer, and use stem cells to investigate the roots of a nerve-destroying disorder. Read on to learn more about this year’s WSA Scholars and the important work they’re doing in their IRP labs.

NIH Mourns Two Accomplished Cancer Researchers

A Tribute to Drs. James M. Phang and John J. DiGiovanna

Dr. John J. DiGiovanna (left) and Dr. James M. Phang (right)

The IRP is deeply saddened by the recent passing of two members of its community, James "Jim" M. Phang, M.D., and John J. DiGiovanna, M.D. Dr. Phang passed away on January 29 after a months-long struggle with esophageal cancer. Dr. DiGiovanna died on February 6, more than two years after his diagnosis of metastatic pancreatic cancer.

Older Cells Make for Riskier Transplants

Examining Molecular Markers of Aging Could Improve Patient Outcomes

old clock

In 2003, 92-year-old Fauja Singh ran the Toronto Waterfront Marathon in slightly under six hours, a feat that many people decades younger could not accomplish. Such examples reveal the problems with making assumptions about a person’s health based solely on age. Similarly, new IRP research suggests that assessing cellular characteristics associated with aging, rather than a person’s chronologic age in years, could improve outcomes for the more than 20,000 patients who receive bone marrow or blood stem cell transplants each year.

Global Scientists Come Together at the National Institutes of Health

Individuals From Around the World Drive IRP Breakthroughs

Dr. Flossie Wong-Staal

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.

Mothers’ Smoking Leaves Unique Marks on Infants’ DNA

Smoking While Pregnant Affects a Woman’s Genes Differently From Her Baby’s

baby holding an adult's finger

Decades of public health campaigns have made the health consequences of smoking common knowledge. However, for the few women who smoke while pregnant, the habit can affect not only their own bodies but also those of their unborn children. Intriguingly, according to a new study led by IRP researchers, so-called ‘epigenetic’ changes to DNA that can alter the behavior of genes differ significantly in smoking mothers compared to their babies, suggesting that maternal smoking may have unique, long-lasting effects on the way a child’s body functions.

Newest Lasker Scholars Ready to Make Their Mark

Exceptional Early-Stage Investigators Push the Boundaries of Translational Research

the 2019 class of NIH Lasker Scholars

Online and print publications are constantly touting momentous discoveries by superstar scientists like CRISPR-Cas9 co-discover Jennifer Doudna or the IRP’s own Kevin Hall, who changed the way we think about weight loss. It can be easy to forget that today’s biomedical pioneers were once young researchers toiling to establish themselves in the competitive environment of modern science.

Each year, a small, exceptionally promising group of scientific up-and-comers become Lasker Clinical Research Scholars through a highly competitive program jointly funded by the NIH and the Albert and Mary Lasker Foundation. The program presents early-stage physician-scientists with the opportunity to carry out independent clinical research at the NIH for five to ten years. The 2019 class of Lasker Scholars consists of five extremely talented researchers who are now beginning a critical new phase in their careers. Let’s meet them.

IRP Breast Cancer Researchers Answer “Redditor” Questions

Reddit “Ask Me Anything” Commemorates Breast Cancer Awareness Month

Dr. Stanley Lipkowitz (left) and Dr. Alexandra Zimmer (right)

Breast cancer touches the lives of millions of Americans every year. In 2019 alone, researchers expect more than 300,000 American women to be diagnosed with breast cancer, along with more than 2,600 men. Roughly one out of every eight American women will develop invasive breast cancer at some point in her lifetime, making it the second most commonly diagnosed cancer in American women.

On October 9, in recognition of National Breast Cancer Awareness Month, the NIH Intramural Research Program (IRP) partnered with the National Cancer Institute (NCI) to host a Reddit “Ask Me Anything” (AMA) with two prominent researchers in the NCI's Women's Malignancies Branch: Stanley Lipkowitz, M.D., Ph.D., and Alexandra Zimmer, M.D. Between Dr. Lipkowitz’s extensive knowledge of the cellular and molecular pathways involved in breast cancer and Dr. Zimmer’s expertise in the development of clinical trials for breast cancer treatments, the pair were able to offer intriguing insights on topics ranging from recent advances in breast cancer treatment to genetic and environmental factors that influence risk for the disease. Read on for some of the most interesting exchanges that took place, or check out the full AMA on Reddit.

Genome Modifications Affect Protein Variation in Tumors

Examining DNA Methylation Could Facilitate Targeted Cancer Therapy

DNA double helices

As an amateur home chef, I know from experience that the ingredients you use can dramatically alter the way a recipe turns out. Leave out oregano and your tomato sauce will be bland; add too much red pepper and your plate of pasta will scorch your tongue.

In this way, it turns out, cooking is a lot like the process by which your genes manufacture the proteins that keep your body running. Just like the same recipe can result in a delicious or disappointing meal depending on how you modify it, a certain gene can produce several varieties of a single protein that behave in different ways. In some cases, these alterations may lead to disease. New IRP research has revealed that a genetic regulatory process called DNA methylation can contribute to cancer by changing which forms of a protein a gene produces.1