gene

Graduate Student Symposium Spotlights Future Scientists

IRP’s Ph.D. and Medical Students Present Research at Virtual Event

Khiem Lam

The IRP isn’t concerned only with discovering the secrets of how our bodies work and developing new therapies to treat disease. Senior scientists and many other employees at NIH also are actively involved in training the next generation of researchers. One place where the benefits of those efforts is strikingly clear is at NIH’s annual Graduate Student Research Symposium, where graduate students performing research in NIH labs show of the fruits of their partnerships with IRP researchers.

On February 16 and 17, more than 100 of the IRP’s graduate students presented their work virtually at the 18th edition of the event. These young scientists discussed the results of studies on a huge range of topics, from how hunger changes during pregnancy to how viruses cause cancer. Read on to learn about a small sampling of the projects they’ve been hard at work on.

Mislabeled Proteins Linked to Birth Defects

IRP Researchers Discover Genetic Disorder Affecting the Brain and Skull

baby

A baby is born with a birth defect every four and a half minutes in the United States, adding up to one in every 33 babies born each year in this country. While some birth defects can be corrected or treated, many result in life-altering disabilities, and sometimes the child doesn’t survive. In fact, birth defects account for about 20 percent of infant deaths in the U.S. World Birth Defects Day, celebrated on March 3 each year, honors the people and organizations who are working to understand, prevent, and treat birth defects.

One of these organizations is the Undiagnosed Diseases Program (UDP) at NIH, which connects experts across the IRP’s 23 Institutes and Centers in a joint effort to find explanations for the “most puzzling medical cases" referred to the NIH Clinical Center.

A New Approach to Male Birth Control

Research in Cells Shows Promise for an Alternative Way to Halt Sperm Production

birth control pills

Birth control has long been mostly one-sided, as the vast majority of contraceptive methods are intended exclusively for women. However, recent IRP research has shown the potential of a new approach towards creating a reversible method of male contraception.

Women have a vast array of contraceptive options available to them, from ‘the pill’ to intrauterine devices (IUDs) and other products. However, for men, the only options aside from condoms are safe but irreversible surgical procedures. More than 40 percent of pregnancies in the U.S. are unintended, and additional options for male birth control could help reduce that number.

New Lasker Scholars Begin Breaking New Ground

Early-Career Scientists Power Through Pandemic to Launch Labs

NIH’s 2021 Lasker Clinical Research Scholars

NIH has long prided itself on its ability to accelerate the careers of the brightest young physicians and scientists in the country. One of these many efforts is the Lasker Clinical Research Scholars Program, which provides a select group of individuals relatively early in their scientific careers with the funding and institutional support to start their own labs at NIH. After five to seven years of independent research in the IRP, Lasker Scholars are given the option to apply for three years of funding for work outside of NIH or to remain as investigators at NIH.

While launching a lab in the midst of a global pandemic is no easy task, five Lasker Scholars have done just that over the past year. Their research on cancer, Parkinson’s disease, childhood blindness, and inflammatory conditions is now well underway and promises to eventually improve the lives of many patients. Keep reading to learn more about how NIH’s newest Lasker Scholars are changing the way we treat those illnesses.

Rare Genetic Mutation Links Two Neurological Diseases

Globe-Spanning Collaboration Connected ‘Viking Gene’ to Dementia and ALS

A man with ALS uses a head-mounted laser pointer to communicate with his wife by pointing to letters and words on a communication board

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.

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.

Scientists Douse Fat Burning to Combat Cancer

Inhibiting Energy Production Pathway Delays Tumor Formation in Mice

fire truck driving by a birthday party

Despite the common misconception that sugary treats send kids bouncing off the walls, fat actually provides more than twice as much energy as sugar and other carbohydrates. This energy can be a double-edged sword, fueling not just healthy cells but also cancerous ones. A new IRP study in mice suggests that reducing the body’s ability to burn fat molecules for energy could slow the formation of tumors, potentially extending the lives of individuals with strong genetic predispositions to cancer.

Gene Editing Reveals Potential Cancer Treatment Target

Scientists Parse Wide-Ranging Effects of Endometrial Cancer Mutation

a piece of DNA being removed from a DNA molecule

The so-called ‘butterfly effect’ supposes that a butterfly flapping its wings in Brazil can cause a tornado in Texas. While the jury is still out on insect-induced natural disasters, it is clear that a single genetic mutation can have wide-ranging and unexpected consequences throughout a cell. By examining the ripple effects caused by changes in a particular gene, IRP researchers have identified a potential treatment target for a particularly deadly variety of cancer.

Research Symposium Celebrates Graduate Student Science

Event Spotlights Students Completing Their Ph.D. Research in IRP Labs

NIH graduate student John Fenimore

The NIH provides an extraordinarily rich environment for learning and honing the skills needed to pursue a scientific career. It’s no wonder, then, that Ph.D. students from institutions all across the United States and the rest of the world come here to conduct their dissertation research under the mentorship of the IRP’s many renowned investigators.

Nearly 150 of those students presented the fruits of their scientific work at the NIH’s 16th annual Graduate Student Research Symposium on Thursday, February 20. The insights they have produced on topics from cancer to autoimmune disease to environmental contaminants were supremely impressive and will likely contribute to important improvements in medical care in the future. For anyone who missed this exciting event, read on to learn about a few of the many research projects that were on display.

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