genetics

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.

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.

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.

Duo Delves Into Genetics of Diabetes

Drs. Leslie Baier and Robert Hanson Identify Genetic Risk Factors in American Indians

A team of researchers at NIH’s campus in Phoenix, Arizona, is working with the local American Indian community to learn about genetic risk factors for type 2 diabetes.

November is both Diabetes Awareness Month and Native American Heritage Month. Unfortunately, the month of November is not the only link between Indigenous populations and diabetes. Members of minority groups have a much higher risk of developing type 2 diabetes and its many complications compared to the general population, and this is especially true of some American Indian tribes, whose members are twice as likely to have type 2 diabetes as white Americans.

At the Phoenix Epidemiology and Clinical Research Branch in Arizona, part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), IRP senior investigators Leslie J. Baier, Ph.D., and Robert Hanson, M.D., M.P.H., are working to understand why American Indians living in the southwestern U.S. are disproportionately affected by type 2 diabetes and obesity. Using family histories, medical records, and other data collected during a decades-long study of these communities, combined with extensive analysis of some of their participants’ DNA, their team has identified several genes that contribute to risk for those two conditions, along with some surprising findings about their prevalence.

A Conversation with NIH Director Francis Collins

World-Renowned Geneticist Discusses His Experience Leading NIH

Dr. Francis Collins

Francis S. Collins, who is stepping down from his post as NIH Director by the end of the year, spoke recently with staff from The NIH Catalyst, the NIH Record, and the “I am Intramural” Blog. Read on for a few highlights from that conversation, or read the full interview originally published The NIH Catalyst.

On NIH’s efforts to improve diversity in the scientific workforce

“Diversity is a hugely important issue for our workforce, our grantee community, and our clinical-trials participation. Several years ago I put together a diversity working group of my advisory committee, and out of that came the creation of a new position, the Chief Officer for Scientific Workforce Diversity. The initial holder of that post was Dr. Hannah Valantine, and now Dr. Marie Bernard leads the office. In addition, we have made real strides in increasing diversity in our intramural program through the Distinguished Scholars Program.