gene

Dialing Down the Brain’s Pain Thermostat

IRP Researchers Discover Center for Pain Control in the Brain

a thermostat inside somebody's head

While pain may be a sensation created by the brain, that doesn’t mean it’s all in your head. New research is showing how a delicate interplay between opposing types of neurons deep within the brain dials pain sensations up and down in response to injuries and other experiences.

September is Pain Awareness Month, a time to recognize that pain is a fact of life. However, while short-term pain is a critical warning system that keeps us from touching hot stoves and prompts us to visit the doctor for necessary medical care, the chronic pain experienced by nearly 100 million Americans often serves no protective purpose. To add insult to injury, this constant and often debilitating pain can evade both explanation and effective treatment.

Sugar Molecule Could Resolve Rare Diseases

IRP Research Hastens Development of First Treatment for Genetic Muscle Condition

cartoon highlighting one person in a crowd

An old medical adage warns doctors that when they hear hoofbeats, they should first think of horses, not zebras. After all, when someone comes into the hospital with a cough, the most likely explanation is something mundane like the flu. However, some patients truly are medical zebras, affected by a disease that afflicts very few others.

IRP senior investigator Marjan Huizing, Ph.D., has learned quite a bit about those zebras since arriving at the National Human Genome Research Institute (NHGRI) as a postdoctoral fellow in 1998. To help commemorate Rare Disease Day today, Dr. Huizing spoke with the “I Am Intramural” blog about her research on an array of ailments linked to a small sugar molecule called sialic acid, some of which are extremely rare.

Friendly Virus Could Deliver Gene Therapy Under Immune System’s Radar

IRP Research Points to New Tool for Alleviating Genetic Disorders

antibodies combatting viral particles

With all the dangerous viruses out there, from the seasonal flu to the novel coronavirus that causes COVID-19, people understandably want to make sure their immune systems are topped-up with disease-fighting antibodies that block viral invaders. However, when it comes to the viruses scientists are modifying to deliver gene therapy, having a robust immune response is actually an obstacle to getting healthy. In a new study, IRP researchers showed that most people’s immune systems don’t react to a particular harmless virus that can effectively deliver new genes to the liver and heart, making it a promising delivery vehicle for therapies designed to alleviate a life-threatening genetic condition.

Mosquitos With Human Gene Hinder Malaria Transmission

Genetically Modified Insects Could Help Curb Infections

transgenic mosquitos with blue, red, and green eyes

“Scientists create genetically modified mosquitos” sounds like the plot of a bad sci-fi movie, but it’s actually the reality in labs all around the world. Researchers are producing these ‘transgenic’ mosquitos in the hopes that the bugs could help combat the scourge of malaria, and in a recent study, IRP scientists demonstrated that their unique strategy in this realm has strong potential to accomplish that goal.

Three-Minute Talks Showcase Smooth-Talking Scientists

IRP Researchers Engage and Educate at Competition Finals

Three-Minute Talks poster

English is generally considered the ‘international language of science,’ since nearly all scientific papers are published in English. Yet, even to a native English speaker, scientists seem to be using another language entirely to talk about their research. Most Americans, after all, don’t know an ‘autophagosome’ from a ‘lysosome’ and would be hard-pressed to explain the difference between an ‘oocyst’ and a ’sporozoite.’

Fortunately, efforts like NIH’s annual Three-Minute Talks (TmT) competition are helping scientists learn how to communicate about their research in a manner that is much easier to understand. On June 30, after months spent whittling down dozens of competitors from across the IRP, 10 finalists raced against the clock to explain their work and its importance in a clear and compelling way.

Postdoc Profile: From Bench to Bedside and Back Again

Dr. Stefan Barisic Turns Laboratory Discoveries into Kidney Cancer Treatments

Dr. Stefan Barisic

The Laboratory of Transplantation Immunotherapy sits at the heart of the NIH Clinical Center, just down the hallway from the Southeast inpatient unit. Here, IRP postdoctoral research fellow Stefan Barisic, M.D., labors at the bench with the goal of creating practical treatments for kidney cancer patients. Having such proximity to his patients was one of the chief attractions of working at NIH for Dr. Barisic.

“The NIH Clinical Center is an amazing place because it has all the resources you need to go from the bench to the bedside and back to the bench all in one building,” says Dr. Barisic.

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.

Restoring the Flow of Precious Saliva

IRP Researchers Aim to Regenerate Damaged Salivary Glands

open mouth showing tongue

It’s easy to take our saliva for granted. Most people have so much of it that they think nothing of spitting it out into a trash can when they finish chewing a stick of gum. Perhaps only people who have lived without it truly understand the great gift that is a perpetually moist mouth.

“Persistent dry mouth causes lots of problems with quality of life, and people forget how important saliva is until they lose it,” says IRP senior investigator Matthew Hoffman, B.D.S., Ph.D.

In honor of World Oral Health Day on March 20, a celebration of scientific efforts to reduce the burden of oral disease, I talked with Dr. Hoffman about his lab’s efforts to understand the biology of salivary gland dysfunction and translate that knowledge into treatments that bring relief to the many people suffering from it.

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.