gene

Decoding Cancer’s Genetic Blueprint

IRP’s Stephen Chanock Elected to National Academy of Medicine

Dr. Stephen Chanock

IRP senior investigator Stephen J. Chanock, M.D., grew up on the NIH campus, spending many weekends hanging around his father’s lab. Robert M. Chanock, M.D., worked at NIH for 50 years, during which he identified the human respiratory syncytial virus and was elected to the National Academy of Medicine (NAM) for his discoveries. Now, following in his dad’s footsteps, the younger Dr. Chanock has been elected to the NAM for his contributions to our understanding of how inherited genetic variation and environmental factors contribute to the risk of developing cancer.

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. 

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.

A Promising Path to Saving Stiffening Livers

IRP Study Could Lead to New Treatments for an Increasingly Prevalent Liver Ailment

fatty liver

Experienced bakers know certain ingredients are impossible to work with when they’re not supple enough — just try making cookies with ice-cold butter or rock-hard brown sugar. The same could be said of the liver, which struggles to do its job when high levels of fat accumulate in it and trigger a process that binds the liver up in an inflexible mesh. Recent IRP research has identified a key set of biochemical events responsible for that ailment, pointing the way towards a possible method of treating an increasingly prevalent cause of liver disease.

NHGRI Director Eric Green Elected to National Academy of Medicine

Sequencing the Human Genome Sparks Transformation in Medicine

Dr. Eric Green next to a drawing of a DNA molecule

Few people can say they got in on the ground floor of a foundational achievement in science, but that’s where Eric Green, M.D., Ph.D., Director of NIH’s National Human Genome Research Institute (NHGRI), found himself when he began his career. It’s no wonder, then, that he was elected to the prestigious National Academy of Medicine (NAM) in October 2023.

Thirty four years ago, as a newly minted physician-scientist, Dr. Green joined the Human Genome Project, an initiative that had among its leaders former NIH Director Francis Collins, M.D., Ph.D. The initiative aimed to determine the order of the roughly 3 billion DNA building blocks, called nucleotides, that constitute the genetic blueprint for building and operating our bodies. Today, Dr. Green leads the NIH Institute that was established to lead NIH’s contribution to that ambitious endeavor, overseeing the investigation and application of information and technologies that drive the application of genomics to modern-day medicine.

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.