DNA

Treatment Corrects Consequences of Accelerated Cellular Aging

Mouse Study Demonstrates Promise of New Therapy for Rare Genetic Conditions

time warp

If you ask a scientist how old you are, you may be surprised to get a different answer depending on who you’re talking to. That’s because age can be measured both ‘chronologically’ — in terms of time — and at a cellular level. Indeed, certain genetic mutations cause cells to age faster, leading to a host of health problems. Fortunately, a recent IRP study performed in mice suggests that boosting levels of a specific molecule could help alleviate some of those patients’ symptoms.

A Look Back at the IRP’s History-Making Women

NIH Archives Document the Tremendous Importance of Female Scientists

two female technicians working in the lab

Women’s History Month is celebrated every March, and women scientists have undoubtedly made invaluable contributions to IRP research over the course of NIH’s history. Despite this, women still remain under-represented in biomedical science at NIH and elsewhere today, prompting the IRP to make supporting the careers of female researchers an important priority. While NIH works to rectify the gender imbalance in scientific research, it’s important to take time to celebrate the many women who, even when confronted with significant historical obstacles, have made a name for themselves in the lab and on the pages of scientific journals. Join me in taking a look through the archives of the Office of NIH History & Stetten Museum to learn about some of the many women scientists who have been at the forefront of science and administration at NIH.

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.

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.

IRP’s Eugene Koonin Elected to National Academy of Medicine

Scientist Decoded DNA to Build a Genomic Tree of Life

Dr. Eugene Koonin

In 1973, the geneticist Theodosius Dobzhansky wrote a now-famous essay that declared, “Nothing in biology makes sense except in the light of evolution.” That sentiment has served as the guiding principle for the career of IRP senior investigator Eugene V. Koonin, Ph.D., who was elected to the National Academy of Medicine (NAM) in October 2022 for his contributions to the field of evolutionary biology.

Dr. Koonin’s pioneering efforts to identify clusters of similar genes found in different organisms passed down by a common ancestor — known as ‘homologous’ genes — has helped to unlock the secrets encoded in DNA and create a foundation for the systematic study of how genes evolve and function. His lab at the National Library of Medicine’s National Center for Biotechnology Information (NCBI) uses a combination of genomic sequencing and mathematical modeling to compare genes across species and determine how they work and where they came from. From this information, his team can develop a systematic framework to show the relationship between genes as they evolved. It’s like drawing the tree of life, but on a genomic scale.

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.

Understanding the Foundations of Immune Defenses

IRP’s Mary Carrington Elected to the American Academy of Arts and Sciences for Insights Into Immune System Variations

Dr. Mary Carrington

Some people never seem to get sick, while others catch a new bug of some sort every other week. Humans are immensely variable both in their capacity to shrug off illness and in the ways their bodies respond to medical treatments. IRP senior investigator Mary Carrington, Ph.D., has spent her entire career exploring the biological roots of these differences, and the discoveries she has made earned her election to the American Academy of Arts and Sciences earlier this year.

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.

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.