rare diseases

Fighting the Fungus Among Us

Overactive Immune Response Sets Stage for Infection

various fungi growing in a petri dish

Fungal infections are a serious medical threat to many people, especially those who are critically ill or have weakened immune systems. What’s more, outbreaks are on the rise, as studies show that rising global temperatures are causing fungi to evolve into new strains and grow in regions that were once too cold for comfort. Recent outbreaks include a tragic incident at a Michigan paper mill that sickened nearly 100 people and caused one death, as well as a cluster of fungal infections that have killed at least seven women who underwent cosmetic surgery at clinics in Mexico.

Commemorating Fungal Disease Awareness Week this week brings attention to the importance of combating fungal threats to our well-being. The theme this year is ‘Think Fungus,’ and that’s exactly what IRP senior investigator Michail Lionakis, M.D., Sc.D., has been doing for the last 20 years.

Crucial Protein Reins in Overzealous Bone Growth

IRP Study Answers Key Questions About Bone Development and Healing

man with fractured foot

The idea that there can be “too much of a good thing” applies just as much to the human body as it does to an overly sweet dessert or excessive holiday decorations. For instance, you might think that rapid bone growth would be helpful for fixing fractures, but it can actually make bones weaker in the long run. A recent IRP study revealed how a certain molecule manages the way bones develop in a growing fetus and heal after damage to make sure they don’t trade strength for speed.

Talk Science to Me

IRP Researchers Leave Jargon Behind for Three-Minute Talks Competition

scientist speaking into a megaphone

Scientific research is often said to take place in an “ivory tower” — not exactly an image associated with accessibility, trust, or empathy. Yet it is essential that members of the public be able to understand the work that researchers devote their lives to.

In recognition of that need, dozens of IRP postbacs, graduate students, and postdocs participate each year in NIH’s Three Minute Talks (TmT) competition. On June 22, this year’s eleven finalists offered clear and concise descriptions of their efforts to unfold the mysteries of proteins’ shapes, discover the lethal role of inflammation in infections, repackage cancer therapies to enhance their effectiveness, and much more.

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.

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.

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.

Pain Research Center Accelerates IRP Pain Studies

Dedicated Staff and Cutting-Edge Technology Helps Solve Pain’s Many Mysteries

collage of researchers working with volunteers

For such a common ailment, pain remains a significant mystery. Part of the challenge of studying it is that it occurs in so many conditions and can vary from a mild ache to life-altering misery. Fortunately for both pain patients and IRP researchers studying pain, the NIH Pain Research Center has the technology and expertise to power new discoveries about pain in its many, complex forms.

On March 31 and April 1, NIH’s National Center for Complementary and Integrative Health (NCCIH) hosted a two-day virtual symposium titled “Tackling Pain at the National Institutes of Health: Updates From the Bench, the Clinic, and the New NIH Pain Research Center,” which featured presentations from a number of IRP scientists exploring important questions related to pain. Read on to learn more about some of the research discussed during that event, including efforts examining pain in patients with rare diseases, early-phase clinical trials of a new pain treatment, and investigations of how psychological factors can affect the way people experience pain.