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I am Intramural Blog

rare diseases

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

NIH Archives Document the Tremendous Importance of Female Scientists

Monday, March 27, 2023

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

Tuesday, February 28, 2023

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

Friday, February 10, 2023

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

Tuesday, December 6, 2022

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

Wednesday, July 13, 2022

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

Thursday, May 5, 2022

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.

Genetic Sequencing Solves Drug Reaction Mystery

Immune System Genes Linked to Severe Side Effects in Patients with Rare Disease

Tuesday, January 11, 2022

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.

Breakthrough Treatment Brings Hope to Children with Tumor Disorder

Brigitte Widemann Recognized for Pioneering Work on Debilitating Disease

Wednesday, August 18, 2021

Dr. Brigitte C. Widemann

Getting diagnosed with a serious illness as an adult can be devastating, so one can hardly imagine the impact of receiving such news as a child, particularly when the disease has no good treatments. Until recently, this was the case for many children with the potentially severe and frequently disfiguring condition neurofibromatosis type 1 (NF1). However, pioneering research led by IRP senior investigator Brigitte C. Widemann, M.D., led to the first-ever drug approved by the U.S. Food and Drug Administration (FDA) to treat the condition. For this groundbreaking work, Dr. Widemann, her IRP research team, and her collaborators outside NIH were named as finalists for the 2020 Samuel J. Heyman Service to America Medals, also known as the ‘Sammies,’ an award that honors exceptional work by government employees.

Designer Drug Uses Double Whammy to Fight Heart Disease

Custom-Built Molecule May Improve On Its Natural Counterpart

Monday, February 22, 2021

plaque buildup in an artery

Ten years ago, a young woman from Chicago came to the National Institutes of Health with a rare genetic condition. A mutation in her DNA was making her metabolic system malfunction, causing levels of fat molecules called triglycerides in her blood to skyrocket far out of the normal range. This triggered inflammation in her pancreas, a painful and potentially life-threatening condition known as pancreatitis. She couldn’t understand why there wasn’t any kind of treatment to help her.

IRP senior investigator Alan T. Remaley, M.D., Ph.D., took on the challenge with the help of Anna Wolska, Ph.D., a research fellow in his lab. Dr. Remaley leads the Lipoprotein Metabolism Section in the National Heart, Lung, and Blood Institute (NHLBI), where he and Dr. Wolska study lipoproteins, small particles that transport fats such as cholesterol and triglycerides through the bloodstream to be broken down and used by cells for energy. Their efforts to help that young woman ultimately led to the discovery — published last January — of a new strategy for reducing triglycerides in order to treat serious ailments like pancreatitis and heart disease.

Rare Genetic Variants Underlie Susceptibility to Reproductive Disruption

IRP Study Could Help Identify Women at Greater Risk for Fertility Problems

Tuesday, February 2, 2021

pregnancy test

As the calendar page turned from 2020 to 2021, many people adopted major lifestyle changes like healthier eating or significantly increasing their physical activity. While these New Year’s resolutions will likely improve their overall health, they could also wreak havoc on the reproductive cycles of a small set of women. New IRP research sheds light on the genetic factors that make some women susceptible to diet- or exercise-induced disruptions to their reproductive systems.

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