Brigitte Widemann Recognized for Pioneering Work on Debilitating Disease
By Melissa Glim
Wednesday, August 18, 2021
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.
Custom-Built Molecule May Improve On Its Natural Counterpart
By Melissa Glim
Monday, February 22, 2021
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.
IRP Study Could Help Identify Women at Greater Risk for Fertility Problems
By Brandon Levy
Tuesday, February 2, 2021
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.
NIH Researcher Recognized for Insights into Genetic Immune System Diseases
By Brandon Levy
Monday, June 8, 2020
The National Academy of Medicine (NAM), first established in 1970 by the National Academy of Sciences as the Institute of Medicine (IOM), is comprised of more than 2,000 elected members from around the world who provide scientific and policy guidance on important matters relating to human health. Election to the NAM is considered one of the highest honors in the fields of health and medicine and recognizes individuals who have not only made critical scientific discoveries but have also demonstrated a laudable commitment to public service.
IRP senior investigator Luigi Notarangelo, M.D., was one of four IRP researchers recently elected to the NAM. As the head of the Immune Deficiency Genetics Section and the Laboratory of Clinical Immunology and Microbiology at the National Institute of Allergy and Infectious Diseases (NIAID), Dr. Notarangelo investigates the cellular and molecular roots of genetic conditions called primary immune deficiencies that compromise the immune system. These illnesses leave patients — many of whom are children — highly vulnerable to infections and can also lead to autoimmune problems caused when the immune system attacks the body’s own tissues. Some of Dr. Notarangelo’s patients have known genetic mutations, while for others the source of their disease remains a mystery.
Volunteering for Studies Allows Me to Help Myself and Others
By Noah Victoria
Friday, February 28, 2020
Watching my dad carry the luggage to the car has become an all-too-familiar sight. It’s time for my mom and me to head to the NIH again, another trip in a lifelong journey for answers. I give my dad a long hug goodbye, and then I watch him stand alone in the driveway as we back away. The gravel arduously aches and crunches under our tires, a sound as uncomfortable as my symptoms even on my good days — few as there are.
Discovery Could Improve Therapy for Multiple Autoimmune Diseases
By Brandon Levy
Tuesday, August 20, 2019
Hiding among YouTube’s vast collection of cooking demos and funny cat videos are clips of patients and their advocates designed to raise awareness of specific diseases. It was just such a video that led IRP Senior Investigator Peter Grayson, M.D., M.Sc., to begin studying an extremely rare illness called deficiency of adenosine deaminase 2, or DADA2 for short. The recently published findings of that research could help improve treatment not just for patients with DADA2 but also many more individuals with similar ailments.
By Brandon Levy
Tuesday, February 27, 2018
Between 25 and 30 million Americans have a rare disease, defined as a condition affecting fewer than 200,000 people. On March 1, the NIH will host its annual Rare Disease Day to increase awareness of these under-recognized and often undiagnosed illnesses and highlight the efforts of scientists, patients, and advocates to produce treatments.
In anticipation of the occasion, on February 23, NIH organized a Twitter chat with NIH Director Francis Collins, M.D., Ph.D., and Sharon Terry, President and CEO of Genetic Alliance and a member of the Research Program Advisory Panel for NIH’s All of US project. Check out some of the more noteworthy exchanges below or look at the full Twitter chat by searching for #NIHchat on Twitter.
By IRP Staff Blogger
Monday, April 10, 2017
Isaac was born to fight. Arriving more than five weeks early by emergency C-section, it wasn’t just his way of coming into the world that made him different from his three brothers. While he initially looked healthy, his parents soon realized Isaac’s health was something he and the entire family would need to be fighting for every single day.
By IRP Staff Blogger
Monday, April 25, 2016
Six months after turning two, Eli Palmer still wasn’t walking, and his parents, Julie and Seth, had begun to worry. But they figured their fourth child was growing at his own pace and would soon catch up.
By Elizabeth Burke
Monday, June 1, 2015
What is a rare disease? And how rare is “rare”? When I began my research at the NIH, I had a textbook understanding of rare diseases, but now, after four years as a postdoc in the IRP, I understand a bit more of what it means to the patients and researchers who try to help them.
