Beverly Gage came to the NIH with a condition that had never been observed before. A mysterious genetic mutation that caused her chronic joint pain and inflammation led her to Dr. Michael Ombrello, an expert in rare inflammatory diseases at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). Where their paths cross shows us the current challenges of diagnosing, treating, and living with a disorder that is new to science.
Sugars, also referred to as carbohydrates, aren’t just substances we add to make coffee taste less bitter or food sweeter; they are an entire class of molecules necessary for life. The study of these carbohydrates is called glycobiology. Dr. John Hanover is a glycobiologist and the chief of the laboratory of cell and molecular biology at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). His work is advancing scientists’ understanding of the sugar structures responsible for rare diseases and genetic transgenerational inheritance.
Radioactive drugs carry radioactive substances that can be engineered to specifically target and kill tumor cells inside the body. In 2018, the FDA approved a radioactive drug called Lutathera to treat tumors that affect the pancreas or gastrointestinal tract. Now, scientists at the NIH led by Dr. Frank Lin are testing whether Lutathera can also be effective against rare tumors of the adrenal glands. Dr. Lin is a clinician and researcher focused on bringing radioactive drugs — also known as radionuclides — from bench to bedside. His work could accelerate the development of new therapies for patients with rare cancers who have few or no other treatment options.
When people refer to the NIH as the “National Institutes of Hope,” Dr. Bill Gahl is one of the many people who come to mind. Dr. Gahl is a medical geneticist working to help patients with rare and undiagnosed diseases. His research group focuses on inborn errors of metabolism, which include defects in the body’s biochemical processes caused by rare genetic disorders, such as cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and ciliopathies. Transcending biomedical boundaries to take advantage of the IRP’s unique team-science environment, Dr. Gahl led the creation of the NIH’s Undiagnosed Diseases Program to provide answers and possible treatments for people with mysterious conditions that have long eluded diagnosis.
