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.
For Dr. Steve Holland, the mystery of why some people are more prone to disease is as much a curiosity as it is a calling. Dr. Holland is the scientific director and chief of the immunopathogenesis section at the National Institute of Allergy and Infectious Diseases (NIAID) where he searches for signs to explain differences in susceptibility to certain infections. In this episode, he discusses how the immune system can thwart its own defenses by producing antibodies that block the chemical signals it needs to put up a fight.
Centuries of selective breeding have given rise to a staggering variety of dog breeds, each with its own traits and behaviors. But shallow gene pools have also put some breeds at higher risk for disease. Dr. Elaine Ostrander runs the Dog Genome Project at the National Human Genome Research Institute. Her team includes Dr. Heidi Parker. Together, they are digging for clues to understand how genes code for dogs' diversity and disease. Clues that might also inform the health of their two-legged caregivers.
Small errors can quickly escalate to have large repercussions. When it comes to cancer, molecular changes to DNA can trigger chain reactions that cause cells to go awry and spread uncontrollably. Dr. Louis Staudt works to identify such changes, known as genetic mutations, and find ways to stop them from snowballing into a deadly disease. In this episode, Dr. Staudt recounts the story of how he differentiated subtypes of lymphomas to develop a treatment for patients as an early success of precision medicine.
Anybody who observes a person with a neurological illness like Tourette syndrome or schizophrenia can clearly see how these conditions affect behavior. What’s much more difficult to determine is how these ailments relate to changes in the brain. Dr. Armin Raznahan is a child psychiatrist who uses a genetics-first approach and state-of-the-art neuroimaging tools to examine how the size and shape of the brain differ in children and adolescents with neuropsychiatric disorders compared to healthy individuals. His discoveries about these illnesses could ultimately improve our ability to identify and treat people who have them, as well as predict which children might develop them.
This is Part 2 of our conversation with Dr. Dennis Drayna, a human geneticist who has identified mutations in several genes that cause communications disorders, particularly stuttering, using family- and population-based genetic methods. Dr. Drayna's team studies the biochemical and cellular effects of these mutations and how they may cause specific neuronal pathologies. With so much to cover, we divided this episode into two parts. Here, we continue to explore stuttering research and delve into Dr. Drayna’s perspectives about research and research training at the NIH, as well as his lab’s ground-breaking work on how genetic variation affects the sense of taste and how population-specific genetic factors can influence preference for menthol in cigarettes, a common flavor additive that is particularly popular among African American smokers.
Dr. Dennis Drayna is a human geneticist who has identified mutations in several genes that cause communications disorders, particularly stuttering, using family- and population-based genetic methods. Dr. Drayna's team studies the biochemical and cellular effects of these mutations and how they may cause specific neuronal pathologies. With so much to cover, we divided this episode into two parts. Here, in Part 1, we discuss Dr. Drayna’s research into the genetics of stuttering. In Part 2, to follow, we continue to explore stuttering research and delve into Dr. Drayna’s perspectives about research and research training at the NIH, as well as his lab’s ground-breaking work on how genetic variation affects the sense of taste and how population-specific genetic factors can influence preference for menthol in cigarettes, a common flavor additive that is particularly popular among African American smokers.
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.
