IRP’s Susan Harbison Unravels the Genetics of Sleep Disorders
Comedian George Carlin used to call sleep “a bizarre activity.” In his act, he observed, “For the next several hours, while the sun is gone, I’m going to become unconscious, temporarily losing command over everything I know and understand. When the sun comes up, I’ll resume my life.”
Every year on March 15, the celebration of World Sleep Day reminds us that sleep remains a baffling biological mystery. What happens when we sleep, why we need it, and why it varies so much between individuals are still unclear despite the best efforts of many scientists. That enduring enigma is what has driven IRP senior investigator Susan Harbison, Ph.D., to investigate the biological basis and genetics of sleep.
Treatment Could Benefit Patients With a Variety of Illnesses
Our blood is a miraculous mix of cells and critical fluids that keep our organs running and fight off dangerous infections. Of course, for blood to do its job, it has to stay in our veins and arteries, which is easier said than done for people with certain illnesses. Fortunately, a recent IRP study has demonstrated the promise of a potential new treatment for people with dangerously leaky blood vessels.
Several life-threatening conditions, including Ebola and sepsis due to an uncontrolled infection, cause the fluid component of blood to leak out of blood vessels. IRP senior investigator Kirk Druey, M.D., however, came to study the phenomenon through a very rare ailment called Clarkson disease, which causes patients to periodically experience ‘flares’ or ‘episodes’ when their veins and arteries suddenly and inexplicably start leaking.
Event Highlights Efforts of Early-Career Researchers
The IRP’s reputation as a leader in biomedical research attracts scientists in all stages of their careers and from all corners of the U.S. and the world. Once a year, the motley collection of graduate students who are completing their Ph.D. research in NIH labs gets to tout its scientific accomplishments at NIH’s Graduate Student Research Symposium, which took place this year on February 15.
During the event’s two poster sessions, more than 120 IRP graduate students presented the results of their research so far, from the development of better ways to grow retina-like collections of cells in the lab to insights into how the brain regulates feelings of hunger. Read on for a brief look at a few of the IRP’s brilliant budding scientists and the discoveries they showed off at the event.
Patients With Rare Metabolic Conditions Yield Insights Into Common Ailments
Young doctors are taught the adage, “When you hear hoofbeats, think horses, not zebras.” Just as you would not expect to find a zebra in your barn, when making a diagnosis, you generally don’t expect to find an unusual disease. However, just as there are still zebras in the world, there are also rare diseases. On Rare Disease Day, celebrated on the last day of February each year, we call attention to the 300 million people affected by them.
Defined as conditions that affect fewer than 1 in 2,000 people, rare diseases pose both challenges and opportunities to medical research. Because they are so uncommon, diagnosis can take years, and treatments may be difficult to obtain or may not yet exist. However, for IRP Lasker Clinical Research Scholar Rebecca J. Brown, M.D., M.H.Sc., the study of several rare metabolic diseases may shed light on the causes of one of the most common diseases in the U.S.
Allana T. Forde Unpacks Racial Disparities in Heart Health
Discrimination comes in many forms, and people experience it and cope with it in different ways. The accumulation of stress arising from discrimination can lead to wear and tear on the body in a process called ‘weathering’, which ultimately harms cardiovascular health. This is one of the key reasons Black Americans have a higher rate of cardiovascular disease than all other racial and ethnic groups in the U.S. and are much more likely to die from cardiovascular conditions than other racial and ethnic groups.
NIH Stadtman Investigator Allana T. Forde, Ph.D., M.P.H., hopes to reduce these startling health disparities by examining how psychosocial stressors, including discrimination, affect the cardiovascular health of subgroups of the Black population, including Afro-Caribbean, Afro-Latino, and African American individuals. She also endeavors to identify the protective and adaptive factors that impact the relationship between discrimination and cardiovascular health. In honor of American Heart Month, I spoke with Dr. Forde about her research on discrimination and cardiovascular health in Black Americans, as well as how her research might improve cardiovascular health and inform cardiovascular disease prevention strategies.
Dr. Dilys Parry died peacefully in her sleep in the early morning of February 2, 2024, after a long illness. For 30 years, Dr. Parry was a staff clinician and principal investigator in the Division of Cancer Epidemiology and Genetics (DCEG) at NIH's National Cancer Institute (NCI). Following her retirement from federal service in 2007 she continued to engage with her colleagues on projects as a special volunteer.
Dr. Parry’s medical genetics research focused primarily on genetic and clinical studies of neurofibromatosis 2 (NF2) and chordoma, a rare bone tumor derived from the notochord, and adult brain tumors. She was deeply committed to educating patients about the natural history of these diseases and helping them and at-risk relatives receive genetic testing or other types of screening to aid in early detection and treatment. Her research helped to identify susceptibility genes for and delineate the spectrum of clinical manifestations associated with NF2 and chordoma. She also elucidated correlations between the specific types of variants in the gene NF2 and clinical findings. Much of the momentum that exists in chordoma research traces back to Dr. Parry’s early interest in the disease.
Case Studies Highlight New Way to Treat Common Side Effect
New medical treatments nearly always come packaged with new side effects. CAR-T cell therapy, a game-changing ‘immunotherapy’ for cancer, is no exception. However, a set of case studies reported by IRP researchers could help physicians better contend with one of the therapy’s most worrisome complications.
CAR-T cell therapy involves collecting immune cells called T cells from a patient's blood, genetically modifying them to turn them into cancer killers, growing millions of the modified cells in the lab, and then returning the cancer-seeking missiles to the patient’s body. As promising as the approach is for eliminating cancer, the first CAR-T cell therapy was approved by the U.S. Food and Drug Administration (FDA) only a bit more than six years ago, so clinicians are still figuring out the best ways to manage its less desirable effects.
Sequencing the Human Genome Sparks Transformation in Medicine
Few people can say they got in on the ground floor of a foundational achievement in science, but that’s where Eric Green, M.D., Ph.D., Director of NIH’s National Human Genome Research Institute (NHGRI), found himself when he began his career. It’s no wonder, then, that he was elected to the prestigious National Academy of Medicine (NAM) in October 2023.
Thirty four years ago, as a newly minted physician-scientist, Dr. Green joined the Human Genome Project, an initiative that had among its leaders former NIH Director Francis Collins, M.D., Ph.D. The initiative aimed to determine the order of the roughly 3 billion DNA building blocks, called nucleotides, that constitute the genetic blueprint for building and operating our bodies. Today, Dr. Green leads the NIH Institute that was established to lead NIH’s contribution to that ambitious endeavor, overseeing the investigation and application of information and technologies that drive the application of genomics to modern-day medicine.
Mouse Study Could Aid Development of Treatments for Chronic Pain
Getting hurt or sick is bad enough, but millions of patients around the world continue to experience pain or hypersensitivity even after their ailment resolves itself. Despite the prevalence of chronic pain, few effective treatments are available, especially ones without the potential for addiction that opioid medications carry. However, new IRP research has shown that suppressing the electrical firing of neurons in a certain brain area can alleviate injury-induced hypersensitivity in mice, providing a promising new target for treatments aimed at relieving chronic pain.
IRP’s Katherine Grantz Develops Tools to Predict Pregnancy Complications
Advancements in medicine have reduced the risk of childbearing dramatically, but rates of maternal death have been creeping up in recent years. The reasons are varied. Older first-time parents, greater health concerns like obesity and hypertension, and lack of access to maternity care are important factors.
In observance of Maternal Health Awareness Day on January 23, we spoke with Katherine Grantz, M.D., a maternal-fetal medicine specialist and senior investigator at the Eunice Kennedy Shriver National Institute on Child Health and Human Development (NICHD). She is trying to improve health for pregnant people and their babies experiencing complications like gestational diabetes and hypertension, as well as reduce preterm deliveries and unnecessary C-sections.
This page was last updated on Friday, January 14, 2022
