clinical trials

Unlocking the Genetic Mysteries of Rare Autoinflammatory Diseases

IRP Researcher Finds Explanations and Hope

child getting her cheek swabbed for DNA analysis

Rare Disease Day, celebrated on or near February 29 — the rarest day on the calendar — calls attention to the 300 million people in the world who have some sort of rare disease. For children born with one of those diseases, speedy diagnosis and treatment may be necessary to ward off long-term complications, but that’s much easier said than done. This is especially true for pediatric autoinflammatory diseases, in which the immune system attacks the child’s own body. IRP senior investigator Raphaela T. Goldbach-Mansky, M.D., M.H.S., has made it her mission to discover and define these diseases and the genes that cause them, and then find a way to provide treatment. 

Alternative Therapy Relieves Immunotherapy’s Neurological Consequences

Case Studies Highlight New Way to Treat Common Side Effect

child with cancer

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.

A New Tool in the Battle Against Depression

Annual Lecture Details Revolutionary Treatment’s Bench-to-Bedside Journey

depressed man in a dark room

As hard as IRP scientists work in the lab, they work equally hard to make sure their findings have a real-world impact on patients’ lives. The pathway from the lab to the clinic, though, is rarely straightforward — something IRP senior investigator Carlos Zarate Jr, M.D., knows first-hand from his game-changing innovations in treating depression.

Dr. Zarate closed this year’s NIH Research Festival on September 22 by describing that odyssey in the 16th annual Philip S. Chen, Jr., Ph.D. Distinguished Lecture on Innovation and Technology Transfer. Named in honor of the former IRP investigator who established NIH’s Office of Technology Transfer in 1986, the annual event celebrates important IRP innovations that have moved beyond the boundaries of NIH.

Sugar Molecule Could Resolve Rare Diseases

IRP Research Hastens Development of First Treatment for Genetic Muscle Condition

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.

Bringing Out the Big Guns Against Blood Cancer

IRP Research Shows Benefits of More Intensive Treatments for Certain Patients

woman receiving chemotherapy treatment

Fate can be cruel, especially when it comes to a rare, highly fatal blood cancer called acute myeloid leukemia (AML). Even when months of intensive chemotherapy appear to cause a complete remission of the disease — meaning doctors cannot detect any remaining cancer cells in a patient’s body — roughly half of those patients see the cancer return within two years, or even as soon as six months. Sadly, most of them don’t survive their second bout with the disease.

As a medical student, IRP senior investigator Christopher Hourigan, M.D., D.Phil., thought this outcome was unfair. More than that, he thought it indicated that the standard ways doctors determined if an AML patient was in remission were inadequate, and that remission might not even be the right goal. That’s why he has focused his career on finding ways to detect, prevent, and treat AML recurrence, known in his field as ‘relapse’.

“I was a scientist before I became a doctor, and it was really eye-opening to me, when I started to practice medicine, how difficult some of the treatment decisions were and how limited the information available was to inform those decisions,” Dr. Hourigan says.

Leading the Charge Against Infectious Disease

Government Awards Recognize H. Clifford Lane’s Four Decades of Research Achievements

Dr. H. Clifford Lane

The remarkable career of H. Clifford Lane, M.D., might have gone very differently if a NIH scientist hadn’t accidentally eavesdropped on Dr. Lane’s conversation with a colleague in 1979. After hearing Dr. Lane mention that he had missed the deadline to apply for a position at NIH, the NIH researcher made some calls and discovered a spot there had just opened up — one that was perfect for Dr. Lane, who would spend the ensuing decades conducting life-saving research to understand and combat some of the world’s most dangerous infectious diseases.

Now the Clinical Director at the National Institute for Allergy and Infectious Disease (NIAID), Dr. Lane has been named a finalist for the 2022 Samuel J. Heyman Service to America Medals’ Career Achievement Award in recognition of his crucial contributions to the fight against HIV/AIDS, Ebola, COVID-19, and other illnesses. Also known as the “Sammies,” the awards recognize federal employees who are “breaking down barriers, overcoming huge challenges, and getting results.”

Pain Research Center Accelerates IRP Pain Studies

Dedicated Staff and Cutting-Edge Technology Helps Solve Pain’s Many Mysteries

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.

Breakthrough Treatment Brings Hope to Children with Tumor Disorder

Brigitte Widemann Recognized for Pioneering Work on Debilitating Disease

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.

A Ray of Hope for a Rare and Deadly Skin Cancer

IRP Research Leads to First FDA-Approved Therapy for Merkel Cell Carcinoma

Dr. James Gulley talking with a patient

May is Skin Cancer Awareness Month. Skin cancers are the most common cancer in the U.S., affecting as many as five million people every year. Yet the rarest of these cancers is also one of the deadliest. Merkel cell carcinoma affects about 3,000 Americans each year, and until recently a lack of effective treatments meant only half of patients survived five years or longer after diagnosis. The median survival was nine months.

This bleak outlook changed radically in 2017 with the US Food and Drug Administration (FDA) approval of a new immunotherapy drug called avelumab. Developed through a collaboration between IRP researchers and the pharmaceutical company EMD Serono, Inc., and marketed as Bavencio, avelumab was the first treatment approved specifically for Merkel cell carcinoma.

IRP’s Cynthia Dunbar Elected to National Academy of Medicine

Studies of Blood Stem Cells Stimulate Pioneering Therapeutic Approaches

Dr. Cynthia Dunbar

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 Distinguished Investigator Cynthia E. Dunbar, M.D., was elected to the NAM last year for her pioneering research into hematopoietic stem cells, the cells in bone marrow that develop into oxygen-carrying red blood cells, infection-fighting white blood cells, and clot-forming platelets. Her work has led to valuable insights into the production of those blood cells, called hematopoiesis, and its role in human health. Her discoveries have also resulted in new approaches to treat disease by improving stem cell functioning or manipulating stem cells with gene therapy.