clinical trials

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.

An Ebola Therapy Two Decades in the Making

IRP Researcher Nancy Sullivan Led Development of Cutting-Edge Treatment

a volunteer receives an infusion of an experimental Ebola therapy during a phase I clinical trial

Twenty-four years before the novel coronavirus began spreading in Wuhan, China, an outbreak of another deadly virus burned through the city of Kikwit in what is now the Democratic Republic of Congo. Between January and August of 1995, 316 people are thought to have contracted Ebola, and 252 of them died. More than a decade later, a team of NIH infectious disease scientists would track down one of the survivors and use a sample of the individual’s blood to produce one of the first effective treatments for Ebola.

IRP Clinical Trials Provide Irreplaceable Hope

Volunteering for Studies Allows Me to Help Myself and Others

NIH research participant Noah Victoria in a patient room at the NIH Clinical Center

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.

Shedding Light on the Deep Darkness of Depression

Dr. Carlos Zarate with a participant in a neuroimaging study

In 2016, more than one in twenty American adults and one in ten adolescents experienced at least one major depressive episode. For nearly 45,000 of these individuals, their condition was severe enough that it led them to take their own lives. Unfortunately, the medications currently available to treat depression are not always effective and can take up to six weeks to substantially reduce symptoms.

To improve treatment and accelerate symptom relief, IRP senior investigator Carlos Zarate Jr., M.D., is working towards the development of new medications for depression, along with the identification of new drug targets and objective measures called biomarkers that yield information about how a patient is responding to treatment. In recent years, his lab has extensively investigated and assessed the effects of the anesthetic drug ketamine on depression and suicidal thoughts. Many of the patients in his trials have had marked and rapid responses to ketamine, sometimes within a single day or just a couple of hours. 

On Tuesday, November 13, Dr. Zarate participated in a Reddit “Ask Me Anything” (AMA) to answer questions from the public about the way depression is currently treated and the latest efforts to develop cutting-edge therapies for the condition. Read on for some of the most interesting exchanges that took place or check out the full AMA on Reddit.