IRP Research Identifies Genetic Risk Factors for Highly Lethal Disease
We may share our food and even our beds with them, but despite what many dog lovers might like to believe, our canine companions are not humans who just happen to walk on four legs. One thing we do have in common, though, is the array of genetic diseases that afflict both man and man’s best friend. As a result, scientists can learn a great deal about human illnesses by studying dogs. Using this approach, IRP researchers recently discovered genetic variants that likely play an important role in a rare and poorly understood form of cancer.
George Harold Patterson, a senior investigator and chief of the Section on Biophotonics at NIH’s National Institute of Biomedical Imaging and Bioengineering (NIBIB), died of complications from pancreatic cancer on June 20, 2021. He was only 50 years old, recently tenured, with a wife, two small children, and a promising career before him. We are just so sad about the loss of this warm friend and brilliant and creative scientist taken away far too soon.
George's research focused on the development of probes and techniques for diffraction-limited and sub-diffraction-limited fluorescence imaging of cells and tissues. Indeed, as a staff scientist in the NIH lab of Jennifer Lippincott-Schwartz, George worked intimately with Eric Betzig in the development of the nanometer-level resolution techniques that earned Eric a Nobel Prize in 2014.
Globe-Spanning Collaboration Connected ‘Viking Gene’ to Dementia and ALS
June was an important month in the life of baseball great Lou Gehrig. It was the month he was born and the month he was first picked for the Yankees’ starting lineup. Sadly, it was also the month in 1939 when he was diagnosed with the neurological disease that bears his name — Lou Gehrig’s disease, also known as amyotrophic lateral sclerosis (ALS) — and the month he died of that disease two years later. It is appropriate then that ALS Awareness Day is observed on June 21 as a day of hope for those searching for effective treatments and, ultimately, a cure.
IRP senior investigator Bryan J. Traynor, M.D., Ph.D., a neurologist at the National Institute on Aging (NIA), is one of the people leading that search. Best known for his work unraveling the genetic causes of ALS and frontotemporal dementia (FTD), he led an international consortium of researchers that uncovered a mutation on chromosome 9 that is the most common ‘familial’ cause of both ALS and FTD. In fact, this mutation, which disrupts the function of the C90RF72 gene, is responsible for 40 percent of all familial cases of ALS and FTD in European and North American populations, meaning cases in which a family member also has the disease. The discovery, published in 2011, revolutionized the scientific understanding of neurodegenerative diseases and the relationships between them. It also suggested a potential target for future gene therapies.
Pioneering Genetic Epidemiologist Takes a Global Approach to Fighting Health Disparities
IRP distinguished investigator Charles Rotimi, Ph.D., was elected to the American Academy of Arts and Sciences this year in recognition of his pioneering work exploring the health implications of genetic diversity in populations with African ancestry, as well as for globalizing the study of genomics, particularly in African nations. Dr. Rotimi joined NIH in 2008 as the founding director of the Intramural Center for Genomics and Health Disparities in the National Human Genome Research Institute (NHGRI), which was later renamed the Center for Research on Genomics and Global Health, in part to reflect Dr. Rotimi’s globe-spanning research programs.
Human and Animal Studies Point to New Treatment Strategy
Interest in the low-carb ‘ketogenetic’ diet has exploded in recent years, with legions of enthusiasts jumping on the bandwagon. The popular dietary regimen has even caught the attention of scientists seeking new treatments for an array of health conditions. For instance, a recent IRP study suggests that a ketogenic diet might make it easier for people with alcohol use disorder to stop drinking.
Vaccine Research Facilitated Rapid Response to Ebola Outbreak
IRP Senior Investigator Heinz Feldmann, M.D., was elected to the National Academy of Medicine (NAM) last year for leading the development of the technology that resulted in the first Ebola vaccine approved by the US Food and Drug Administration (FDA) and used by the World Health Organization (WHO) to combat the deadly disease. Election to the NAM is considered one of the highest honors in the fields of health and medicine.
As chief of the Laboratory of Virology at the National Institute of Allergy and Infectious Diseases (NIAID), Dr. Feldmann’s work focuses on viruses like Ebola that cause hemorrhagic fever, a condition marked by fever, weakness, muscle pain, and sometimes bleeding. These highly contagious viruses require specialized laboratories and strict safety procedures to study.
Study in Mice Suggests a New Approach to Treating Periodontal Disease
Our teeth are extremely tough, but neglectful oral hygiene practices and certain genetic disorders can still massively damage them. If this deterioration becomes bad enough, teeth can be permanently lost. In a recent study, IRP researchers identified a promising new strategy for helping the body regenerate a part of the tooth that is particularly difficult to repair.
Despite the challenges of working during a global pandemic, IRP scientists continue to make groundbreaking discoveries and mentor the next generation of researchers. This includes the hundreds of recent college graduates conducting research in NIH labs through the Postbaccalaureate IRTA program. On April 28, 29, and 30, many of these budding scientists presented the fruits of their efforts at this year’s virtual Postbac Poster Day. Read on to learn about a small sampling of the scientific strides NIH’s postbacs are making.
IRP Research Leads to First FDA-Approved Therapy for Merkel Cell Carcinoma
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.
Findings Point to Approaches for Staving Off Health Problems in Infected Individuals
Over the four decades since it mysteriously began destroying the immune systems of Americans in New York and California, HIV has proven to be a frustratingly wily opponent for scientists. Even today, when treatments can fully suppress the virus in infected individuals, it continues to harm their health. A new IRP study has identified several ways dormant HIV might chronically stimulate the immune system, suggesting potential avenues for preventing the health problems that causes.
This page was last updated on Friday, January 14, 2022