genetics

Duo Delves Into Genetics of Diabetes

Drs. Leslie Baier and Robert Hanson Identify Genetic Risk Factors in American Indians

A team of researchers at NIH’s campus in Phoenix, Arizona, is working with the local American Indian community to learn about genetic risk factors for type 2 diabetes.

November is both Diabetes Awareness Month and Native American Heritage Month. Unfortunately, the month of November is not the only link between Indigenous populations and diabetes. Members of minority groups have a much higher risk of developing type 2 diabetes and its many complications compared to the general population, and this is especially true of some American Indian tribes, whose members are twice as likely to have type 2 diabetes as white Americans.

At the Phoenix Epidemiology and Clinical Research Branch in Arizona, part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), IRP senior investigators Leslie J. Baier, Ph.D., and Robert Hanson, M.D., M.P.H., are working to understand why American Indians living in the southwestern U.S. are disproportionately affected by type 2 diabetes and obesity. Using family histories, medical records, and other data collected during a decades-long study of these communities, combined with extensive analysis of some of their participants’ DNA, their team has identified several genes that contribute to risk for those two conditions, along with some surprising findings about their prevalence.

A Conversation with NIH Director Francis Collins

World-Renowned Geneticist Discusses His Experience Leading NIH

Dr. Francis Collins

Francis S. Collins, who is stepping down from his post as NIH Director by the end of the year, spoke recently with staff from The NIH Catalyst, the NIH Record, and the “I am Intramural” Blog. Read on for a few highlights from that conversation, or read the full interview originally published The NIH Catalyst.

On NIH’s efforts to improve diversity in the scientific workforce

“Diversity is a hugely important issue for our workforce, our grantee community, and our clinical-trials participation. Several years ago I put together a diversity working group of my advisory committee, and out of that came the creation of a new position, the Chief Officer for Scientific Workforce Diversity. The initial holder of that post was Dr. Hannah Valantine, and now Dr. Marie Bernard leads the office. In addition, we have made real strides in increasing diversity in our intramural program through the Distinguished Scholars Program.

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.

Global Scientists Come Together at the National Institutes of Health

Individuals From Around the World Drive IRP Breakthroughs

Dr. Flossie Wong-Staal

Come to NIH and you’ll hear many accents. Scientists from around the world have always contributed significantly to the NIH mission. The resulting diversity of backgrounds and perspectives makes the NIH Intramural Research Program an extremely stimulating and productive environment. Read on to learn about some of the many scientists of the past and present who brought their talents from abroad to one of the world’s leading institutions for biomedical research.

Dog Genome Yields Clues to Human Cancer

IRP Research Identifies Genetic Risk Factors for Highly Lethal Disease

flat-coated retriever

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.

Rare Genetic Mutation Links Two Neurological Diseases

Globe-Spanning Collaboration Connected ‘Viking Gene’ to Dementia and ALS

A man with ALS uses a head-mounted laser pointer to communicate with his wife by pointing to letters and words on a communication board

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.

IRP’s Charles Rotimi Elected to American Academy of Arts and Sciences

Pioneering Genetic Epidemiologist Takes a Global Approach to Fighting Health Disparities

Dr. Charles Rotimi

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.

Postbac Poster Day Showcases Young Scientific Talent

Scientists-in-Training Impress at Virtual Event

Malcolm Udeozor

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.

How a Marker for Genetic Damage Changed the Study of DNA

Decades Later, IRP Researcher’s Discovery Is Used in Labs Around the World

Dr. William Bonner

National DNA Day, held on April 25, commemorates the completion of the Human Genome Project in 2003 and the day in 1953 when a research team led by Drs. James Watson, Francis Crick, Maurice Wilkins, and Rosalind Franklin published their groundbreaking paper on the structure of DNA in the journal Nature.

The mapping of DNA’s structure opened the door to modern genetics and our current understanding of how DNA affects the health and survival of all living things. Since then, there have been numerous additional major leaps forward in the field of genetics. Among them was the discovery of a universal hallmark of DNA damage by IRP Scientist Emeritus William Bonner, Ph.D., an advance that revolutionized the study of how cells sense and repair genetic defects. Dr. Bonner’s findings paved the way for a deeper understanding of cell biology, as well as clinical advances for treating cancer and for assessing risks from radiation in the environment.

RNA-Targeting Therapeutic Restores Protein Absent in Spinal Muscular Atrophy

New Approach Could Enhance Existing Treatments for Debilitating Genetic Disease

complimentary RNA and DNA nucleotides

The prospect of editing our DNA to treat genetic diseases may have captured the imaginations of scientists and the public in recent years, but that doesn’t mean there aren’t other ways of combating these illnesses. Many promising therapies act not on DNA itself but rather on DNA’s often overlooked cousin, RNA. For instance, experiments in cells performed by IRP researchers have shown promising results or a RNA-targeting therapeutic developed to treat the debilitating genetic disease spinal muscular atrophy.