DNA

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.

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.

Reducing Stress Boosts Efficiency of Bacterial Factories

Unconventional Genetic Strategy Could Enhance Production of Medical Treatments

E. coli bacteria

We all have bad days on the job — your colleague keeps bugging you, your boss yelled at you for an innocent mistake, and you skipped lunch because you have 10 different deadlines coming up. Understandably, many people find it much harder to get their work done under such stressful circumstances. Microbes that produce chemicals for medicine and scientific research experience similar struggles, but a recent IRP study has found that short-circuiting their stress response makes them far more efficient at that task.

IRP Grad Students Present a Scientific Smorgasbord

Virtual Symposium Showcases Scientists-in-Training

IRP graduate students Khalin Nisbett, Julia Gross, Luis Rivera García, and Temesgen Andargie

Even in the midst of a global pandemic, life at NIH goes on. IRP researchers continue to run experiments, publish scientific papers, and train the next generation of scientists, including the many graduate students performing research in IRP labs through the Graduate Partnership Program. On February 17 and 18, more than 100 of these scientists-in-training presented their work virtually at the NIH’s 17th annual Graduate Student Research Symposium. Like last year’s entirely online Postbac Poster Day, the event overcame the constraints of COVID-19 precautions to showcase a broad range of research, including several studies focused on the novel coronavirus.

A Multi-Front Effort to Combat Coronavirus

IRP Research Examines Pandemic From All Angles

scientist working in the lab

The sheer number of labs and wide variety of scientific perspectives in the IRP make it particularly well-suited to combating a disease like COVID-19, which is affecting patients’ health and the world around them in a huge number of ways. IRP researchers specializing in psychology, genetics, epidemiology, and many other disciplines are pursuing an array of strategies to learn more about the novel coronavirus.

IRP’s Andre Nussenzweig Elected to National Academy of Medicine

NIH Researcher Recognized for Investigation into Genomic Stability

Dr. Andre Nussenzweig

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 senior investigator Andre Nussenzweig, Ph.D., was one of four IRP researchers recently elected to the NAM. Dr. Nussenzweig leads the Laboratory of Genome Integrity at the National Cancer Institute (NCI), where he studies how cells repair a form of DNA damage called a double strand break (DSB). This type of insult, which severs both strands of the double-stranded DNA molecule, is one of the most dangerous. If not repaired properly, DSBs can kill cells or cause DNA to rearrange in ways that are associated with cancer. Moreover, while DSBs can be caused by chemotherapy drugs and radiation, they can also happen by random chance during the course of normal cellular processes. Intriguingly, not all parts of the DNA molecule are equally susceptible to this form of damage.