genes

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.

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.

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.

Designer Drug Uses Double Whammy to Fight Heart Disease

Custom-Built Molecule May Improve On Its Natural Counterpart

plaque buildup in an artery

Ten years ago, a young woman from Chicago came to the National Institutes of Health with a rare genetic condition. A mutation in her DNA was making her metabolic system malfunction, causing levels of fat molecules called triglycerides in her blood to skyrocket far out of the normal range. This triggered inflammation in her pancreas, a painful and potentially life-threatening condition known as pancreatitis. She couldn’t understand why there wasn’t any kind of treatment to help her.

IRP senior investigator Alan T. Remaley, M.D., Ph.D., took on the challenge with the help of Anna Wolska, Ph.D., a research fellow in his lab. Dr. Remaley leads the Lipoprotein Metabolism Section in the National Heart, Lung, and Blood Institute (NHLBI), where he and Dr. Wolska study lipoproteins, small particles that transport fats such as cholesterol and triglycerides through the bloodstream to be broken down and used by cells for energy. Their efforts to help that young woman ultimately led to the discovery — published last January — of a new strategy for reducing triglycerides in order to treat serious ailments like pancreatitis and heart disease.

Rare Genetic Variants Underlie Susceptibility to Reproductive Disruption

IRP Study Could Help Identify Women at Greater Risk for Fertility Problems

pregnancy test

As the calendar page turned from 2020 to 2021, many people adopted major lifestyle changes like healthier eating or significantly increasing their physical activity. While these New Year’s resolutions will likely improve their overall health, they could also wreak havoc on the reproductive cycles of a small set of women. New IRP research sheds light on the genetic factors that make some women susceptible to diet- or exercise-induced disruptions to their reproductive systems.

IRP’s Julie Segre Elected to the National Academy of Medicine

NIH Researcher Recognized for Investigation into the Skin Microbiome

Dr. Julie Segre

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 that recognizes individuals who have not only made critical scientific discoveries but have also demonstrated a laudable commitment to public service.

IRP senior investigator Julie Segre, Ph.D., was one of four IRP researchers elected to the NAM in 2019. Dr. Segre leads the Translational and Functional Genomics Branch at the National Human Genome Research Institute (NHGRI), where she studies the way in which the skin forms a barrier between the body and the environment. In particular, her research uses genetic sequencing to understand the bacterial and fungal microbes that live on human skin.

Medical Research Scholars Reflect on Their NIH Journeys

Future Physician-Scientists Spent a Year in IRP Labs

MRSP participant working in the lab

Many doctors not only treat patients directly, but also make valuable contributions to research that will improve medical care in the future. Each one of these talented ‘physician-scientists’ began his or her research career under the guidance of a more senior scientist. At the NIH, the Medical Research Scholars Program (MRSP) provides just such an experience to promising young medical students from all across the United States.