genome

Award Honors Promising Female Scientists

Women Scientists Advisors Select Three Young Researchers for Recognition

Dr. Sally Chang

While women have now overtaken men in terms of admission and enrollment in undergraduate education, they remain underrepresented in the sciences. This includes at NIH, where 74 percent of senior investigators and 54 percent of tenure-track investigators are male, according to the most recent statistics available. Consequently, NIH is putting considerable effort into supporting women scientists at all stages of their careers.

One NIH entity dedicated to this important work is the NIH Women Scientists Advisors (WSA), a group of women elected to represent the interests of women scientists in the IRP. Among its many initiatives, each year the WSA chooses several female postdoctoral fellows or graduate students in the IRP to receive the WSA Scholar Award in recognition of their outstanding scientific achievements. The awardees present their research at the annual WSA Scholars Symposium, which this year was held on April 25 and recognized young women leading efforts to better understand how disease-related genes evolved, an investigation of how a fatty liver can give rise to liver cancer, and the evaluation of a way to deliver gene therapy for a rare genetic disease. Read on to learn more about this year’s WSA Scholars and the impressive discoveries they have made during their time in the IRP.

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.

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.

The Social Side of Health

Understanding Social and Behavioral Research in the IRP

social and behavioral science diagram

The NIH IRP is world-renowned for its high-risk, high-reward biomedical research. While the NIH may be best known for its clinical and biomedical research on topics from cancer to allergies to addiction, IRP investigators have also produced a rich body of work conducted in the area of social and behavioral research (SBR). In this post, I will describe how SBR furthers the NIH’s goals of improving human health with some examples of the excellent work done by SBR investigators in the IRP.

IRP’s Elaine Ostrander Elected to National Academy of Sciences

Genetic Research in Dogs Sheds Light on Human Disease

Dr. Elaine Ostrander

The National Academy of Sciences, a private society established in 1863, is made up of the United States’ most distinguished scientific scholars, including nearly 500 members who have won Nobel Prizes. Members of the NAS are elected by their peers and charged with the responsibility of providing independent, objective advice on national matters related to science and technology in an effort to further scientific innovation in the U.S.

IRP Senior Investigator Elaine Ostrander, Ph.D., is one of four IRP researchers who were elected to the Academy over the past two years. As head of the Cancer Genetics and Comparative Genomics Branch at the NIH’s National Genome Research Institute (NHGRI), Dr. Ostrander focuses on expanding our understanding of the genetic basis of human disease. However, her team does not just study humans. In fact, Dr. Ostrander works with dog owners, breeders, and veterinarians to study our canine companions and understand which genes control the variations seen across dog breeds. She specifically focuses on genes that control growth and genes associated with cancer susceptibility in an effort to understand why changes in those particular genes can cause illness in humans.

NIH Mourns the Passing of Former Director James B. Wyngaarden

Along with scientists around the country and the world, the IRP community is mourning the loss of former NIH Director James B. Wyngaarden, M.D, who passed away on June 14. Dr. Wyngaarden served as the 12th NIH Director from 1982 to 1989. During that time, he guided the NIH's instrumental role in responding to the HIV/AIDS epidemic and initiating the Human Genome Project. He also played a key role in the creation of the NIH Children's Inn. 

Former NIH Director James B. Wyngaarden

Newly Discovered Mutation Causes Eye Disease

abnormal retina of a patient with retinitis pigmentosa

The Human Genome Project gave scientists an incredible roadmap of the thousands of genes used to construct the human body. However, many individuals harbor DNA that differs markedly from the standard reference sequence produced by that initiative, and these variations can have profound implications for a person’s health. A recent study led by IRP scientists has uncovered yet another of these genetic variants, a rare mutation that causes the eye disease retinitis pigmentosa.

Labradors, Terriers, and Boxers — Oh My! IRP Researchers Delve Into Doggy DNA

two breeds of dog that have massively differing physical traits

For over a decade, my family shared our home with a short, fat beagle named Kayla Sue. She had big floppy ears, a tail as straight as an exclamation point, and a coat of fur that was a patchwork of white, brown, and black splotches. Her love of chasing small animals was matched only by her enthusiasm for eating, napping, and belly rubs. One of my best friends growing up, on the other hand, had a mean-spirited Dachshund named Rocky who would not let anyone outside his family touch his long, brown, sausage-shaped body. Meanwhile, one of my brother’s close childhood friends had two humongous, overly-friendly, black-and-brown German shepherds that would immediately bowl you over when you walked through the front door.

It doesn’t take a particularly sharp observer to notice that, despite being the same species, the more than 300 breeds of dog have remarkably different physical and behavioral traits. But what remains less clear even today are the specific biological roots that produce these widely varying attributes. And, perhaps more importantly, scientists seek to understand how learning about that immense diversity might help us improve the health of our canine companions – and ourselves.