IRP’s Elaine Ostrander Elected to National Academy of Sciences

Genetic Research in Dogs Sheds Light on Human Disease

Monday, August 26, 2019

Dr. Elaine Ostrander

IRP senior investigator Elaine Ostrander studies the dog genome in order to learn more about genetic influences on human health.

The National Academy of Sciences (NAS), established in 1863, is comprised of the United States’ most distinguished scientific scholars, including nearly 500 Nobel Prize winners. 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.

Dr. Ostrander first began this research during her post-doctoral fellowship at the University of California, Berkeley. She and her mentor, Jasper Rine, Ph.D., had the idea to study animal genomes to improve the scientific understanding of genomics and, in particular, the human genome. The two were motivated to study dogs due to the vast amount of variation seen amongst the 450 different breeds that are nonetheless classified as a single species.

“We thought a lot about the different types of dogs and what their genes could potentially look like,” Dr. Ostrander says. “We wanted to understand how there could be herding dogs, guard dogs, big dogs, and little dogs and how their genomes vary. It’s a very interesting biological question.”

However, much of dog evolution was caused by humans who bred dogs with specific traits to create the modern, widely varying breeds we know today. This form of evolution offers researchers a tremendous advantage compared to studying human biology because, within a single breed of dogs, all dogs will have the same set of genetic variants for a given trait.

basset hound
The large, floppy ears of the basset hound are an example of a trait produced by centuries of deliberate breeding. 

“If you think of a disease such as epilepsy, there are a number of epilepsy genes in both humans and dogs,” Dr. Ostrander explains. “However, in a single dog breed there is likely only going to be one or two mutated genes responsible for the disease, which is not the case in human genetics.”

This process of breaking down the functions of interesting genes often leads to fascinating insights. For example, Dr. Ostrander’s lab discovered that certain variants of two genes were predominantly present in big dogs compared to small dogs. However, the lab also found that mutations in that gene, while having no detrimental health effects in dogs, are associated with obesity and metabolic defects in humans. By studying such genes, Dr. Ostrander’s lab hopes to provide further insights into why the same genes can behave normally in healthy dogs but lead to disease in humans.

Despite the momentous accolade, Dr. Ostrander has no plans to rest on her laurels. In particular, she would like to see the cancer-related work in her lab continue to grow, since dogs and humans are diagnosed with cancer at similar rates. Moreover, with the exception of prostate cancer, both species typically are diagnosed with the same types of cancer and respond to treatment similarly. Dr. Ostrander hopes to study the genetic similarities and differences between the two species in an effort to make a meaningful difference to human — and dog — cancer care. At the same time, Dr. Ostrander still hopes to address the question that initiated her research years ago: understanding the genes linked to natural behavioral patterns in dogs and their functions in the human genome.


Dr. Ostrander’s innovative work utilizing dogs to understand genetic traits important to human health is what led the National Academy of Sciences to recognize her as a leader in the scientific community.

“Being elected to the Academy is not just flattering to me, but I feel that it’s a great endorsement of my community,” Dr. Ostrander says. “Studying genetics in dogs has not been seen as mainstream, and this recognition from the community confirms that we’re doing really terrific science.”

“It’s bigger than me,” she continued. “It’s a great validation for all the people who have been working to build dog genetics as a way of thinking about, understanding, and tackling problems in human health and biology over the last 15 to 20 years.”

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Category: Science