genetics

A Crystal Ball for Prostate Cancer Treatment

IRP’s Dr. Adam Sowalsky Looks to Tumors’ Origins to Predict Outcomes

crystal ball

"Skate to where the puck is going, not where it has been." — hockey great Wayne Gretzky

Imagine two men, both diagnosed with prostate cancer. For one, the disease will remain a quiet shadow, never seriously threatening his life. For the other, it will become an aggressive adversary, resisting treatments and altering his future. This June, as Men's Health Month brings such realities into focus, a critical question echoes in clinics and labs: how can we identify early on which cancer will turn dangerous, and how can we use that knowledge to change a patient's outcome for the better? 

IRP senior investigator Adam G. Sowalsky, Ph.D., believes the answer lies not just in how cancer adapts during treatment, but in the evolutionary traits it already possesses when it first emerges. 

Translating Genetic Findings Into Dementia Treatments

Tracing the Path From Bench to Bedside

brain behind DNA molecule

When IRP graduate student Pilar Alvarez Jerez looked at the results of a recent experiment, she noticed that when a particular genetic variant is present in a gene called GBA1, it causes a change in the gene's activity. The GBA1 variant, which is associated with Parkinson’s disease and Lewy body dementia, was discovered last year in people of African ancestry by researchers at NIH’s Center for Alzheimer's and Related Dementias (CARD). It appears to suppress the gene’s ability to make a functional version of an enzyme that helps brain cells recycle their proteins.

“This was an interesting finding, but it still didn’t answer how the variant was functioning to lower enzyme activity,” Pilar says.

IRP’s Thomas Kunkel Elected to National Academy of Sciences

Scientist Honored for Discoveries About DNA Replication

Dr. Thomas Kunkel

Our cells’ ability to create more of themselves is crucial for many aspects of health, but a cell without DNA can’t do all that much. For that reason, perhaps the most crucial step in cell division is the replication of DNA. IRP Distinguished Investigator Thomas Kunkel, Ph.D., has spent his career trying to understand DNA replication, what happens when the process goes wrong, and what influences the likelihood of mistakes. Earlier this year, he was elected to the National Academy of Sciences (NAS) in recognition of his extensive contributions to this field.

Drilling Down Into DNA and Disease

Catching Up With Former NIH Director Francis Collins

DNA

It has been 20 years since researchers around the world successfully mapped most of the roughly 20,000 genes that make up the human genome. Former NIH Director Francis Collins, M.D., Ph.D. led the Human Genome Project through most of its 13-year progression and continues to push the limits of genetics today. As we celebrate National DNA Day on April 25, the 71st anniversary of the publication of DNA’s double-helix structure, we took some time to catch up with Dr. Collins and learn what he’s been up to since he stepped down as NIH Director in December 2021.

The dozen or so researchers in Dr. Collins’s lab focus on the role of genes in a variety of diseases, ranging from conditions caused by rare mutations in single genes to common ailments influenced by the interplay of hundreds of genes, lifestyle behaviors, and environmental factors. His two main research interests are type 2 diabetes and Hutchinson-Gilford progeria syndrome, a rare disorder that causes exceptionally rapid aging in children.

From Fruit Fly Genes to Sweet Dreams

IRP’s Susan Harbison Unravels the Genetics of Sleep Disorders

swarm of fruit flies on an apple

Comedian George Carlin used to call sleep “a bizarre activity.” In his act, he observed, “For the next several hours, while the sun is gone, I’m going to become unconscious, temporarily losing command over everything I know and understand. When the sun comes up, I’ll resume my life.”

Every year on March 15, the celebration of World Sleep Day reminds us that sleep remains a baffling biological mystery. What happens when we sleep, why we need it, and why it varies so much between individuals are still unclear despite the best efforts of many scientists. That enduring enigma is what has driven IRP senior investigator Susan Harbison, Ph.D., to investigate the biological basis and genetics of sleep.

NIH Mourns the Passing of Dilys Parry

Dr. Dilys Parry

Dr. Dilys Parry died peacefully in her sleep in the early morning of February 2, 2024, after a long illness. For 30 years, Dr. Parry was a staff clinician and principal investigator in the Division of Cancer Epidemiology and Genetics (DCEG) at NIH's National Cancer Institute (NCI). Following her retirement from federal service in 2007 she continued to engage with her colleagues on projects as a special volunteer. 

Dr. Parry’s medical genetics research focused primarily on genetic and clinical studies of neurofibromatosis 2 (NF2) and chordoma, a rare bone tumor derived from the notochord, and adult brain tumors. She was deeply committed to educating patients about the natural history of these diseases and helping them and at-risk relatives receive genetic testing or other types of screening to aid in early detection and treatment. Her research helped to identify susceptibility genes for and delineate the spectrum of clinical manifestations associated with NF2 and chordoma. She also elucidated correlations between the specific types of variants in the gene NF2 and clinical findings. Much of the momentum that exists in chordoma research traces back to Dr. Parry’s early interest in the disease.

NHGRI Director Eric Green Elected to National Academy of Medicine

Sequencing the Human Genome Sparks Transformation in Medicine

Dr. Eric Green next to a drawing of a DNA molecule

Few people can say they got in on the ground floor of a foundational achievement in science, but that’s where Eric Green, M.D., Ph.D., Director of NIH’s National Human Genome Research Institute (NHGRI), found himself when he began his career. It’s no wonder, then, that he was elected to the prestigious National Academy of Medicine (NAM) in October 2023.

Thirty four years ago, as a newly minted physician-scientist, Dr. Green joined the Human Genome Project, an initiative that had among its leaders former NIH Director Francis Collins, M.D., Ph.D. The initiative aimed to determine the order of the roughly 3 billion DNA building blocks, called nucleotides, that constitute the genetic blueprint for building and operating our bodies. Today, Dr. Green leads the NIH Institute that was established to lead NIH’s contribution to that ambitious endeavor, overseeing the investigation and application of information and technologies that drive the application of genomics to modern-day medicine.

Taming Inflammation in the Intestines

IRP’s Warren Strober Breaks Down the Causes of Inflammatory Bowel Disease

man with stomach pains

For many, the holiday season brings expectations of delicious meals and treats with family and friends, but the nearly 1.6 million Americans who have inflammatory bowel disease (IBD) may need to skip these delights or endure serious digestive distress. It’s fitting, then, that the first week of December is Crohn’s and Colitis Awareness Week, an occasion that calls attention to the two conditions lumped together under the umbrella of IBD.

Of course, no awareness week is needed to remind IRP senior investigator Warren Strober, M.D., of the importance of learning more about those two conditions. An expert in how the immune system operates within the digestive system, Dr. Strober has spent decades looking for ways to provide relief for IBD sufferers.

Targeting Tumors in the Brain

IRP Research Brings Hope to Patients with Deadly Cancer

glioma brain tumor

Among the many forms of brain cancer, glioma may be the most well-known, having recently taken the lives of Ted Kennedy in 2009, John McCain in 2018, and actor Tim Conway in 2019. Despite the attention drawn to it by the deaths of these public figures, glioma remains both mysterious and highly lethal. Fortunately, IRP researchers are fighting back against this stubborn foe. In preparation for World Brain Day on July 22, we talked with IRP Lasker Clinical Research Scholar Jing Wu, M.D., Ph.D., about her efforts to better understand glioma and identify potential therapies to treat the deadly disease.

Treatment Corrects Consequences of Accelerated Cellular Aging

Mouse Study Demonstrates Promise of New Therapy for Rare Genetic Conditions

time warp

If you ask a scientist how old you are, you may be surprised to get a different answer depending on who you’re talking to. That’s because age can be measured both ‘chronologically’ — in terms of time — and at a cellular level. Indeed, certain genetic mutations cause cells to age faster, leading to a host of health problems. Fortunately, a recent IRP study performed in mice suggests that boosting levels of a specific molecule could help alleviate some of those patients’ symptoms.