genetics

Celebrating NIH's History-Making Women

As Women's History month draws to a close, we’d like to introduce you to some of the IRP researchers who have received the honor of delivering the Anita B. Roberts Lecture. The Anita B. Roberts Lecture Series is organized by the NIH Women Scientist Advisors Committee to highlight outstanding research achievements by female scientists at NIH. The series is supported by the Office of Research on Women’s Health.

Dr. Anita B. Roberts

Three Billion Base Pairs vs. One Powerful Computer

a stand of DNA

The human genome comprises roughly three billion base pairs and around 20,000 protein-coding genes, according to recent estimates. That’s a lot of information crammed into the tiny nucleus of a cell, and it doesn’t even include the many genes that do not produce a protein or the fact that most genes come in multiple flavors that vary in different individuals. Add to that the phenomenon of an identical gene being either more or less active in two different people and you can quickly end up with genomic datasets that would overload nearly any computer. Fortunately for IRP senior investigator Daniel Levy, M.D., the NIH IRP has one of the few computer systems in the world that can handle this mountain of information.

CRISPR Pioneer Jennifer Doudna Headlines NHGRI 25th Anniversary Celebration

It seems like every day there is a new story in a prominent news outlet about the revolutionary gene-editing approach known as CRISPR/Cas9. What these reports often fail to mention is all the scientific discoveries that paved the way for that groundbreaking technology, including the key contributions of government scientists working in the Intramural Research Program of NIH’s National Human Genome Research Institute (NHGRI). Last week, the NHGRI IRP celebrated its 25th anniversary with a day-long symposium headlined by a keynote from the co-discoverer of CRISPR/Cas9, University of California, Berkeley professor Dr. Jennifer Doudna.

Dr. Jennifer Doudna

Francis Collins, NIH Director, Answers Reddit’s Genomics Questions

two young boys looking down at the genetic code

Ever since the Human Genome Project (HGP) launched in 1990, patients and members of the public have been inundated with predictions about how unraveling the mysteries of genetics will revolutionize healthcare. Today, many of these promises remain unrealized, prompting some to become skeptical of the true utility of this research for improving human health. But, while more work is needed to fully realize the potential of genome-focused medicine, it remains true that patients are benefiting from our knowledge of the human genome in numerous, sometimes under-appreciated ways.

Straight Out of Star Trek: The Biomedical Boon of Virtual Reality

Once confined to the realms of science fiction, virtual reality (VR) has crossed over into the real world in a wide array of fields, including scientific research and clinical medicine. In the IRP, several researchers are utilizing the cutting-edge technology in their efforts to improve human health.

Susan Persky, Ph.D., for instance, runs the Immersive Virtual Environment Test Unit, where she uses VR to simulate how genetic information might affect doctor-patient interactions and influence patients’ emotions, beliefs, and decisions. She has also put the technology to use studying the food choices of overweight and obese individuals by presenting them with a simulated buffet. Meanwhile, John Ostuni, Ph.D., explores how VR might help doctors diagnose or treat patients, such as by providing access to physical therapy without going to the hospital. And Victor Cid, M.S., creates virtual reality scenarios for the Disaster Information Management Research Center that can train emergency personnel how to more effectively respond to major crises.

On Friday, February 23, they joined several NIH colleagues for a Reddit “Ask Me Anything” (AMA) to answer questions from the public about how virtual reality might change the way medicine and research are practiced and ultimately make people’s lives better. Read on for some of the most interesting exchanges that took place or check out the full AMA on Reddit.

A summer student in the lab of Susan Persky, Ph.D., tests out a virtual reality headset

HIV Uses Host's Own Immune Molecules for Protection

an HIV-infected T cell

In one of Aesop’s classic fables, a clever wolf dons a sheep’s skin in order to move through the herd undetected. As it turns out, IRP researchers have discovered that in people with a specific set of immune system genes, the HIV virus uses a similar approach to hide from the body’s defenses.1

Nearly all cells in our bodies are coated with proteins called human leukocyte antigens (HLAs). These proteins allow the immune system to distinguish between healthy, native cells and those contaminated by unwelcome visitors like viruses or bacteria that must be destroyed. Each of the various HLA proteins is encoded by a different HLA gene and these genes vary considerably between individuals, causing different people to have different variants of each HLA protein.

“There are thousands of different forms of these HLA genes, and that variation allows us, as a species, to deal with virtually all infectious pathogens,” says IRP Senior Investigator Mary N. Carrington, Ph.D., the senior author of the new paper. “We’re really interested in the diversity of that part of the genome, since the risk of essentially every autoimmune disease, many cancers, and probably every infectious disease is associated with this set of genes.”

Twitter Chat Shines Spotlight on Rare Diseases

Between 25 and 30 million Americans have a rare disease, defined as a condition affecting fewer than 200,000 people. On March 1, the NIH will host its annual Rare Disease Day to increase awareness of these under-recognized and often undiagnosed illnesses and highlight the efforts of scientists, patients, and advocates to produce treatments.

In anticipation of the occasion, on February 23, NIH organized a Twitter chat with NIH Director Francis Collins, M.D., Ph.D., and Sharon Terry, President and CEO of Genetic Alliance and a member of the Research Program Advisory Panel for NIH’s All of US project. Check out some of the more noteworthy exchanges below or look at the full Twitter chat by searching for #NIHchat on Twitter.

NIH Rare Disease Day logo

Little Fish in a Big Pond Reveal New Answers to Old Questions

Reblogged from The NICHD Connection.

Dr. Eric Horstick in the lab

Studying the neural control of behavior is a challenge. Researchers must consider an animal’s environment, past experiences, and motivations. Work in relatively simple organisms, for example the invertebrate C. elegans, has teased apart the neural circuitry of highly stereotyped behaviors, like foraging. But in mammals, very little is known, “and that’s surprising given just how important behaviors like this are,” said Dr. Eric Horstick, who studies the molecular mechanisms underlying animal behavior.

Cool Videos: Looking Inside Living Cells

Reblogged via the NIH Director's Blog.

ASCB Celldance 2016 — “Discovery Inside Living Cells in Multicellular Organisms” Roberto Weigert

Roberto Weigert is a cell biologist who specializes in intravital microscopy (IVM), an extremely high-resolution imaging tool that traces its origins to the 19th century. What’s unique about IVM is its phenomenal resolution can be used in living animals, allowing researchers to watch biological processes unfold in organs under real physiological conditions and in real time.

Four NIH IRP Researchers Elected to National Academy of Medicine

NIH National Academy of Medicine 2016

This year, members of the National Academy of Medicine elected four NIH Intramural researchers to their ranks, one of the highest honors in science. Learn a bit about each of their research and follow the links to their IRP profiles for more information.