genome sequencing
Creative Minds: What Can Hibernation Tell Us About Human Health?
Posted on by Dr. Francis Collins
Credit: Karen Laubenstein (Big Game Alaska)/U.S. Fish and Wildlife Service
When bears, bats, and other animals prepare to hibernate, they pack on fat at an impressive pace to almost double their weight. As they drift off into their winter slumber, their heart rates, breathing, and metabolism slow dramatically. Hibernating mammals can survive in this state of torpor for a period of weeks or even months without eating or drinking anything at all!
It’s a fascinating and still rather mysterious process—and one that William Israelsen of The University of Texas Southwestern Medical Center, Dallas, thinks may yield intriguing insights with implications for human health. A recipient of a 2015 NIH Director’s Early Independence Award, Israelsen plans to use a little-known mouse species to study hibernation in the laboratory at a level of detail that’s not possible in the wild. He especially wants to learn how hibernating animals shift their metabolic gears over the course of the year, and what those findings might reveal about human obesity, cancer, and other health conditions.
Genome Sequencing: Exploring the Diagnostic Promise
Posted on by Dr. Francis Collins
Caption: Whole genome sequencing revealed that sisters Addison and Trinity Hanners, ages 7 and 10, shown here with their mother Hanna, have a rare syndrome caused by a mutation in the MAGEL2 gene.
Credit: Courtesy of the Hanners family
At the time that we completed a draft of the 3 billion letters of the human genome about a decade ago, it would have cost about $100 million to sequence a second human genome. Today, thanks to advances in DNA sequencing technology, it will soon be possible to sequence your genome or mine for $1,000 or less. All of this progress has made genome sequencing a far more realistic clinical option to consider for people, especially children, who suffer from baffling disorders that can’t be precisely diagnosed by other medical tests.
While researchers are still in the process of evaluating genome sequencing for routine clinical use, and data analysis continues to be a major challenge, one area of considerable promise centers on neurodevelopmental disorders. Such disorders—which affect about 3 percent of children—range from relatively common conditions like autism spectrum disorder to very rare conditions that impair the development of the brain or central nervous system. In the latest study, an NIH-funded research team reports that sequencing either a patient’s whole genome or whole exome (the 1.5 percent of the genome that encodes proteins) appears to be an effective—as well as a cost-effective—strategy for diagnosing neurodevelopmental disorders that have eluded diagnosis through standard means.
Creative Minds: Path to Longevity May Start With … Bats and Mole Rats!
Posted on by Dr. Francis Collins
Caption: DNA studies are unraveling the secrets of these mammals (clockwise from top left): naked mole rat, bowhead whale, and Brandt’s bat.
Credit: Clockwise from top left: Smithsonian’s National Zoo; National Oceanic and Atmospheric Administration; Vadim Gladyshev; National Human Genome Genome Research Institute, NIH
It started simply, with the analysis of a trace element in proteins. It led, through recognizing and following provocative patterns, to one of humanity’s greatest questions: what is the secret to a long life?
This intriguing scientific path, traveled by NIH Pioneer Awardee Vadim Gladyshev, has brought together an assortment of mammals, great and small. It has relied upon a veritable global treasure-hunt, with samples from Russian caves, East African tunnels, and Arctic oceans. It was Gladyshev’s scientific acumen that mapped this path. And it is comparative genomic analysis that provided the vehicle he has used to travel along it – right up to the threshold of new insights into healthier, longer life.
Creative Minds: Interpreting Your Genome
Posted on by Dr. Francis Collins
Credit: Jane Ades, National Human Genome Research Institute, NIH
Just this year, we’ve reached the point where we can sequence an entire human genome for less than $1,000. That’s great news—and rather astounding, since the first human genome sequence (finished in 2003) cost an estimated $400,000,000! Does that mean we’ll be able to use each person’s unique genetic blueprint to guide his or her health care from cradle to grave? Maybe eventually, but it’s not quite as simple as it sounds.
Before we can use your genome to develop more personalized strategies for detecting, treating, and preventing disease, we need to be able to interpret the many variations that make your genome distinct from everybody else’s. While most of these variations are neither bad nor good, some raise the risk of particular diseases, and others serve to lower the risk. How do we figure out which is which?
Jay Shendure, an associate professor at the University of Washington in Seattle, has an audacious plan to figure this out, which is why he is among the 2013 recipients of the NIH Director’s Pioneer Award.
