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.
Tags: diagnosis, DNA sequencing, early infantile epileptic encephalopathy 11, exome sequencing, genome sequencing, human genome, MAGEL2, molecular diagnostics, neurodevelopmental disorders, sequencing costs, undiagnosed diseases
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.
Posted In: Science
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.
Posted In: Science
Tags: breast cancer, CADD, Combined Annotation-Dependent Depletion, cystic fibrosis, Daniela Witten, DNA, ENCODE, epigenomics, exome, genome sequencing, human genome, Jay Shendure, multiplex approaches, NIH Early Independence Award, NIH Pioneer Award, ovarian cancer, point mutation, precision medicine, protein, variants