Group items tagged

11:02 TED talk on genomic sequencing and impending changes in health care.

The elusive octopus genome has finally been untangled, which should allow scientists to discover answers to long-mysterious questions about the animal's alienlike physiology: How does it camouflage itself so expertly? How does it control-and regenerate-those eight flexible arms and thousands of suckers? And, most vexing: How did a relative of the snail get to be so incredibly smart-able to learn quickly, solve puzzles and even use tools?

Over the last decade, as DNA-sequencing technology has grown ever faster and cheaper, our understanding of the human genome has increased accordingly. Yet scientists have until recently remained largely ham-fisted when they've tried to directly modify genes in a living cell. Take sickle-cell anemia, for example. A debilitating and often deadly disease, it is caused by a mutation in just one of a patient's three billion DNA base pairs. Even though this genetic error is simple and well studied, researchers are helpless to correct it and halt its devastating effects.

Why does a snake have 25 or more rows of ribs, whereas a mouse has only 13? The answer, according to a new study, may lie in "junk DNA," large chunks of an animal's genome that were once thought to be useless. The findings could help explain how dramatic changes in body shape have occurred over evolutionary history. Scientists began discovering junk DNA sequences in the 1960s. These stretches of the genome-also known as noncoding DNA-contain the same genetic alphabet found in genes, but they don't code for the proteins that make us who we are. As a result, many researchers long believed this mysterious genetic material was simply DNA debris accumulated over the course of evolution. But over the past couple decades, geneticists have discovered that this so-called junk is anything but. It has important functions, such as switching genes on and off and setting the timing for changes in gene activity. 

Redwood trees, those ancient living monuments to California's past, are as mysterious to science as they are magnificent, so a team of researchers led by a San Francisco conservation group is attempting to unlock the genetic secrets of the towering conifers. Scientists affiliated with the nonprofit Save the Redwoods League are attempting for the first time to sequence the genomes of coast redwood trees and their higher-elevation cousins, the giant sequoias, a complex and expensive undertaking that experts hope will help preserve the trees' ancient groves as the climate changes over the next century.

The advent of increasingly powerful and inexpensive DNA sequencing methods is changing many aspects of genetics research. In particular, human genome sequencing is transforming our understanding of many aspects of human biology and medicine. However, we must be careful to remember that genes alone do not determine our futures-environmental factors and chance also play important roles.

problem, players, pieces of the puzzle, putting it together interactive on the genome.

5:04 video

3:16 video

3:27 video introduces genetics and DNA sequence

Published on Mar 19, 2015 : The twins were becoming sicker and sicker but no one knew why. Finally, through genomic sequencing, this baffling mystery was solved. Please Visit: http://unlockinglifescode.org/media/v...

As the leader of a project called Finding of Rare Disease Genes (FORGE) in Canada, Kym Boycott is one of the top experts in the world in the application of exome sequencing to solve rare disorders. The Canadian project involves a network of doctors and scientists all across the country looking to identify patients with rare childhood conditions and refer them when appropriate for sequencing and analysis.

Human and Chimp genome comparisons

In a unique twist on human genomics studies that seek to identify genetic variants linked to human disease, researchers have combined whole-exome sequencing of 50,726 adults with the individuals' long-term electronic health record (EHR) data. The effort, by researchers at the Geisinger Health System in Pennsylvania and Regeneron Genetics Center, a subsidiary of New York-based Regeneron Pharmaceuticals, has yielded novel disease-linked variants, including loss-of-function alleles. The team behind the project, called DiscovEHR, has also found that about one in 30 of the individuals harbors a deleterious genetic variant for which a screen or treatment already exists. The group's analysis is described in two papers published today (December 22) in Science.

Lying dormant in our genomes are millions of jumping genes. Originally discovered by Barbara McClintock, transposons are DNA sequences that can move from one location to another in our DNA. Transposons cause mutations when they jump to new locations, so keeping them from jumping is important. 

Researchers have made dramatic inroads into the study of polygenic and other complex human diseases, due in large part to knowledge of the human genome sequence, the generation of widespread markers of genetic variation, and the development of new technologies that allow investigators to associate disease phenotypes with genetic loci. Although polygenic diseases are more common than single-gene disorders, studies of monogenic diseases provide an invaluable opportunity to learn about underlying molecular mechanisms, thereby contributing a great deal to our understanding of all forms of genetic disease.

Sub-Saharan Africa is the most genetically diverse region in the world." The rates of susceptibility and not only whether or not someone becomes ill, but also whether or not they live or die, or even display symptoms, varies widely. The genetics of both this deadly strain of Ebola itself, and of the populations living in the affected areas, are at the forefront of the efforts by Dr. Moses as she works with Dr.Pardis Sabeti at Harvard to provide samples for genome sequencing.

As the genomes of more and more species are sequenced, geneticists are piecing together an extraordinarily detailed picture of the molecules that are fundamental to life on Earth. With modern techniques, we can not only trace how the bodies of animals have evolved, we can even identify the genetic mutations behind these changes and, as we recently reported, genes sometimes evolve in surprising ways. Here though, in celebration of the versatility of DNA, New Scientist presents five classic examples of gene evolution.

Panobinostat is a new type of drug that works by blocking an enzyme responsible for modifying DNA at the epigenetic level. Epigenetics refers to chemical marks on DNA itself or on the protein "spools" called histones that package DNA. These marks influence the activity of genes without changing the underlying sequence, essentially acting as volume knobs for genes. Earlier genomic studies showed that about 80 percent of DIPG tumors carry a mutation that alters a histone protein, resulting in changes to the way DNA is packaged and tagged with those chemical marks. This faulty epigenetic regulation results in activation of growth-promoting genes that should have been turned off, and shutdown of others that should have acted as brakes to cell multiplication. Cancer is the result. Panobinostat appears to work by restoring proper functioning of the cells' chemical tagging system.

We've harnessed electricity, sequenced the human genome, and eradicated smallpox. But after billions of dollars in research, we haven't found a solution for a disease that affects more than 14 million people and their families at any given time. Why is it so difficult to cure cancer? Kyuson Yun explains the challenges.