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In the February 19, 2014 issue of Science Translational Medicine (Sci Transl Med. 2014 Feb 19;6(224):224ra24), Bettegowda and colleagues in the Sol Goldman Pancreatic Cancer Research center at Johns Hopkins report on an exciting approach to the detection of pancreatic cancer. Bettegowda and colleagues applied cutting edge DNA sequencing to blood samples from a large number of patients with a number of different cancers. They found that many cancers, even some small curable cancers, shed mutant DNA into the blood.

Almost every cell in the human body has the same DNA sequence. So why is a heart cell different from a brain cell? Cells use their DNA code in different ways, depending on their jobs - just as the orchestra in this video can perform one piece of music in many different ways. The combination of changes in gene expression in a cell is called its epigenome.

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.

Almost every cell in the human body has the same DNA sequence. So why is a heart cell different from a brain cell? Cells use their DNA code in different ways, depending on their jobs - just as the orchestra in this video can perform one piece of music in many different ways. The combination of changes in gene expression in a cell is called its epigenome

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.

The 1000 Genomes Project is an international collaboration to produce an extensive public catalog of human genetic variation, including SNPs and structural variants, and their haplotype contexts. This resource will support genome-wide association studies and other medical research studies. The genomes of about 2500 unidentified people from about 25 populations around the world will be sequenced using next-generation sequencing technologies. The results of the study will be freely and publicly accessible to researchers worldwide. Further information about the project is available in the About tab. Information about downloading, browsing or using the 1000 Genomes data is available in the Data tab.

Even if you feel like you have a pretty good hold on what deoxyribonucleic acid is and how it works, you will still appreciate this video. It might not add greatly to your depth of understanding, but it will please your eyes, tickle your brain, and remind you about the many wonders of the double helix.

Resources for DNA microarrays, synthetic biology, and NextGen sequencing from Davidson College.

webpage tutorials with check for understanding

Genome Sciences Education Outreach at the University of Washington in Seattle develops innovative programs that bring leading-edge science to teachers and students in K-12 schools.

The Department of Genome Sciences at the University of Washington in Seattle develops innovative programs that bring leading-edge science to teachers and students in K-12 schools.

A Cornell study offers further proof that the divergence of humans from chimpanzees some 4 million to 6 million years ago was profoundly influenced by mutations to DNA sequences that play roles in turning genes on and off.

Quick look: In its modern sense, epigenetics is the term used to describe inheritance by mechanisms other than through the DNA sequence of genes. It can apply to characteristics passed from a cell to its daughter cells in cell division and to traits of a whole organism. It works through chemical tags added to chromosomes that in effect switch genes on or off.

Epigenetics refers to heritable changes in gene expression caused by non-genetic mechanisms, thus by alterations other than in the DNA sequence. Epigenetic changes can persist throughout an organism's lifetime and be passed on to multiple generations. Site offers 4 part "crash course" in epigenetics

The study by researchers from the Wellcome Trust Sanger Institute and collaborators at La Trobe University in Melbourne and several other Australian institutes, challenges a previous theory that suggested an influx of people from India into Australia around 4-5 thousand years ago. This new DNA sequencing study focused on the Y chromosome, which is transmitted only from father to son, and found no support for such a prehistoric migration. The results instead show a long and independent genetic history in Australia.

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.

"This modular case study tells the story of Dan and Annie, a married couple of Acadian ancestry who have a genetic form of deafblindness called Usher syndrome. They live in Southwest Louisiana, home of the largest population of DeafBlind citizens in the United States. Acadian Usher syndrome is caused by an allele of the USH1C gene that came to Louisiana with the first Acadian settlers from Canada who founded today's Cajun population. This allele's single nucleotide substitution creates an erroneous splice site that produces a defective cytoskeletal protein (harmonin) of the cochlear and vestibular hair cells and retinal photoreceptors. This splice site is the target of a promising gene therapy. The case study applies and connects Mendelian inheritance, chromosomes, cell division, vision and hearing, DNA sequences, gene expression, gene therapy and population genetics to a specific gene and its movement through generations of Dan and Annie's families.  After the introduction, each of the remaining sections can be used independently either for in-class team activities or out-of-class extensions or assignments over an entire year of introductory undergraduate biology. "

Hilary Brown is a PhD student, working in the infection genomics group at the Wellcome Trust Sanger Institute. In this film he describes how to work safely in the lab with bacteria from the human gut including culturing them on agar plates and extracting the DNA for genome sequencing. The infection genomics programme uses a variety of different research approaches to study the biology and evolution of disease-causing organisms such as viruses, bacteria and parasites and understand how they cause disease in humans and other animals.

This directed case study examines the molecular basis of cystic fibrosis to emphasize the relationship between the genetic code stored in a DNA sequence and the encoded protein's structure and function. Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein that functions to help maintain salt and water balance along the surface of the lung and gastrointestinal tract. This case introduces students to "Maggie," who has just been diagnosed with cystic fibrosis. The students must identify the mutation causing Maggie's disease by transcribing and translating a portion of the wildtype and mutated CFTR gene. Students then compare the three-dimensional structures of the resulting proteins to better understand the effect a single amino acid mutation can have on the overall shape of a protein. Students also review the concepts of tonicity and osmosis to examine how the defective CFTR protein leads to an increase in the viscosity of mucus in cystic fibrosis patients. This case was developed for use in an introductory college-level biology course but could also be adapted for use in an upper-level cell or molecular biology course.

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

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.