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Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy through the sequencing of 100,000 genomes: the 100,000 Genomes Project.

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.

This directed case study was developed in order to present genomic data to students, allow them to interpret the impact of genetic variations on phenotype, and to explore precision medicine. Students are introduced to "Josie," a college sophomore who decides to have her genome sequenced after learning about genome-wide association studies (GWAS) in class. As students work  through the case, they learn about the different technologies that can be used in GWAS studies and interpret Josie's results for a subset of genetic markers that affect a range of traits from pharmacogenetics to disease risk alleles and non-pathogenic traits. Students are confronted with ethical issues such as duty to inform, actionable results, and variants of unknown significance (VUS). Students are also asked to reflect on their feelings about getting genomic testing for themselves. An optional activity for advanced students (included in the teaching notes) involves using the Gene database at NCBI to explore variants of the CYP2C9 gene. The case study is appropriate for use in undergraduate genetics or molecular biology classrooms.

In this lesson, students explore some of the risks and benefits of gene-based medicine. They look at concerns related to genetic testing (which looks for particular genetic variations) and personal genome sequencing (which sequences the entire genome of an individual). Through videos and discussions, students learn about existing technologies for genetic testing and therapies. They also explore matters such as the emotional consequences of genetic testing, discrimination, and privacy issues. In small groups, students discuss scenarios and then share and analyze related opinions and concerns.

or more than a decade scientists have been saying that a genomic revolution will transform medicine, making it possible to scan all of a person's DNA to predict risk and customize medical care. Well, we've got the machines. Where's the revolution? Getting closer, say researchers at Stanford University, who tested the technology on 12 people. But not quite ready for every doctor's office.

More than 400 scientists, bioethicists, and historians from 20 countries on 6 continents have gathered this week in Washington, DC, for the Human Gene Editing Summit. The attendees are a veritable who's who of genome editing: Jennifer Doudna of the University of California, Berkeley, Emmanuelle Charpentier of Max Planck Institute for Infection Biology, and Feng Zhang of the Broad Institute of MIT and Harvard-the three discoverers of the CRISPR-Cas9 system's utility in gene editing-plus dozens of other big names in genome science. Cal Tech's David Baltimore along with the heads of the four national societies hosting the meeting (US National Academy of Sciences, US National Academy of Medicine, Chinese Academy of Sciences, and the U.K.'s Royal Society) provided opening remarks on Tuesday (December 1). And as I sat stage right in the NAS auditorium, I noticed the unmistakable rear profile of Harvard Medical School's George Church three rows in front of me. Church was scheduled to speak at a session later that afternoon about the application of CRISPR and other new precision gene editing techniques to the human germline-a hot-button topic since April, when a Chinese group published it had successfully modified the genomes of human embryos, and the National Institutes of Health (NIH) said it would not fund such research. Then in September, the U.S./U.K.-based Hinxton Group, an international consortium of scientists, policy experts, and bioethicists, said it supported the use of genetic editing in human embryos for limited applications in research and medicine.  

This two-hour special, hosted by ABC "Nightline" correspondent Robert Krulwich, chronicles the fiercely competitive race to capture one of the biggest scientific prizes ever: the complete letter-by-letter sequence of genetic information that defines human life-the human genome. NOVA tells the story of the genome triumph and its profound implications for medicine and human health.

DNA is an interactive Web site where students can learn about DNA and its structure and function, the scientific history of its discovery and its development into a powerful tool in biology, technology, and medicine, and about the Human Genome Project, genetic engineering, and some of the implications and ethical issues surrounding genetic technology.

In the 2013 Holiday Lectures on Science, Charles L. Sawyers of Memorial Sloan-Kettering Cancer Center and Christopher A. Walsh of Boston Children's Hospital will reveal the breathtaking pace of discoveries into the genetic causes of various types of cancers and diseases of the nervous system, and discuss the impact of those discoveries on our understanding of normal human development and disease.

This interactive case discussion was created to emphasize the clinical relevance of population genetics, but is also a suitable resource for teaching the basic principles of population genetics while relating them to human genetic variation. Our understanding of human genetic variation has deepened over the past decade due to fine-scale genome mapping. Applying this knowledge to the evaluation of ancestry-based genetic testing strategies, such as direct-to-consumer genetic testing, is an important component of the practice of culturally-competent medicine and a relevant way to teach the foundations of population genetics, including Hardy-Weinberg equilibrium.

Pharmacogenomics can play an important role in identifying responders and non-responders to medications, avoiding adverse events, and optimizing drug dose. Drug labeling may contain information on genomic biomarkers and can describe: Drug exposure and clinical response variability Risk for adverse events Genotype-specific dosing Mechanisms of drug action Polymorphic drug target and disposition genes The table below lists FDA-approved drugs with pharmacogenomic information in their labeling. The labeling for some, but not all, of the products includes specific actions to be taken based on the biomarker information. Pharmacogenomic information can appear in different sections of the labeling depending on the actions. For more information, please refer to the appropriate labeling guidance.

Articles on personalized medicine for a socratice discussion

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.

About GeneCards®: GeneCards is a searchable, integrated database of human genes that provides comprehensive, updated, and user-friendly information on all known and predicted human genes. GeneCards extracts and integrates gene-related data, including genomic, transcriptomic, proteomic, genetic, clinical, and functional information. This is automatically mined from >100 carefully selected web sources, thereby allowing one-stop access to a very broad information base. GeneCards overcomes barriers of data format and heterogeneity, and uses standard nomenclature and approved gene symbols. It presents a rich subset of data for each gene, and provides deep links to the original sources for further scrutiny. GeneCards is widely used, and assists in the understanding of gene-related aspects of biology and medicine.

The early stages of embryonic development shape our cells and tissues for life. It is during this time that our newly formed cells are transformed into heart, skin, nerve or other cell types. Scientists are finding that this process is largely controlled not by the genome, but by the epigenome, chemical markers on DNA that tell cells when to turn genes on and off. Now, studying zebrafish embryos, researchers at Washington University School of Medicine in St. Louis have shown that the epigenome plays a significant part in guiding development in the first 24 hours after fertilization.

She says people became much more willing to talk about their genetic predispositions and seek out testing for conditions like Alzheimer's disease and cystic fibrosis. The number of patients seeking genetic counseling and testing has increased dramatically, according to a 2014 study that looked at how Jolie's announcement affected interest in testing. But the number of genetic counselors, the people who help both doctors and patients make sense of these tests, hasn't expanded enough to keep up with that demand. There are just 4,000 certified genetic counselors in the country today. That's one for every 80,000 Americans.

By then, researchers had identified three genetic mutations that can be inherited and, if they are, cause a form of Alzheimer's called early onset because it strikes before age 65 and sometimes far earlier. Since 2004, Hornstein and all five of her siblings have been tested. Hornstein is the only one who doesn't carry PSEN1, one of the mutations.

Vanderbilt-Ingram Cancer Center has become the first cancer center in the Southeast and one of the first in the nation to offer adult cancer patients routine "genotyping" of their tumors at the DNA level.

wide array of interactives, suitable for homework, remediation or interactive stations