Group items tagged

Autism is rooted in genetics, including the mutation of certain genes that result in a failure of neurons in the brain to properly connect. Based on earlier genetic research funded by Autism Speaks, such as the Autism Genome Project (AGP), scientists have discovered some of these genes. But much more gene discovery needs to take place. The Autism Genome 10K Project will mark a substantial leap forward on this journey. The Autism Genome 10K Project builds on the successes of Autism Speaks' Autism Genetic Resource Exchange program (AGRE), a high-quality collection of more than 12,000 DNA samples from families affected by autism. The AGRE program has facilitated many high-impact scientific discoveries in recent years, including the risk genes discovered by the AGP and other researchers. With BGI sequencing the full complement of 10,000 samples collected by AGRE and collaborators in China, Autism Genome 10K leverages BGI's cutting-edge expertise and globally unrivaled capacity for high-quality genome sequencing.

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.

Your genome, every human's genome, consists of a unique DNA sequence of A's, T's, C's and G's that tell your cells how to operate. Thanks to technological advances, scientists are now able to know the sequence of letters that makes up an individual genome relatively quickly and inexpensively. Mark J. Kiel takes an in-depth look at the science behind the sequence.

Genomics resources for teachers, from state of Michigan. This website includes three main sections: Family History- which looks into genomics at the organism level Multifactorial Traits- which looks into genomics at the cellular and gene level Genetic Variation- which looks into genomics at the molecular level

The Human Genome Project (HGP) was one of the great feats of exploration in history - an inward voyage of discovery rather than an outward exploration of the planet or the cosmos; an international research effort to sequence and map all of the genes - together known as the genome - of members of our species, Homo sapiens. Completed in April 2003, the HGP gave us the ability, for the first time, to read nature's complete genetic blueprint for building a human being.

Genetic studies of human disease are more challenging to perform in sub-Saharan Africa because genetic diversity is greater than in other populations. This pilot will increase our understanding of African genome variation and enable the design of large-scale genetic association studies in the region. Studies into the genetic basis of disease in European populations have made major advances in the past few years, yet similar studies in sub-Saharan Africa have been slower to develop. The high level of genetic diversity that exists in populations from sub-Saharan Africa makes genetic associations with disease more difficult to identify. The African Genome Variation Project aims to collect essential information about the structure of African genomes to provide a basic framework for genetic disease studies in Africa.

On June 14, 2013, the Smithsonian Institution in Washington, D.C. opened the high-tech, high-intensity exhibition Genome: Unlocking Life's Code to celebrate the 10th anniversary of researchers producing the first complete human genome sequence - the genetic blueprint of the human body - in April 2003. The exhibition is a collaboration between the Smithsonian's National Museum of Natural History (NMNH) and the National Human Genome Research Institute (NHGRI) of the National Institutes of Health.

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.

The Genome Institute (TGI) is a world leader in the fast-paced, constantly changing field of genomics. A truly unique institution, we are pushing the limits of academic research by creating, testing, and implementing new approaches to the study of biology with the goal of understanding human health and disease, as well as evolution and the biology of other organisms.

Inthis lesson students will enter the world of the genome, learning about humanhistory and evolution by examining information about human, Neanderthal, andchimpanzee DNA. Using web interactives and videosfrom The Human Spark, studentswill be introduced to the ambitious Human Genome Project, learn about thegenetic similarities and differences between human beings and our hominidancestors, explore how specific genes manifest themselves in differentorganisms, and discover how genetic information can help us trace a path ofhuman migration all the way back to our earliest ancestors.

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.

This video segment adapted from NOVA scienceNOW examines the realm of personal DNA testing. It describes the latest tests, which look for single-nucleotide polymorphisms (SNPs). These single-letter differences in DNA sequence make humans unique from one another but may also predispose people to certain diseases. The video also discusses the Personal Genome Project, an extension of the Human Genome Project aimed at determining the root causes of many common diseases. The Personal Genome Project takes into account personal genomics as well as lifestyle information, such as one's living environment, habits, and behaviors.

Your genome, every human's genome, consists of a unique DNA sequence of A's, T's, C's and G's that tell your cells how to operate. Thanks to technological advances, scientists are now able to know the sequence of letters that makes up an individual genome relatively quickly and inexpensively. Mark J. Kiel takes an in-depth look at the science behind the sequence.

Educational materials about genetics and genomics

4:40 video overview of Mendel, Watson and Crick, Human Genome Project, and genomic research.

In this video segment from NOVA: "Cracking the Code of Life," Eric Lander of MIT's Whitehead Institute explains the effort to decode the human genome -- from motivation to process to importance -- and explains what a genome map can do for science and what it can't -- yet.

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.

The most recent human retroviral infections leading to germ line integration took place with a subgroup of human endogenous retroviruses called HERVK(HML-2). The human genome contains ~90 copies of these viral genomes, which might have infected human ancestors as recently as 200,000 years ago. HERVs do not produce infectious virus: not only is the viral genome silenced - no mRNAs are produced - but they are littered with lethal mutations that have accumulated over time. A recent study revealed that HERVK mRNAs are produced during normal human embryogenesis. Viral RNAs were detected beginning at the 8-cell stage, through epiblast cells in preimplantation embryos, until formation of embryonic stem cells (illustrated). At this point the production of HERVK mRNA ceases. Viral capsid protein was detected in blastocysts, and electron microscopy revealed the presence of virus-like particles similar to those found in reconstructed HERVK particles. These results indicate that retroviral proteins and particles are present during human development, up until implantation.

Genetic differences among ethnically diverse individuals are largely due to structural elements called copy number variants (CNVs), according to a study published today (August 6) in Science. Compared with other genomic features, such as single nucleotide variants (SNVs), CNVs have not previously been studied in as much detail because they are more difficult to sequence. Covering 125 distinct human populations around the world, geneticist Evan Eichler at the University of Washington in Seattle and an international team of colleagues studied the genomes of 236 people-analyzing both SNVs and CNVs. "The take-home message is that we continue to find a lot more genetic variation between humans than we appreciated previously," Eichler told The Scientist.