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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.

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.

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.

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.

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.  

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.

Quintana-Murci and his colleagues also took advantage of a previously published map of areas of the human genome where Neanderthal genes are present, showing that innate immune genes are generally more likely to have been borrowed from Neanderthals than genes coding other types of proteins. Specifically, they noted that 126 innate immune genes in present-day Europeans, Asians, or both groups were among the top 5 percent of genes in the genome of each population most likely to have originated in Neanderthals. The cluster of toll-like receptor genes, encoding TLR 1, TLR 6, and TLR 10, both showed signs of having been borrowed from Neanderthals and having picked up adaptive mutations at various points in history. Meanwhile, a group led by Janet Kelso of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, used both the same previously published Neanderthal introgression map that Quintana-Murci used and a second introgression map. The researchers searched for borrowed regions of the genome that were especially long and common in present-day humans, eventually zeroing in TLR6, TLR10, and TLR1. These receptors, which detect conserved microbial proteins such as flagellin, are all encoded along the same segment of DNA on chromosome four.

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.

A dynamic 3D computer animated video takes you "inside" for a close-up look at how we're made. Watch as the mysteries of the Human Genome are literally "unraveled." 3D modeling and animation created by Bill Baker, Bakedmedia, Inc. and Mike Fisher for the National Human Genome Research Institute.

This animation depicts the CRISPR-Cas9 method for genome editing - a powerful new technology with many applications in biomedical research, including the potential to treat human genetic disease. Feng Zhang, a leader in the development of this technology, is a faculty member at MIT, an investigator at the McGovern Institute for Brain Research, and a core member of the Broad Institute. Further information can be found on Prof. Zhang's website at http://zlab.mit.edu .

This directed case study was developed to introduce students to the CRISPR-Cas9 system for genome editing. CRISPR-Cas9 has made numerous headlines in both the scientific and popular press, and thus serves as an excellent model for learning current biotechnology and applying concepts from biology courses. After providing a general overview of CRISPR-Cas9, the majority of the case focuses on the clinical applications of the system as experienced by a carrier for the X-linked recessive allele underlying Duchenne Muscular Dystrophy. The case is structured so that students use a variety of popular and scientific sources (some of which may require a subscription to access-check with your institution), increasing in difficulty as they move through each part of the case. The goals are for students to learn the molecular mechanisms of CRISPR-Cas9, the benefits and limitations of the system, and the clinical applications of the technology. Open-ended questions are included to spark discussion of ethical considerations, societal impacts, and the overall implications of the technology.

A team of Indian biologists has demonstrated that a key component of the water buffalo genome can be manipulated to produce foreign proteins in the buffalo's milk (J. Biotechnol. 2015, DOI:10.1016/j.jbiotec.2015.02.001). The findings suggest the possibility of modifying the genetic material of water buffalo-that is, creating transgenic buffalo-to produce protein drugs, says team member Subeer S. Majumdar, of the National Institute of Immunology, in New Delhi.

The largest genome-wide association study to date, involving more than 300 institutions and more than 250,000 subjects, roughly doubles the number of known gene regions influencing height to more than 400. The study provides a better glimpse at the biology of height and offers a model for investigating traits and diseases caused by many common gene changes acting together.