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.
Learn to use Online Mendelian Inheritance in Man®, or OMIM®, a catalog of human genes and genetic conditions. OMIM is a foundational resource in genomics and is valuable for clinicians and biomedical researchers. OMIM links and data are found at sites all around the bioinformatics sphere, but understanding the full scope of OMIM's data and resources enable the most comprehensive understanding of human phenotypes and disease. OMIM contains full-text summaries of information from the scientific literature, and provides extensive links to the literature resources and other genomic resource tools as well. Use OMIM as a comprehensive first stop to find important information and gene links for human Mendelian disorders.
This lesson, using segments from the PBS series Faces of America, explores the various types of genetic information contained in the human genome. The Introductory Activity examines the structure and composition of chromosomes and DNA, and can be used as a review or introduction to the topic. Following that, students will participate in a hands-on activity reviewing basic Mendelian genetics and the difference between genotype and phenotype. Students will also learn about different ways of tracing ancestry through DNA, and apply that to patterns of human migration and genetic population sets known as haplogroups. In the Culminating Activity, students will develop methods for determining the genetic heritage of their class, school, or community.
A cornerstone of modern biomedical research is the use of mouse models to explore basic pathophysiological mechanisms, evaluate new therapeutic approaches, and make go or no-go decisions to carry new drug candidates forward into clinical trials. Systematic studies evaluating how well murine models mimic human inflammatory diseases are nonexistent. Here, we show that, although acute inflammatory stresses from different etiologies result in highly similar genomic responses in humans, the responses in corresponding mouse models correlate poorly with the human conditions and also, one another.
This video excerpt from NOVA uncovers the genetic mystery that nearly killed Alexis, now 14, and introduces the debate surrounding genetic testing at birth. After diagnosing Alexis and her twin brother Noah with cerebral palsy at a young age, doctors later discovered that the twins shared a rare genetic mutation that led to a condition that mimics cerebral palsy. The twins improved after receiving treatment, but then Alexis took a turn for the worse. Thanks to whole genome sequencing, doctors discovered a second problem linked to the mutation and gave her a different treatment that saved her life.
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.
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.
At about 3 billion letters long, reading and finding anything meaningful in the human genome is a daunting task. But that's just what genome researchers do. This interactive feature provides a microscopic view of some of what they've found on our 24 chromosomes, including the locations of about 200 different genes, especially those that have been associated with disease.
Our genomes are riddled with the detritus of ancient viruses. They infected our hominid ancestors tens of millions of years ago, inserting their genes into the DNA of their hosts.
Today, we carry about 100,000 genetic remnants of this invasion. So-called endogenous retroviruses make up 8 percent of the human genome.
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.
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 .
The fates of ice age human groups in Europe were closely linked to climate change, according to an unprecedented study of the genomes of 51 individuals who lived between 45,000 years ago (when modern humans arrived in Europe) and 7,000 years ago.
"We see multiple, huge movements of people displacing previous ones," David Reich of the Harvard Medical School said. "During this first four-fifths of modern human history in Europe, history is just as complicated as it is during the last fifth that we know so much more about."