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This case study is designed to teach basic concepts of genetics by focusing on a rare disease, pseudoxanthoma elasticum (PXE).  Chromosome 16 is the narrator at the beginning of the case and introduces students to genes, chromosomes and mutations. The focus then shifts to the patient and his mother as she finds out about her son's disease and her subsequent efforts to connect with patient advocacy groups for support. The case concludes with students watching a TED talk given by Sharon Terry, the real-life mother on whom this story is loosely based, so that students can connect on an emotional and human level with someone who has intimate experience as a parent of children with a rare genetic disease. The case is suitable for high school general biology classes, but it can also be used by biology major or non-major undergraduates in a lower-division biology class, or in any lower-division non-major class focused on human disease.

All living humans originated from populations of ancestors who migrated out of Africa less than 100,000 years ago. Learn how scientists have used genetic markers to trace the migration routes and origins of modern human populations.

Humans may in part owe their big brains to a DNA "typo" in their genetic code, research suggests. The mutation was also present in our evolutionary "cousins" - the Neanderthals and Denisovans. However, it is not found in humans' closest living relatives, the chimpanzees. As early humans evolved, they developed larger and more complex brains, which can process and store a lot of information. Last year, scientists pinpointed a human gene that they think was behind the expansion of a key brain region known as the neocortex.

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.

Chinese scientists say they've genetically modified human embryos for the very first time. The team attempted to modify the gene responsible for beta-thalassaemia, a potentially fatal blood disorder, using a gene-editing technique known as CRISPR/Cas9. Gene editing is a recently developed type of genetic engineering in which DNA is inserted, replaced, or removed. Here, experts weigh-in with ethical questions and considerations.

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.

Engaging list of 10 human genetic disorders (minimal information of structural mutations)

The article "The difference makers" (10.9 readability score) gives an overview of transposons, or "jumping genes," and how these bits of genetic material have affected genetic variety and evolution in humans and other organisms. Students can focus on details reported in the article, follow connections to earlier articles about transposons and human evolution, explore crosscurricular connections to other major science topics, and construct a phylogenetic tree of primate evolution based on the locations of retroviral sequence insertions in chromosome 21

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.

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.

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.

A decade ago, an international research team completed an ambitious effort to read the 3 billion letters of genetic information found in every human cell. The program, known as the Human Genome Project, provided the blueprint for human life, an achievement that has been compared to landing a man on the moon.

For at least 10,000 years, humans have been cultivating plants and selectively breeding them for fast growth, pest resistance, long-term survival in storage, and bigger and better fruit. We've been domesticating animals for just as long, selecting for traits that suited our needs, such as size, appearance, or even personality. For a few decades, we've also had genetic engineering methods for getting the characteristics we want in plants, animals, and microorganisms.

Human-engineered microbes are workhorses of the pharmaceutical and chemical industries, churning out biofuels, drugs, and many other products. But they can cause big problems if they become contaminated by other microbes or viruses or escape into the environment. Now, a new type of microbe that can survive only on artificial nutrients promises better security against such mishaps. The strategy, described in two papers in this week's issue of Nature, might ultimately be used to control genetically engineered plants or other organisms released into the wild to create products or clean up pollution.

The Aedes aegypti mosquito is the major vector for transmission of numerous viral diseases, including yellow fever, dengue, and now, Zika. Interestingly, different subspecies of A. aegypti are known to exist in close proximity but with considerable genetic divergence between them. One major difference between a "forest" form and a "domestic" form is a strong preference in the latter subspecies for human over non-human blood biting. This difference was explored with genetic and neurophysiological approaches by a research group at Rockefeller University and published in a 2014 paper in Nature. This flipped case study uses parts of the Nature paper to focus on elements of the scientific method as well as evolutionary questions raised by the difference in biting preference between the two subspecies. Students prepare for class by watching a video that provides background information about the published study that forms the basis for the case. In class students then work in groups to develop a hypothesis, predictions and proposed experiments to test the idea of different biting preferences.

Researchers led by Terra D. Barnes of Washington University discovered that their genetically-engineered mice stutter due to DNA defects in a humdrum "housekeeping" gene. This gene codes for a protein that simply places a "routing tag" on certain enzymes that shred cellular trash. The tag ensures that the shredding enzymes end up in chambers called lysosomes, basically the cell's garbage disposal. It's a mundane cellular activity, yet mutations in the same process in humans have also been linked to stuttering-a bizarrely specific condition for such a general gene. And, so far, scientists have no idea why the two are linked.

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.

Scientists have genetically engineered monkeys so that they exhibit behaviors similar to autism, with a goal of testing potential therapies on the animals in hopes that their resemblance to humans will yield more answers about the disorder. The scientists found that the monkeys showed "very similar behaviors related to human autism patients, including repetitive behaviors, increased anxiety and, most importantly, defects in social interactions," said Zilong Qiu, a leader of the research at the Institute of Neuroscience at the Chinese Academy of Sciences in Shanghai. The team is now imaging the brains of the monkeys, he said, "trying to identify the deficiency in the brain circuits that is responsible for the autism-like behavior."

Designer babies, the end of diseases, genetically modified humans that never age. Outrageous things that used to be science fiction are suddenly becoming reality. The only thing we know for sure is that things will change irreversibly.

Genetics Drop Box curricular unit