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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.

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.

This interrupted case is based on a genome wide association study (GWAS) that identified the genetic variation causing some inhabitants of the Solomon Islands to have blond hair. The case illustrates the connection between genotype and phenotype, and an application of Hardy-Weinberg equilibrium. The narrative focusses on John and his new roommate, Peter, from the Solomon Islands who happens to have dark skin and blond hair. Using thought-provoking questions students learn about the genetics and the biochemistry of the hair color trait and how a single genetic variation can influence phenotype. Is migration or mutation involved?  Upon completion of the activity students will know the source of the genetic variation that causes the blond hair phenomenon in the Solomon Islands and if it has any European origins. The case was written for an upper-level genetics course, but could also be adapted for introductory biology or for a genetics course for non-majors. An optional PowerPoint presentation with clicker questions is available for download from within the Answer Key.

Researchers have made dramatic inroads into the study of polygenic and other complex human diseases, due in large part to knowledge of the human genome sequence, the generation of widespread markers of genetic variation, and the development of new technologies that allow investigators to associate disease phenotypes with genetic loci. Although polygenic diseases are more common than single-gene disorders, studies of monogenic diseases provide an invaluable opportunity to learn about underlying molecular mechanisms, thereby contributing a great deal to our understanding of all forms of genetic disease.

In the animal kingdom, humans are known for our big brains. But not all brains are created equal, and now we have new clues as to why that is. Researchers have uncovered eight genetic variations that help determine the size of key brain regions. These variants may represent "the genetic essence of humanity," says Stephan Sanders, a geneticist and pediatrician at the University of California, San Francisco, who was not involved in the study. These results are among the first to come out of the ENIGMA (Enhancing Neuro Imaging Genetics through Meta-Analysis) collaboration, involving some 300 scientists from 33 countries. They contributed MRI scans of more than 30,000 people, along with genetic and other information, most of which had been collected for other reasons. "This paper represents a herculean effort," Sanders says.

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 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.

NIH Genetic Variation Activity- Are you susceptible? Dice rolling game to model cardiovascular risk. -pdf for handouts

There are a significant number of genetics curriculum resources designed by different companies, curriculum development outlets, state curriculum designers and individual teachers. What resources are good? How do you know? As part of the Geneticist-Educator Network of Alliances (GENA) Project, a Curriculum Content Review Committee was formed to review readily available classroom resources about patterns of inheritance. Click here to see original evaluation form used by the committee and here to see the summary of the committee's review.

The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain desired gene mutations by using the following processes: targeted mutations that eliminate function in the whole organism or in a specific tissue; forward genetic screens using chemicals or transposons; or the introduction of exogenous transgenes as DNAs, bacterial artificial chromosomes (BACs) or reporter constructs. The mouse is the only mammal that provides such a rich resource of genetic diversity coupled with the potential for extensive genome manipulation, and is therefore a powerful application for modeling human disease.

The Hardy-Weinberg equation is a relatively simple mathematical equation that describes a very important principle of population genetics: the amount of genetic variation in a population will remain the same from generation to generation unless there are factors driving the frequencies of certain alleles (genetic variants) to change.

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.

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

Mutations and genetic variation

Genetics Drop Box curricular unit

NIH module on Sickle cell anemia.  A bit dated but provides a nice visual on sickling

Researchers in a new study at the University of Edinburgh have honed in on five of 89 independent variations in human genetics that are believed to be responsible for autoimmune conditions, from celiac disease and multiple sclerosis to rheumatoid arthritis and asthma. Understanding how these mechanisms work could help scientists to develop new treatments. The team found that a mutation in the ADAR1 gene causes a defect in an "alarm system" in cells that normally protects the body from viruses and other infections by triggering the body's immune system to fight.

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.

Pharmacogenomics holds the promise that drugs might one day be tailored to your genetic makeup. By Mayo Clinic Staff Modern medications save millions of lives a year. Yet any one medication might not work for you, even if it works for other people. Or it might cause severe side effects for you but not for someone else. Your age, lifestyle and health all influence your response to medications. But so do your genes. Scientists are working to match specific gene variations with responses to particular medications.

Why did you get the flu this winter, but your co-workers didn't? The answer, according to a new study of twins, may have less to do with your genes and more to do with your environment-including your past exposure to pathogens and vaccines. Our immune system is incredibly complex, with diverse armies of white blood cells and signal-sending proteins coursing through our veins, ready to mount an attack on would-be invaders. Everyone's immune system is slightly different-a unique mixture of hundreds of these cells and proteins. But the main driver of this variation is unclear. Although scientists know that our immune system can adapt to our environment-that's why vaccines work, for instance-it is also built by our genes.