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

Hans Rosling unveils data visuals that untangle the complex risk factors of one of the world's deadliest (and most misunderstood) diseases: HIV. By following the data, he suggests a surprising key to ending the epidemic.

In July, the AP reported that its first round of tests showed disease-causing viruses directly linked to human sewage at levels up to 1.7 million times what would be considered highly alarming in the U.S. or Europe. Experts said athletes were competing in the viral equivalent of raw sewage and exposure to dangerous health risks almost certain. The results sent shockwaves through the global athletic community, with sports officials pledging to do their own viral testing to ensure the waters were safe for competition in next year's games. Those promises took on further urgency in August, after pre-Olympic rowing and sailing events in Rio led to illnesses among athletes nearly double the acceptable limit in the U.S. for swimmers in recreational waters.

This directed case study follows the story of "Pauline," a 20-year-old college student who has just received results from a personal genetic testing kit she purchased online. The report shows a negative result for variants of the BRCA 1 and 2 genes, which are associated with a greater risk for breast cancer. Although Pauline has a family history of breast cancer, she concludes that she no longer needs to be concerned, or does she? As students work through the questions in this case study, they review the role of genes and how they code for proteins as well as the effects of proteins on health, especially on cellular growth regulation and cancer. They also learn about the process of genetic testing and consider the ramifications of positive and negative tests for diseases or health conditions, especially with respect to breast cancer. The case is designed for non-science majors in a scientific methods course and could also be used in an introductory biology course. The questions in the case could be adapted for an upper level genetics class.

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.

Researchers at the University of Melbourne in Australia followed 144 older people who had mild cognitive impairment for seven years. To gauge how much iron was in their brains, they measured ferritin, a protein that binds to the metal, in their cerebrospinal fluid. For every nanogram per millilitre people had at the start of the study, they were diagnosed with Alzheimer's on average three months earlier. The team also found that the biggest risk gene for Alzheimer's, ApoE4, was strongly linked with higher iron, suggesting this is why carrying the gene makes you more vulnerable.

Blood type may affect brain function as we age, according to a new large, long-term study. People with the rare AB blood type, present in less than 10 percent of the population, have a higher than usual risk of cognitive problems as they age.