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This directed case study examines the molecular basis of cystic fibrosis to emphasize the relationship between the genetic code stored in a DNA sequence and the encoded protein's structure and function. Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein that functions to help maintain salt and water balance along the surface of the lung and gastrointestinal tract. This case introduces students to "Maggie," who has just been diagnosed with cystic fibrosis. The students must identify the mutation causing Maggie's disease by transcribing and translating a portion of the wildtype and mutated CFTR gene. Students then compare the three-dimensional structures of the resulting proteins to better understand the effect a single amino acid mutation can have on the overall shape of a protein. Students also review the concepts of tonicity and osmosis to examine how the defective CFTR protein leads to an increase in the viscosity of mucus in cystic fibrosis patients. This case was developed for use in an introductory college-level biology course but could also be adapted for use in an upper-level cell or molecular biology course.

This video excerpt from NOVA examines the promise and realities of developing drugs designed to treat genetic disorders. The video presents the story of one patient, Michael McCarrick, whose lungs were devastated from years of suffering from cystic fibrosis. After researchers identified the gene involved in cystic fibrosis, it took decades to find ways to fortify the faulty protein responsible for the serious illness. While two drugs, including one called Kalydeco, offer a small number of patients hope that they will not have to endure a lung transplant, it may be years and several hundred million more development dollars before effective drugs are available for a wider population.

This PowerPoint-driven, flipped case study begins with a short video about a woman suffering from cystic fibrosis (CF) in the 1970s, a friend of the lead author's, whom she met in college and who died in her twenties. Hooked by this personal story, students then delve into the genetics and biology of cystic fibrosis as they learn about the difference between dominant and recessive genes, make Punnett squares that depict various types of inheritance, distinguish between probability and actual numbers, differentiate types of mutations, and learn about the opportunistic infections that CF patients often succumb to.  Students conclude the case by watching two additional videos on chest compression machines and the contemporary life expectancy of patients with CF.  In addition to the scientific content presented in the case, it is hoped that students will empathize with, and be motivated by, the young people presented in the videos as they struggle with a very real, incurable disease deeply rooted in genetics.

Approximately half the patients have received all the 12 doses of gene therapy or placebo given at monthly intervals. The remaining will be completing their dosing over the next few months, with the final dose in the final patient due around June.

This case study follows a young cystic fibrosis (CF) patient named Lucas. Through Lucas's story and interactions between his parents and pediatrician, students learn about the scientific background and basis of CF. By reviewing email correspondence between Lucas's parents and various doctors, students gain an overview of CF research. CF has become a model disease in certain undergraduate biology classrooms due to its relatively clear mechanism and genetic basis. This case asks students to come up with their own ideas to improve on an existing line of research - gene therapy - in treating CF. During the process, students will gain a better appreciation of the innovative nature of science and develop research skills such as finding, understanding and analyzing primary literature. The activity was originally designed for first- and second-year students as part of an extracurricular case competition, but may be used for any undergraduate biology level. The case assumes basic (high school level) knowledge of genetics, biochemistry, cell biology and physiology.

She says people became much more willing to talk about their genetic predispositions and seek out testing for conditions like Alzheimer's disease and cystic fibrosis. The number of patients seeking genetic counseling and testing has increased dramatically, according to a 2014 study that looked at how Jolie's announcement affected interest in testing. But the number of genetic counselors, the people who help both doctors and patients make sense of these tests, hasn't expanded enough to keep up with that demand. There are just 4,000 certified genetic counselors in the country today. That's one for every 80,000 Americans.

CRISPR still has a long way to go before it can be used safely and effectively to repair-not just disrupt-genes in people. That is particularly true for most diseases, such as muscular dystrophy and cystic fibrosis, which require correcting genes in a living person because if the cells were first removed and repaired then put back, too few would survive. And the need to treat cells inside the body means gene editing faces many of the same delivery challenges as gene transfer-researchers must devise efficient ways to get a working CRISPR into specific tissues in a person, for example. CRISPR also poses its own safety risks. Most often mentioned is that the Cas9 enzyme that CRISPR uses to cleave DNA at a specific location could also make cuts where it's not intended to, potentially causing cancer.

Lesson with comprehensive links to genetic disorders

his resource describes an inquiry-based, in-class exercise designed for students working in small groups. It is designed to review and enrich student understanding of probability, how probabilities of individual events can be combined to make predictions about more complex outcomes, and how observed data can be compared to a null model based on probabilities using a chi-squared test. These skills are used extensively for classical genetic analysis. Throughout the activity, peers and instructors guide students through the process of developing and solving problems using probabilities and chi-squared tests in small groups.

Find out how researchers identify genetic diseases and determine possible treatments. short film, genes as medicine click and learn, central dogma scientists at work, the search for a mutated gene central dogma card activity animation, CF mechanism and treatment click and learn. CRISPR-Cas9