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List of single gene traits in humans

Published on Sep 18, 2013 A short animation detailing how autosomal recessive inheritance works. A resource from the NHS National Genetics and Genomics Education Centre. http://www.geneticseducation.nhs.uk/

3 minute video Each father and mother pass down traits to their children, who inherit combinations of their dominant or recessive alleles. But how do we know so much about genetics today? Hortensia Jiménez Díaz explains how studying pea plants revealed why you may have blue eyes.

Sharmila Nikapota, the mother of a child with a rare genetic disorder, has high hopes for gene editing. "For us this technology holds the unimaginable dream of a cure," she says. Her 13-year-old daughter Sohana has spent her entire life covered in painful blisters, the result of a condition called recessive dystrophic epidermolysis bullosa.

This directed case study was developed to introduce students to the CRISPR-Cas9 system for genome editing. CRISPR-Cas9 has made numerous headlines in both the scientific and popular press, and thus serves as an excellent model for learning current biotechnology and applying concepts from biology courses. After providing a general overview of CRISPR-Cas9, the majority of the case focuses on the clinical applications of the system as experienced by a carrier for the X-linked recessive allele underlying Duchenne Muscular Dystrophy. The case is structured so that students use a variety of popular and scientific sources (some of which may require a subscription to access-check with your institution), increasing in difficulty as they move through each part of the case. The goals are for students to learn the molecular mechanisms of CRISPR-Cas9, the benefits and limitations of the system, and the clinical applications of the technology. Open-ended questions are included to spark discussion of ethical considerations, societal impacts, and the overall implications of the technology.

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.

Hereditary methemoglobinemia (met-H) is a human genetic disease that is inherited as an autosomal recessive.