Video from TED-Ed on YouTube
3.3.2 Explain the genomic basis of disease with reference to cellular pathways, using examples such as sickle cell disease and cystic fibrosis.
Why this video
This video illustrates how a single point mutation alters hemoglobin structure to cause polymerisation, red blood cell deformation, and the clinical manifestations of sickle cell disease.
Part of this line
Covers part of this objective. It leaves out: It focuses exclusively on sickle cell disease, leaving out cystic fibrosis and the wider mechanisms of monogenic disease pathways.
Heads up
Designed for a general audience, it omits specific biochemical designations like the Glu6Val substitution and the detailed polymerisation kinetics emphasized in the course.
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