1. Explore - Genetic Diseases: Challenges and Solutions
In this section, students build foundational knowledge about genetic diseases, their causes, and the challenges involved in diagnosing and treating them. This section introduces essential concepts from genetics, molecular biology, and biotechnology, preparing learners for later activities such as AR visualization, modeling, and ethical discussions about emerging medical solutions.
1.2 Types of Genetic Mutations
Genetic mutations differ in scale and impact, but all can disrupt how proteins are produced or function.
| Mutation Type | Description | Example Disease |
| Point mutation | Single nucleotide change | Sickle cell (GAG→GTG) |
| Insertion/Deletion | Added/removed nucleotides | Cystic fibrosis (3bp ΔF508) |
| Trinucleotide repeat | CAG expansion | Huntington's disease |
| Chromosomal | Aneuploidy, translocation | Down syndrome (trisomy 21) |
These mutations may result in proteins that are non-functional, partially functional, or harmful to cells.