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Genetic diseases
Benjamin Vion
Created on March 29, 2025
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What's inside? Why should you do it?
Genetic Disorders Word Games Magazine
Play the game!
We will show you information on a patient of a genetic disorder
Your objective is to memorize as much of the information as possible
We will then show you a table with information on many genetic disorders : you need to guess which one the patient has
What's the game?
What should I do?
But why?
THE RULES
Genetic Disorder Detective
ROUND 1
ARE YOU READY ?
π Patient Card
- Age: 8 years old
- Symptoms: Frequent lung infections, difficulty breathing
- Family History: Two older siblings, one is also affected
- Additional Clue: High salt levels in sweat
- Type: Autosomal recessive
- Gene involved: CFTR gene
- Symptoms: Defective chloride channels causing mucus buildup
π Mutation Card
π Chromosome Card
Guess the answer !
- Affected chromosome: Chromosome 7
- Mutation location: ΞF508 deletion
- Caused by a mutation in the CFTR gene
- Autosomal recessive disorder
- Leads to thick mucus buildup in the lungs and digestive system
- Treated with physiotherapy, medications, and lung transplants in severe cases
π₯ Correct ! Cystic Fibrosis
Try again...
ROUND 2
ARE YOU READY ?
π Patient Card
- Age: 6 years old
- Symptoms: Episodes of severe pain, fatigue, swollen hands and feet
- Family History: Both parents are carriers, one sibling is also affected
- Additional Clue: Low red blood cell count (anemia)
- Type: Autosomal recessive
- Gene involved: HBB gene
- Symptoms: Abnormal hemoglobin causing red blood cells to become sickle-shaped, leading to blockages in blood vessels, pain crises, and anemia
π Mutation Card
π Chromosome Card
Guess the answer !
- Affected chromosome: Chromosome 11
- Mutation location: Single nucleotide mutation (Glu6Val) in the Ξ²-globin gene
Try again...
- Caused by a mutation in the HBB gene
- Autosomal recessive disorder
- Leads to sickle-shaped red blood cells, causing blockages, pain crises, and anemia
- Treated with pain management, blood transfusions, and bone marrow transplants in severe cases