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Genetic diseases

Benjamin Vion

Created on March 29, 2025

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Transcript

Genetic Disorders Word Games Magazine

What's inside? Why should you do it?

Play the game!

Genetic Disorder Detective

THE RULES

What should I do?

What's the game?

But why?

We will then show you a table with information on many genetic disorders : you need to guess which one the patient has

Your objective is to memorize as much of the information as possible

We will show you information on a patient of a genetic disorder

ARE YOU READY ?

ROUND 1

🃏 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

🃏 Mutation Card

  • Type: Autosomal recessive
  • Gene involved: CFTR gene
  • Symptoms: Defective chloride channels causing mucus buildup

🃏 Chromosome Card

  • Affected chromosome: Chromosome 7
  • Mutation location: ΔF508 deletion

Guess the answer !

🏥 Correct ! Cystic Fibrosis

  • 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

Try again...

ARE YOU READY ?

ROUND 2

🃏 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)

🃏 Mutation Card

  • 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

🃏 Chromosome Card

  • Affected chromosome: Chromosome 11
  • Mutation location: Single nucleotide mutation (Glu6Val) in the β-globin gene

Guess the answer !

Try again...

🏥 Correct !Sickle Cell Anemia

  • 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

Thank you for playing!

Don't forget to do all the games in our magazine ; we will provide you with the answers after the holidays