CYSTIC FIBROSIS

General Knowledge

100

What is Cystic Fibrosis 

autosomal recessive disorder

200

What is Cystic Fibrosis caused by? 

Mutations in the CFTR gene 

300

What is the CFTR protein responsbile for? 

For the movement of Cl- ions necessary for the regulation of mucus consistency in the lungs.

400

What is the common CFTR mutation? 

Deletion in ∆F508

500

How does the CFTR gene become mutated?

Nonsense, frameshift, or splicing mutations, are characterized by the introduction of a premature stop codon, leading to non functional CFTR protein or complete absence of CFTR production

Burden

100

What burden does Cystic Fibrosis have on individuals? 

Mental Health 

Marginalization 

Stigma

200

True or False: Is Cystic Fibrosis diagnosed early in life? later in life? or both? 

BOTH 

300

What are some of the symptoms of Cystic Fibrosis? 

• Persistent Cough ⟶ Sticky Mucus
• Frequent Infections ⟶ Chronic Bronchitis or Pneumonia 
• Wheezing Shortness of Breath 
• Chronic Sinus Infections 
• Nasal Congestion 
• Inflammation 
• Narrowed or Clogged Airways 
• Trouble Breathing 

400

What are some implications that COVID-19 had on individuals? 

 Clinical trials slowed down

 Fewer CF lung flare-ups due to masks, distancing, other protocols.

500

How can Estrogen affect patients with Cystic Fibrosis?

Increase airway inflammation

Affect immune response

Increase bacterial growth and persistence

Influence mucus thickness and airway environment

Future Research

100

What are some Health Inequalities of Cystic Fibrosis? 

• Survival improving in high-income countries (HICs)
• Social determinants (income, education, environment, healthcare access) affect outcomes

In HICs, Black and Hispanic patients often: Diagnosed later

• Have higher illness severity and mortality
• Less likely eligible for CFTR modulators

200

What rare disease is Cystic Fibrosis similar too?

Primary Ciliary Dyskinesia

300

What are the goals of pulmonary care?

• Reduce daily symptoms
• Prevent bronchiectasis
• Slow decline in lung function

400

What does poor bacteria clearance lead too? 

• Chronic infection 
• Ongoing inflammation 
• Structural damage of the lungs 
• Airways can become blocked and destroyed 

500

How can early research in infants benefit research? 

Newborn screening allows doctors to identify CF before symptoms appear

• Understand how Cf lung disease begins 
• See how infection and inflammation are related 
• Group patients based on CF mutation type 
• Follow disease progression over a lifetime 
• Start treatment before permanent lung damage

Policy & the environment

100

How does environmental factors contribute to Cystic Fibrosis? 

• Differences in lung disease severity
• Unique exposures account for most environmental effects

200

How can Multidisciplinary Care benefit those with Cystic Fibrosis? 

Reduce infection risk

Improve access to care

300

What are the Health Policy Trends? 

• Addressing Socioeconomic Disparities 
• Telemedicine 
• Diverse Clinical Trial Inclusion 

400

What were the genes therapies that help Cystic Fibrosis? 

Gene Correction 

Modulation of RNA 

Genome Editing 

500

What are the types of CFTR Modulators? 

Potentiators

Correctors 

Elexacaftor 

Management

100

What does each CFTR Modulators do? 

• Potentiators (e.g., ivcraftor) 
  • Increase how often CFTR channels open 
  • Work on CFTR already at the cell surface 
• Correctors (e.g., lumacraftor, texacaftor) 
  • Improve CFTR protein folding 
  • Help CFTR proten folding 
  • Help CFTR reach the cell surface 
• Elexacaftor 
  • Acts as both a corrector and potentiator 

200

What are the three foundations? 

Cystic Fibrosis Foundation 

Cystic Fibrosis Canada 

Emily's Entourage 

300

What year did precision medicine & CFTR modulators become known? 

2000s

400

Is Cystic Fibrosis in males and females the same? 

Yes 

500

How is Cystic Fibrosis and Primary Ciliary Dyskinesia similar? 

PCD 

• It damages cilia (tiny hair-like structures) that normally help clear mucus from the airways.
•  This leads to frequent and often severe respiratory infections

Cystic Fibrosis 

• Airway epithelial cells cannot move chloride ions  
• Thick mucus traps bacteria and blocks airways
• Results in to chronic respiratory infections