Simple Professional Genetics Of Cystic Fibrosis Slides.pptx
TakamSakter
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19 slides
Feb 25, 2025
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About This Presentation
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Size: 8.19 MB
Language: en
Added: Feb 25, 2025
Slides: 19 pages
Slide Content
GENETICS OF CYSTIC FIBROSIS Research & Future Overview Symptoms & Diagnosis Treatment Options Write a subtitle of this presentation here
TABLE OF CONTENTS 01 02 03 04 About Cystic Fibrosis Symptoms & Diagnosis Research & Future Treatment Options Research & Future Overview Symptoms & Diagnosis Treatment Options Lorem ipsum dolor sit amet, consectetur adipiscing elit. Lorem ipsum dolor sit amet, consectetur adipiscing elit. Lorem ipsum dolor sit amet, consectetur adipiscing elit. Lorem ipsum dolor sit amet, consectetur adipiscing elit.
ABOUT CYSTIC FIBROSIS Research & Future Overview Symptoms & Diagnosis Treatment Options Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua.
Research & Future Overview Symptoms & Diagnosis Treatment Options INTRODUCTION Definition of Cystic Fibrosis (CF) Prevalence and Importance Early symptoms and diagnosis Lorem ipsum dolor sit amet, consectetur adipiscing elit. Lorem ipsum dolor sit amet, consectetur adipiscing elit. Lorem ipsum dolor sit amet, consectetur adipiscing elit.
Research & Future Overview Symptoms & Diagnosis Treatment Options KEY POINTS 01 02 03 Write a main point here Write a main point here Write a main point here Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua.
Research & Future Overview Symptoms & Diagnosis Treatment Options The primary genetic cause of CF is a mutation in the CFTR gene, located on chromosome 7. CFTR is responsible for regulating the movement of salt and water in and out of cells, which affects the production of mucus in organs. The primary genetic cause of CF is a mutation in the CFTR gene, located on chromosome 7. CFTR is responsible for regulating the movement of salt and water in and out of cells, which affects the production of mucus in organs. GENETIC BASIS
IMPORTANT DIAGRAM Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat. Research & Future Overview Symptoms & Diagnosis CARRIER FATHER UNAFFECTED CHILD 25% 25% 50% CHILD CARRIER CHILD CARRIER CHILD WITH CF CARRIER MOTHER Treatment Options
SYMPTOMS & DIAGNOSIS Research & Future Overview Symptoms & Diagnosis Treatment Options Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua.
Research & Future Overview Symptoms & Diagnosis Treatment Options STRUCTURE & FUNCTION Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat. Label 01 Label 02 Label 03 Label 04
Research & Future Overview Symptoms & Diagnosis Treatment Options COMMON CFTR MUTATIONS Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam.
DIGESTIVE COMPLICATIONS Research & Future Overview Symptoms & Diagnosis Treatment Options 01 02 03 Pancreatic insufficiency Nutrient malabsorption Liver & intestinal complications Lorem ipsum dolor sit amet, consectetur adipiscing elit. Lorem ipsum dolor sit amet, consectetur adipiscing elit. Lorem ipsum dolor sit amet, consectetur adipiscing elit.
Mutation Prevalence (%) Effect on CFTR Protein Treatment Options ΔF508 70% Misfolded protein, degraded CFTR modulators (Ivacaftor/Lumacaftor) G542X 5% Premature stop codon, no protein Gene therapy (future potential) G551D 4% Gating defect Ivacaftor (Kalydeco) R117H 3% Reduced channel activity Ivacaftor (Kalydeco) Other Mutations 18% Various effects Depends on mutation, some ineligible for modulators CFTR MUTATIONS & THEIR IMPACT Research & Future Overview Symptoms & Diagnosis Treatment Options
TREATMENT OPTIONS Research & Future Overview Symptoms & Diagnosis Treatment Options Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua.
Research & Future Overview Symptoms & Diagnosis Treatment Options DIAGNOSIS OF CYSTIC FIBROSIS Genetic testing Sweat test Newborn screening Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam.
Research & Future Overview Symptoms & Diagnosis Treatment Options CURRENT TREATMENTS Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam.
Research & Future Overview Symptoms & Diagnosis Treatment Options RESEARCH Lorem ipsum dolor sit amet, consectetur adipiscing elit. Write a main idea here Lorem ipsum dolor sit amet, consectetur adipiscing elit. Write a main idea here Lorem ipsum dolor sit amet, consectetur adipiscing elit. Write a main idea here Lorem ipsum dolor sit amet, consectetur adipiscing elit. Write a main idea here Lorem ipsum dolor sit amet, consectetur adipiscing elit. Write a main idea here Lorem ipsum dolor sit amet, consectetur adipiscing elit. Write a main idea here
THANK YOU Research & Future Overview Symptoms & Diagnosis Treatment Options 123-456-7890 [email protected] reallygreatsite.com @reallygreatsite
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