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Genomics and Me: Living with a Cystic Fibrosis Family S. Carlson BL 3300 06 December 2002

Genomics and Me: Living with a Cystic Fibrosis Family S. Carlson BL 3300 06 December 2002. What is Cystic Fibrosis?. Also called CF Autosomal recessive inherited disorder Affects respiratory, digestive, and reproductive systems 1 in ~2000 births

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Genomics and Me: Living with a Cystic Fibrosis Family S. Carlson BL 3300 06 December 2002

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  1. Genomics and Me:Living with a Cystic Fibrosis FamilyS. CarlsonBL 330006 December 2002

  2. What is Cystic Fibrosis? • Also called CF • Autosomal recessive inherited disorder • Affects respiratory, digestive, and reproductive systems • 1 in ~2000 births • Most common lethal genetic disease in Caucasions • 1 in ~200 births

  3. Graphic Source: Welsh, Michael J., and Smith, Alan E. Scientific American, December 1995 http://www.people.virginia.edu/~rjh9u/cfsciam.htmc

  4. Gene discovered in 1989 • Dr. Lap-Chee Tsui • Dr. Jack Riordan • Chromosome 7 • Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Graphic Source: NCBI The Human Gene Map http://www.ncbi.nlm.nih.gov/cgi-bin/SCIENCE96/gene?CFTR

  5. CFTR Gene • Long arm of chrom 7 • Over 6000 nucleotides • Spread over 27 exons Graphic Source: “CF Pictures” http://personal.nbnet.nb.ca/normap/cfpictures.htm

  6. One Amino Acid • Since discovery of CFTR in 1989, over 900 mutations associated with CF • Most common: deletion of one phenylalanine residue at position 508 (F508) • Accounts for 70% of all CF alleles worldwide Phenylalanine (f, Phe) Graphic Source: www.chemfinder.com

  7. What does CFTR do? • Regulates cAMP pumps • Cl- channels • Na+ / Cl- equilibrium • Water balances concentration of Na+ and Cl- across cell • Fluid secretion

  8. Mutated CFTR • In CF patients, Cl- channel regulated by CFTR is closed • Decrease of Cl- secretion • Increase in Na+ transport in volume-absorbing epithelia due to increase in Na+ channel activity • Results • Thick sticky mucous in lungs • Environment for bacteria to grow • CFTR pumps in liver and pancreas also affected

  9. My Family Tree Graphic Source: “Facts About Cystic Fibrosis” http://www.nhlbi.nih.gov/health/public/lung/other/cf.htm#what

  10. CF in My Family • August 18, 1985 – Lyn Carlson born • Colicky baby? • Crying, no weight gain due to lack of nutrition from food • Diagnosed with cystic fibrosis • 65 Roses? • Enzyme supplements • Respiratory Therapy

  11. Treatment • Preventative • Postural drainage • Positive expiratory pressure (PEP) mask • Flutter valve • Lung infection • Vaccines • Antibiotics • Enzyme Regulation • Diet Regulation

  12. Complication: CFRD • Cystic Fibrosis Related Diabetes (CFRD) • Depressed pancreatic insulin production • Insulin injections • Additional diet regulation

  13. Complication: Depression • Adolescents deal with tough issues • Lyn • Anorexia • Bulemia • Depression • Feeling out of control of life • Symptoms aren’t published

  14. Am I a Carrier? • Genetic counseling • The “odds” • Insurance discrimination • Widespread confusion over difference between being a carrier of a genetic disease and actually having disease • Few legal safeguards to protect genetic “carriers” • Since then, legislation passed in some states • Husband to be tested

  15. Hope for a Cure • Gene therapy • Introduce healthy CFTR gene into CF cells • Virus (vector) introduces gene • Research has established that: • Gene transfer is possible • Expression of transferred gene is possible in humans • Expression sufficient to compensate for CFTR deficiency • Ebola, influenza may be promising leads • Some unanswered questions

  16. Genomics and Me • Behavior as a child • Choice of Michigan Tech • Decision to have children • Decision to become a doctor

  17. Lyn Carlson – Age 17 and Doing Well!

  18. Questions?

  19. References • NCBI The Human Gene Map http://www.ncbi.nlm.nih.gov/cgi-bin/SCIENCE96/gene?CFTR • Welsh, Michael J., and Smith, Alan E. Scientific American, December 1995 http://www.people.virginia.edu/~rjh9u/cfsciam.htmc • Bland, Amy, Gibson, Kevin, and Mayorga, Angela. Cystic Fibrosis.http://medicine.creighton.edu/forpatients/CF/cf.html • CF Currents: At Home Edition. Winter 1994, Vol. 2, No. 1. McNeil Pharmaceutical Co., Raritan, NJ. • CF Currents: At Home Edition. Fall 1997, Vol. 5, No. 3. McNeil PharmaceuticalCo., Raritan, NJ. • “CF Pictures” http://personal.nbnet.nb.ca/normap/cfpictures.htm • Cystic Fibrosis Central Florida Support Group. CF Informer. Nov-Dec. 2000, Vol. XIV, Orlando, FL. • Cystic Fibrosis Central Florida Support Group. CF Informer. Jan-Feb 1999, Vol. X, Orlando, FL.  • “Facts About Cystic Fibrosis” http://www.nhlbi.nih.gov/health/public/lung/other/cf.htm#what • Orenstein, David M. Cystic Fibrosis: A Guide for Patient and Family. 1997.Lippincott-Raven Publishers, Philadelphia PA. • http://www.cysticfibrosis.com/ • http://www.hum-molgen.de/bb/Forum7/HTML/000268.html • http://www.chemfinder.com

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