Genomics and me living with a cystic fibrosis family s carlson bl 3300 06 december 2002
This presentation is the property of its rightful owner.
Sponsored Links
1 / 19

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


  • 40 Views
  • Uploaded on
  • Presentation posted in: General

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

Download Presentation

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

An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -

Presentation Transcript


Genomics and me living with a cystic fibrosis family s carlson bl 3300 06 december 2002

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


What is cystic fibrosis

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


Genomics and me living with a cystic fibrosis family s carlson bl 3300 06 december 2002

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


Genomics and me living with a cystic fibrosis family s carlson bl 3300 06 december 2002

  • 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


Cftr gene

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


One amino acid

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


What does cftr do

What does CFTR do?

  • Regulates cAMP pumps

    • Cl- channels

    • Na+ / Cl- equilibrium

    • Water balances concentration of Na+ and Cl- across cell

    • Fluid secretion


Mutated cftr

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


My family tree

My Family Tree

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


Cf in my family

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


Treatment

Treatment

  • Preventative

    • Postural drainage

    • Positive expiratory pressure (PEP) mask

    • Flutter valve

  • Lung infection

    • Vaccines

    • Antibiotics

  • Enzyme Regulation

  • Diet Regulation


Complication cfrd

Complication: CFRD

  • Cystic Fibrosis Related Diabetes (CFRD)

  • Depressed pancreatic insulin production

    • Insulin injections

    • Additional diet regulation


Complication depression

Complication: Depression

  • Adolescents deal with tough issues

  • Lyn

    • Anorexia

    • Bulemia

    • Depression

    • Feeling out of control of life

  • Symptoms aren’t published


Am i a carrier

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


Hope for a cure

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


Genomics and me

Genomics and Me

  • Behavior as a child

  • Choice of Michigan Tech

  • Decision to have children

  • Decision to become a doctor


Lyn carlson age 17 and doing well

Lyn Carlson – Age 17 and Doing Well!


Questions

Questions?


References

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


  • Login