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Genetics

Watch webcasts about genetics-related CF topics such as mutations and genetic counseling.

Specific CF Mutations


Have questions about the following webcasts? Submit your questions via email now.



Nonsense or Stop CF Mutations, e.g., G542X

Nonsense or Stop Mutations  This video talks about how CF affects the body and the lungs. There also is a graphic example of what a nonsense or stop mutation is and how a new therapy or drug might help a person with one of these mutations. 

Speaker:  Peter Mogayzel, M.D., Ph.D.

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 Gating CF Mutations, e.g., G551D

Gating Mutations  This video talks about how CF affects the body and the lungs. There also is a graphic example of what a gating mutation is and how a new therapy or drug might help a person with one of these mutations.

Speaker:  Peter Mogayzel, M.D., Ph.D.

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 Protein Processing CF Mutations, e.g., F508del or DeltaF508

Proteing Processing   This video talks about how CF affects the body and the lungs. There also is a graphic example of what a protein processing mutation is and how a new therapy or drug might help a person with one of these mutations.

Speaker:  Peter Mogayzel, M.D., Ph.D.

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 Other CF Mutations, e.g., R117H

Other Mutations  This video talks about how CF affects the body and the lungs. There also is a graphic example of what a other CF mutations are and how a new therapy or drug might help a person with one of these mutations.

Speaker:  Peter Mogayzel, M.D., Ph.D.

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CF Genetic Counseling: Beyond 1 in 4 
CF Genetic Counseling: Beyond 1 in 4  March 2012 - Learn about how the CF gene is passed on to children, what is a variant, polymorphism, disease-causing mutation, and how a genetic counselor can help you.

Speakers: Elinor Langfelder Schwind, M.S. and Christina Zaleski, M.S.

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CFTR2: Information about CF Mutations 
CFTR2: Information about CF Mutations  

March 2012 - Learn what CFTR2 is and how this research is helping us learn more about CFTR mutritons and the symptoms a specific mutation may cause.

Speakers: Garry Cutting, M.D.; and Patrick Sosnay, M.D.

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Orientation to CFTR2 Website: Information about Specific CF Mutations 
Orientation to CFTR2 Website: Information about Specific CF Mutations  

March 2012 - Get an orientation on using the CFTR2 website to learn about specific CF mutations.

Speakers: Patrick Sosnay, M.D.

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