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sixtyfiveroses | A blog about Cystic Fibrosis Research

A blog about Cystic Fibrosis Research

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4 cftr mutation classes
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sixtyfiveroses | A blog about Cystic Fibrosis Research | sixtyfiverosesblog.wordpress.com Reviews

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A blog about Cystic Fibrosis Research

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1

Specific Mutation Info | sixtyfiveroses

https://sixtyfiverosesblog.wordpress.com/specific-mutation-info

Class 1 Nonsense Mutations. Class 2 Mutations and F508del. Class 3 Gating Mutations and G551D. Residual Function Mutations and R117H. Vertex – Kalydeco. Vertex – VX809 and VX661. Vertex – Second Generation Correctors. Calista Therapeutics – Procaftor. Galapagos – GLPG1. Genzyme – CFTR Research. N30 – N6022 and N91115. Pfizer – F508del Research. Proteostasis – F508del Research. PTC – Ataluren. ProQR – F508del Research. Novoteris – Nitric Oxide. Kalydeco and Other Mutations. What is a missense mutation?

2

Kalydeco & Other Mutations | sixtyfiveroses

https://sixtyfiverosesblog.wordpress.com/kalydeco-with-other-mutations

Class 1 Nonsense Mutations. Class 2 Mutations and F508del. Class 3 Gating Mutations and G551D. Residual Function Mutations and R117H. Vertex – Kalydeco. Vertex – VX809 and VX661. Vertex – Second Generation Correctors. Calista Therapeutics – Procaftor. Galapagos – GLPG1. Genzyme – CFTR Research. N30 – N6022 and N91115. Pfizer – F508del Research. Proteostasis – F508del Research. PTC – Ataluren. ProQR – F508del Research. Novoteris – Nitric Oxide. Kalydeco and Other Mutations. Kalydeco and Other Mutations.

3

CF Mutation Classes | sixtyfiveroses

https://sixtyfiverosesblog.wordpress.com/cf-mutation-classes

Class 1 Nonsense Mutations. Class 2 Mutations and F508del. Class 3 Gating Mutations and G551D. Residual Function Mutations and R117H. Vertex – Kalydeco. Vertex – VX809 and VX661. Vertex – Second Generation Correctors. Calista Therapeutics – Procaftor. Galapagos – GLPG1. Genzyme – CFTR Research. N30 – N6022 and N91115. Pfizer – F508del Research. Proteostasis – F508del Research. PTC – Ataluren. ProQR – F508del Research. Novoteris – Nitric Oxide. Kalydeco and Other Mutations. Some CFTR protein reaches the c...

4

G551D & Kalydeco | sixtyfiveroses

https://sixtyfiverosesblog.wordpress.com/g551d-and-kalydeco

Class 1 Nonsense Mutations. Class 2 Mutations and F508del. Class 3 Gating Mutations and G551D. Residual Function Mutations and R117H. Vertex – Kalydeco. Vertex – VX809 and VX661. Vertex – Second Generation Correctors. Calista Therapeutics – Procaftor. Galapagos – GLPG1. Genzyme – CFTR Research. N30 – N6022 and N91115. Pfizer – F508del Research. Proteostasis – F508del Research. PTC – Ataluren. ProQR – F508del Research. Novoteris – Nitric Oxide. Kalydeco and Other Mutations. Trial Results: Journal Article.

5

Australian Mutation Statistics | sixtyfiveroses

https://sixtyfiverosesblog.wordpress.com/australian-mutation-statistics

Class 1 Nonsense Mutations. Class 2 Mutations and F508del. Class 3 Gating Mutations and G551D. Residual Function Mutations and R117H. Vertex – Kalydeco. Vertex – VX809 and VX661. Vertex – Second Generation Correctors. Calista Therapeutics – Procaftor. Galapagos – GLPG1. Genzyme – CFTR Research. N30 – N6022 and N91115. Pfizer – F508del Research. Proteostasis – F508del Research. PTC – Ataluren. ProQR – F508del Research. Novoteris – Nitric Oxide. Kalydeco and Other Mutations. Lass 3 (Gating) Total = 7.6%.

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ourf508life.wordpress.com ourf508life.wordpress.com

July | 2014 | Our ΔF508 Life

https://ourf508life.wordpress.com/2014/07

Our ΔF508 Life. Our family, living with CF. Monthly Archives: July 2014. July 14, 2014. So You’ve Found Out Your Unborn Baby Has Cystic Fibrosis. Or that you and your partner both carry the cystic fibrosis gene (or I should say one of the many genes that can cause CF). I’ve thought a lot about this problem since Alma was born. What does it mean to know that your child will, or that your child might, have cystic fibrosis? It’s something that sometimes gets framed as an “ impossible choice. Ok What I can s...

ourf508life.wordpress.com ourf508life.wordpress.com

So You’ve Found Out Your Unborn Baby Has Cystic Fibrosis. | Our ΔF508 Life

https://ourf508life.wordpress.com/2014/07/14/so-youve-found-out-your-unborn-baby-has-cystic-fibrosis

Our ΔF508 Life. Our family, living with CF. So You’ve Found Out Your Unborn Baby Has Cystic Fibrosis. July 14, 2014. Or that you and your partner both carry the cystic fibrosis gene (or I should say one of the many genes that can cause CF). I’ve thought a lot about this problem since Alma was born. What does it mean to know that your child will, or that your child might, have cystic fibrosis? It’s something that sometimes gets framed as an “ impossible choice. So What can I contribute instead. Ok What I ...

ourf508life.wordpress.com ourf508life.wordpress.com

Our ΔF508 Life | Our family, living with CF | Page 2

https://ourf508life.wordpress.com/page/2

Our ΔF508 Life. Our family, living with CF. September 10, 2013. Today has been a hard day. Today I found out that a woman with CF who I know died. I didn’t know her well at all, and only knew her because she contacted a friend of mine when Alma was diagnosed. She was very kind and told me in that first awful week that there was a lot of hope for Alma. I didn’t hear much from her after that, though I saw her occasional posts on Facebook. And now she’s gone. What is the next exciting installment? When I se...

magicbluepill.wordpress.com magicbluepill.wordpress.com

magicbluepill

https://magicbluepill.wordpress.com/page/7

A blog about Cystic Fibrosis and Kalydeco. Kalydeco and Other Mutations. Info for CFs on Kalydeco. The name of this blog. September 13, 2012. I just thought I would share something funny: I wanted to use blogger by google but magicbluepill was already taken. So I decided to find out what the other magicbluepill was and it turns out its viagra! Wouldnt want to get the two pills mixed up! This entry was posted in Uncategorized. September 12, 2012. May 3, 2013. G551D and F508del, diagnosed at age 3.5. Creon...

magicbluepill.wordpress.com magicbluepill.wordpress.com

#YesToKalydeco Campaign goes to Canberra « magicbluepill

https://magicbluepill.wordpress.com/2014/05/31/yestokalydeco-campaign-goes-to-canberra

A blog about Cystic Fibrosis and Kalydeco. Kalydeco and Other Mutations. Info for CFs on Kalydeco. YesToKalydeco Campaign goes to Canberra. May 31, 2014. June 1, 2014. Happy 65 Roses Day everyone! I plan to write an update about my health soon, but in the meantime I thought I would write about the Kalydeco situation in Australia. We need Vertex to lower the price and we need the Australian Government to compromise on price. We need this to happen now. I’m sure the MPs that were present came away fr...

magicbluepill.wordpress.com magicbluepill.wordpress.com

Amazingly stable after 2.5 years of Kalydeco!! « magicbluepill

https://magicbluepill.wordpress.com/2015/02/17/amazingly-stable-after-2-5-years-of-kalydeco

A blog about Cystic Fibrosis and Kalydeco. Kalydeco and Other Mutations. Info for CFs on Kalydeco. Amazingly stable after 2.5 years of Kalydeco! February 17, 2015. February 18, 2015. I am having another procedure for my obstructed blood vessel tomorrow, but thought I would write about how everything is going with kalydeco in the meantime. In december kalydeco was finally listed on the PBS in Australia! This means I suddenly had much more free time, I didn’t know what to do with myself! One thought on &ld...

spititoutblogspot.com spititoutblogspot.com

Spit It Out! : January 2013

http://www.spititoutblogspot.com/2013_01_01_archive.html

A patient perspective on developments in the treatment and management of Cystic Fibrosis. I'm a 39 year old living and working with CF and CF-related diabetes. Double F508del. FEV1 is currently 25%. My motto: "If it works, do more of it. If it doesn't work, don't do it. If you're not sure, do some experiments." Twitter: @oli rayner. Wednesday, 2 January 2013. This is a controversial subject. I hope it makes people think without causing offence. These are just my personal views and, as ever, I am ...I do ...

magicbluepill.wordpress.com magicbluepill.wordpress.com

magicbluepill

https://magicbluepill.wordpress.com/page/2

A blog about Cystic Fibrosis and Kalydeco. Kalydeco and Other Mutations. Info for CFs on Kalydeco. 1000 magic blue pills. February 21, 2014. February 22, 2014. Decided to update my blog after 6 months of neglect! Last September I also had my first IVs on Kalydeco. We decided that after 1 year of Kalydeco, given that I used to have IVs every 3-4 months, that it made sense to use IVs to get my lungs in the best shape possible. I had also dropped very slightly to 66% after visiting South America. Kalydeco h...

magicbluepill.wordpress.com magicbluepill.wordpress.com

Future Medications « magicbluepill

https://magicbluepill.wordpress.com/future-medications

A blog about Cystic Fibrosis and Kalydeco. Kalydeco and Other Mutations. Info for CFs on Kalydeco. CFTR modulators are one area of Cystic Fibrosis research. These are medications which help the underlying cause of CF, the CFTR channel. Correctors (help the CFTR to get to the surface) and potentiators (help the channel to open, such as Kalydeco) are examples of CFTR modulation. Please visit this page http:/ sixtyfiverosesblog.wordpress.com/future-medications/. Leave a Reply Cancel reply. This blog is abou...

magicbluepill.wordpress.com magicbluepill.wordpress.com

Sweat Test: From 102 to 40! « magicbluepill

https://magicbluepill.wordpress.com/2013/04/19/sweat-test-from-102-to-40

A blog about Cystic Fibrosis and Kalydeco. Kalydeco and Other Mutations. Info for CFs on Kalydeco. Sweat Test: From 102 to 40! April 19, 2013. May 3, 2013. Two posts in one day! I couldn’t contain my excitement about my sweat test result so here it is:. Na 110, Cl 102). Na 60, Cl 54). Na 49, Cl 40). This means I am. Below the ‘grey area’ of 40-59! I am still hesitant to call this normal but it pretty much is! Some information about sweat tests. For people older than 6 months of age, a chloride level of:.

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sixtyfiveroses | A blog about Cystic Fibrosis Research

Class 1 Nonsense Mutations. Class 2 Mutations and F508del. Class 3 Gating Mutations and G551D. Residual Function Mutations and R117H. Vertex – Kalydeco. Vertex – VX809 and VX661. Vertex – Second Generation Correctors. Calista Therapeutics – Procaftor. Galapagos – GLPG1. Genzyme – CFTR Research. N30 – N6022 and N91115. Pfizer – F508del Research. Proteostasis – F508del Research. PTC – Ataluren. ProQR – F508del Research. Novoteris – Nitric Oxide. Kalydeco and Other Mutations. May 2014 Vertex Update. Some of...

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