Twenty-five years ago this month, the CFTR gene was discovered.
Here are some facts:
- The CFTR defect is really a very subtle defect and much easier to study then most.
- CF is caused by a defect in a single gene, affecting the CFTR protein.
- The CFTR protein helps to regulate chloride and water in the mucous.
- In CF, the CFTR protein has trouble regulating chloride and water in mucous.
- Thick, sticky mucous is a result of a mutation in the CFTR gene.
- About 2000 different mutations have been identified that can lead to varying forms of CF.
- CF is a model disease for gene therapy and maybe the first disease where gene therapy will eventually work.
- Kalydeco targets only 4% of the CF population with the mutation G551D (celtic gene).
- CF is a disease where futuristic personalized medicine will be used.
- Life expectancy is now in the mid-40's but children born today with CF can expect to live well into their 50's.
- Time considerations are crucial in managing CF.
“ It's like having another full-time job – because if I don’t take care of myself and my CF, I’m not going to be around for my child and my husband and to do any of the things I love.”
Industry catering to the CF market listen up! Innovate by designing products and services that will allow for people living with or caring for someone with CF to spend less TIME treating the disease and more TIME living their lives and being with loved ones. If you are successful in doing this, you will be the greatest innovators of the 21st century in Healthcare.
A cure is of course the holly grail of TIME restoration, but until then, innovate by addressing the importance of TIME. After all, what are drugs and therapies but tools to allow us to alleviate illness and get on with our lives… - Chris Baldwin, PhD.
Read more, like, share and comment on our facebook: https://www.facebook.com/knowcf/posts/10152826080198777
- Chris
Here are some facts:
- The CFTR defect is really a very subtle defect and much easier to study then most.
- CF is caused by a defect in a single gene, affecting the CFTR protein.
- The CFTR protein helps to regulate chloride and water in the mucous.
- In CF, the CFTR protein has trouble regulating chloride and water in mucous.
- Thick, sticky mucous is a result of a mutation in the CFTR gene.
- About 2000 different mutations have been identified that can lead to varying forms of CF.
- CF is a model disease for gene therapy and maybe the first disease where gene therapy will eventually work.
- Kalydeco targets only 4% of the CF population with the mutation G551D (celtic gene).
- CF is a disease where futuristic personalized medicine will be used.
- Life expectancy is now in the mid-40's but children born today with CF can expect to live well into their 50's.
- Time considerations are crucial in managing CF.
“ It's like having another full-time job – because if I don’t take care of myself and my CF, I’m not going to be around for my child and my husband and to do any of the things I love.”
Industry catering to the CF market listen up! Innovate by designing products and services that will allow for people living with or caring for someone with CF to spend less TIME treating the disease and more TIME living their lives and being with loved ones. If you are successful in doing this, you will be the greatest innovators of the 21st century in Healthcare.
A cure is of course the holly grail of TIME restoration, but until then, innovate by addressing the importance of TIME. After all, what are drugs and therapies but tools to allow us to alleviate illness and get on with our lives… - Chris Baldwin, PhD.
Read more, like, share and comment on our facebook: https://www.facebook.com/knowcf/posts/10152826080198777
- Chris
