Treatments based on genetics

[Mommafirst]

This is very interesting, Tammy. But it does seem contradictory to the repeated messages we have been getting that genetic mutations aren't a predictor of anything except pancreatic sufficiency. I am quite interested in seeing where this goes. Our doctor recently said to us that my daughter's first year didn't go at all as he expected based on her mutation combination.

Thanks for posting about this. I'd love to hear updates as you hear more.

 

[wuffles]

Different mutations cause different problems with the CFTR protein and work in different ways. With some, there is an absence of CFTR, some only partially effect CFTR function, etc. So it makes sense that certain genes can be targeted.

 

[wuffles]

Different mutations cause different problems with the CFTR protein and work in different ways. With some, there is an absence of CFTR, some only partially effect CFTR function, etc. So it makes sense that certain genes can be targeted.

 

[wuffles]

Different mutations cause different problems with the CFTR protein and work in different ways. With some, there is an absence of CFTR, some only partially effect CFTR function, etc. So it makes sense that certain genes can be targeted.

 

[JazzysMom]

My clinic hadnt said anything the last time I was down. I would be hesitant about such an approach. I suppose it depends on the knowledge of the mutations etc. BUT since it is obvious that the mutation doesnt guarantee an outcome. Now if they are using this only as a tool just like pfts, sputum cultures etc I would be more comfortable (I think). If anyone hears more about it please share....

 

[JazzysMom]

My clinic hadnt said anything the last time I was down. I would be hesitant about such an approach. I suppose it depends on the knowledge of the mutations etc. BUT since it is obvious that the mutation doesnt guarantee an outcome. Now if they are using this only as a tool just like pfts, sputum cultures etc I would be more comfortable (I think). If anyone hears more about it please share....

 

[JazzysMom]

My clinic hadnt said anything the last time I was down. I would be hesitant about such an approach. I suppose it depends on the knowledge of the mutations etc. BUT since it is obvious that the mutation doesnt guarantee an outcome. Now if they are using this only as a tool just like pfts, sputum cultures etc I would be more comfortable (I think). If anyone hears more about it please share....

 

[miesl]

I'm sure they are referring to PTC124 - a drug currently in development.

It's been shown to partially restore CFTR function for nonsense mutations.

From the <a target=_blank class=ftalternatingbarlinklarge href="http://www.ptcbio.com/3.1.1_generic_disorders.aspx">website</a> of PTC Theraputics:
<div class="FTQUOTE"><begin quote>PTC124 is a novel, orally administered small-molecule compound that targets a particular genetic alteration known as a nonsense mutation. Genetic disorders occur as a consequence of mutations in an individual's DNA. Nonsense mutations are alterations in the DNA that, when transcribed into mRNA, introduce a premature translation termination codon. This change halts the ribosomal translation process at an earlier site than normal, producing a truncated, non-functional protein. PTC is developing PTC124 for the treatment of genetic disorders in which a nonsense mutation is the cause of the disease.</end quote></div>

In simple terms, a nonsense mutation (ends in X) is like tossing a stop sign in the middle of the freeway. The cell is making the protein (driving the freeway), it sees the stop sign and stops - even though it doesn't belong there. This drug tells the cell to ignore the stop sign and keep driving, so it completes the CTFR protein. For those who are visual learners - there's a nifty picture on PTC's website.

 

[miesl]

I'm sure they are referring to PTC124 - a drug currently in development.

It's been shown to partially restore CFTR function for nonsense mutations.

From the <a target=_blank class=ftalternatingbarlinklarge href="http://www.ptcbio.com/3.1.1_generic_disorders.aspx">website</a> of PTC Theraputics:
<div class="FTQUOTE"><begin quote>PTC124 is a novel, orally administered small-molecule compound that targets a particular genetic alteration known as a nonsense mutation. Genetic disorders occur as a consequence of mutations in an individual's DNA. Nonsense mutations are alterations in the DNA that, when transcribed into mRNA, introduce a premature translation termination codon. This change halts the ribosomal translation process at an earlier site than normal, producing a truncated, non-functional protein. PTC is developing PTC124 for the treatment of genetic disorders in which a nonsense mutation is the cause of the disease.</end quote></div>

In simple terms, a nonsense mutation (ends in X) is like tossing a stop sign in the middle of the freeway. The cell is making the protein (driving the freeway), it sees the stop sign and stops - even though it doesn't belong there. This drug tells the cell to ignore the stop sign and keep driving, so it completes the CTFR protein. For those who are visual learners - there's a nifty picture on PTC's website.

 

[miesl]

I'm sure they are referring to PTC124 - a drug currently in development.

It's been shown to partially restore CFTR function for nonsense mutations.

From the <a target=_blank class=ftalternatingbarlinklarge href="http://www.ptcbio.com/3.1.1_generic_disorders.aspx">website</a> of PTC Theraputics:
<div class="FTQUOTE"><begin quote>PTC124 is a novel, orally administered small-molecule compound that targets a particular genetic alteration known as a nonsense mutation. Genetic disorders occur as a consequence of mutations in an individual's DNA. Nonsense mutations are alterations in the DNA that, when transcribed into mRNA, introduce a premature translation termination codon. This change halts the ribosomal translation process at an earlier site than normal, producing a truncated, non-functional protein. PTC is developing PTC124 for the treatment of genetic disorders in which a nonsense mutation is the cause of the disease.</end quote></div>

In simple terms, a nonsense mutation (ends in X) is like tossing a stop sign in the middle of the freeway. The cell is making the protein (driving the freeway), it sees the stop sign and stops - even though it doesn't belong there. This drug tells the cell to ignore the stop sign and keep driving, so it completes the CTFR protein. For those who are visual learners - there's a nifty picture on PTC's website.

 

[tammykrumrey]

Yes, I agree that they are probably speaking of drugs like the PTC124. I knew that was in the pipeline, although my girls do not carry a stop mutation. I am sure to learn more about it in the near future.

The Q & A worksheet they gave me talks about 'pharmacogenetics' and how they could possibly identify drugs that work better or have fewer side effects for some persons versus others.

Always something new<img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[tammykrumrey]

Yes, I agree that they are probably speaking of drugs like the PTC124. I knew that was in the pipeline, although my girls do not carry a stop mutation. I am sure to learn more about it in the near future.

The Q & A worksheet they gave me talks about 'pharmacogenetics' and how they could possibly identify drugs that work better or have fewer side effects for some persons versus others.

Always something new<img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[tammykrumrey]

Yes, I agree that they are probably speaking of drugs like the PTC124. I knew that was in the pipeline, although my girls do not carry a stop mutation. I am sure to learn more about it in the near future.

The Q & A worksheet they gave me talks about 'pharmacogenetics' and how they could possibly identify drugs that work better or have fewer side effects for some persons versus others.

Always something new<img src="i/expressions/face-icon-small-smile.gif" border="0">