Genotyping, John's Hopkin's research

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franzie2984

Member
Not sure where to best post this or even how to word it. I have seen several people in various threads talk about how they are going to find out their 2nd or both mutations soon. I am also doing this soon through the John's Hopkin's mapping study. I have one F508 mutation, but the other is unknown (we think). I am curious to hear who is getting this done and then...excitement...what your mutations are?! I know with the new drugs coming out this is more important than ever. I am also interested in people who know their mutations and what those are and also what their general CF function is? I wish we could make a huge database of all this so we could link them all together (I guess that is what John's Hopkins has though anyways..)
 
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franzie2984

Member
Not sure where to best post this or even how to word it. I have seen several people in various threads talk about how they are going to find out their 2nd or both mutations soon. I am also doing this soon through the John's Hopkin's mapping study. I have one F508 mutation, but the other is unknown (we think). I am curious to hear who is getting this done and then...excitement...what your mutations are?! I know with the new drugs coming out this is more important than ever. I am also interested in people who know their mutations and what those are and also what their general CF function is? I wish we could make a huge database of all this so we could link them all together (I guess that is what John's Hopkins has though anyways..)
 
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SarahProcter

Guest
It is fabulous that they're figuring out more mutations. It is powerful and important to know what mutations you have.

But. Be prepared for finding out the name of the mutation to not be immediately very useful. They are indeed working on creating a new and better mutation database that links to clinical information and patient outcomes, which will eventually be very useful. But for the moment, you may find that you are the only person in the database with your currently-unknown possibly-rare mutation, and that your information going into the database may be very interesting for the next person diagnosed, but it may sit there lonely for a while.

It's important to do, it's great you're doing it. I am really looking forward to the expanded CFTR2 mutation database and to the expansion of the CFF's data gathering from certified CF centers. It also may be frustrating for a while if you find yourself the only person in the database with your mutation. I speak as the mother of a child whose second mutation has been seen by Ambry exactly once, for whom there is patient information for exactly one other patient in the old CFTR database.
 
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SarahProcter

Guest
It is fabulous that they're figuring out more mutations. It is powerful and important to know what mutations you have.

But. Be prepared for finding out the name of the mutation to not be immediately very useful. They are indeed working on creating a new and better mutation database that links to clinical information and patient outcomes, which will eventually be very useful. But for the moment, you may find that you are the only person in the database with your currently-unknown possibly-rare mutation, and that your information going into the database may be very interesting for the next person diagnosed, but it may sit there lonely for a while.

It's important to do, it's great you're doing it. I am really looking forward to the expanded CFTR2 mutation database and to the expansion of the CFF's data gathering from certified CF centers. It also may be frustrating for a while if you find yourself the only person in the database with your mutation. I speak as the mother of a child whose second mutation has been seen by Ambry exactly once, for whom there is patient information for exactly one other patient in the old CFTR database.
 
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saveferris2009

New member
Doesn't Ambry genetics already test for all known genes for the past decade or so? I'm confused as to what the difference is between this and Johns Hopkins .....
 
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saveferris2009

New member
Doesn't Ambry genetics already test for all known genes for the past decade or so? I'm confused as to what the difference is between this and Johns Hopkins .....
 
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Incomudrox

New member
Amy John Hopkins is doing it for free. Some Medicaid plans (which a good number of people are on) do not pay for Ambry's. Also John Hopkins is using the Data for the CFTR2 project as stated. That being said as I said before my Typing is being done at John Hopkins.
 
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Incomudrox

New member
Amy John Hopkins is doing it for free. Some Medicaid plans (which a good number of people are on) do not pay for Ambry's. Also John Hopkins is using the Data for the CFTR2 project as stated. That being said as I said before my Typing is being done at John Hopkins.
 
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