What is Double DF508?

[Emily65Roses]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>jbrandonAW</b></i>

(it is one of the worst genes to get)</end quote></div>

I've heard that many times before... and still wonder why people say it?

 

[thelizardqueen]

Its not the worst gene to get. Isn't it a step down from the worst class to get? I'm double delta, and for the most part have "mild" CF (as in no real problems to speak of).

 

[thelizardqueen]

Its not the worst gene to get. Isn't it a step down from the worst class to get? I'm double delta, and for the most part have "mild" CF (as in no real problems to speak of).

 

[thelizardqueen]

Its not the worst gene to get. Isn't it a step down from the worst class to get? I'm double delta, and for the most part have "mild" CF (as in no real problems to speak of).

 

[lflatford]

could someone please tell me where they have found that the double delta f508is the worst to have. I have followed this board for two years and people constantly say delta f 508is the worst to have. Sure it is the most common because of the likelyhood of genes; but also alot of the treatments are b/c of delta f508. My little girl has the double and she is for the most part pretty healthy; she has digestive issues; but also a few of the older patients with double delta have digestive issues as well and very little lung issues. CF cannot be determined by the genes you have; each case is different no matter if you have double delta f508 or something else. But to say that this the worst to have is a common misconception.

 

[lflatford]

could someone please tell me where they have found that the double delta f508is the worst to have. I have followed this board for two years and people constantly say delta f 508is the worst to have. Sure it is the most common because of the likelyhood of genes; but also alot of the treatments are b/c of delta f508. My little girl has the double and she is for the most part pretty healthy; she has digestive issues; but also a few of the older patients with double delta have digestive issues as well and very little lung issues. CF cannot be determined by the genes you have; each case is different no matter if you have double delta f508 or something else. But to say that this the worst to have is a common misconception.

 

[lflatford]

could someone please tell me where they have found that the double delta f508is the worst to have. I have followed this board for two years and people constantly say delta f 508is the worst to have. Sure it is the most common because of the likelyhood of genes; but also alot of the treatments are b/c of delta f508. My little girl has the double and she is for the most part pretty healthy; she has digestive issues; but also a few of the older patients with double delta have digestive issues as well and very little lung issues. CF cannot be determined by the genes you have; each case is different no matter if you have double delta f508 or something else. But to say that this the worst to have is a common misconception.

 

[kybert]

im pretty sure double deltaf508 isnt the worst mutation. i cant remember what it is though.

 

[kybert]

im pretty sure double deltaf508 isnt the worst mutation. i cant remember what it is though.

 

[kybert]

im pretty sure double deltaf508 isnt the worst mutation. i cant remember what it is though.

 

[amber682]

Deltaf508 is a class II mutation with a class I being the "worst" to have. My son has deltaf508 and Q493X, which is a class I. He is doing really well. Sometimes people with class III or IV mutations don't even show symptoms until much later in life. But I've seen people with doubledeltaf508 who weren't diagnosed until way later on here too. Much more than just what gene mutation you have determines how severe your CF is (like modifier genes). I actually just got an e-mail newsletter a couple days ago that says something about modifier genes being as much as 50% resposible for severity of the disease. I think I saved it, I'm going to try and copy it here. Be right back...

 

[amber682]

Deltaf508 is a class II mutation with a class I being the "worst" to have. My son has deltaf508 and Q493X, which is a class I. He is doing really well. Sometimes people with class III or IV mutations don't even show symptoms until much later in life. But I've seen people with doubledeltaf508 who weren't diagnosed until way later on here too. Much more than just what gene mutation you have determines how severe your CF is (like modifier genes). I actually just got an e-mail newsletter a couple days ago that says something about modifier genes being as much as 50% resposible for severity of the disease. I think I saved it, I'm going to try and copy it here. Be right back...

 

[amber682]

Deltaf508 is a class II mutation with a class I being the "worst" to have. My son has deltaf508 and Q493X, which is a class I. He is doing really well. Sometimes people with class III or IV mutations don't even show symptoms until much later in life. But I've seen people with doubledeltaf508 who weren't diagnosed until way later on here too. Much more than just what gene mutation you have determines how severe your CF is (like modifier genes). I actually just got an e-mail newsletter a couple days ago that says something about modifier genes being as much as 50% resposible for severity of the disease. I think I saved it, I'm going to try and copy it here. Be right back...

 

[amber682]

Here it is...



December 10, 2006

DRUG DISCOVERY;
New findings reported from University of North Carolina, Pulmonary Research and
Treatment Center describe advances in drug discovery


A report, "Gene modifiers of lung disease," is newly published data in Current
Opinion In Pulmonary Medicine. "Cystic fibrosis is a recessive genetic disease
caused by mutations in the cystic fibrosis transmembrane conductance regulator
(CFTR) gene, but there is great heterogeneity of lung-disease severity. If we
could understand non-CFTR genetic factors (modifier genes) that contribute to
the severity of lung disease, we could develop novel therapies," investigators
in the United States report.
"Early studies were small and/or phenotyping methodologies were limited;
consequently, most findings have not been replicated. Several large
gene-modifier studies have been established. These studies are complementary in terms of
design and the types of patient, and employ specialized approaches to quantitate
pulmonary disease severity. <span class="FTHighlightFont">Emerging data indicate that non-CFTR genetic
variants contribute to at least half the variability in pulmonary disease
severity, </span ft>and genetic variation in transforming growth factor beta1 clearly
modifies the severity of cystic fibrosis lung disease. The cystic fibrosis
community is working to identify the most important gene modifiers for lung
disease. Candidate genes are currently being tested, and high-resolution,
whole-genome scans are now affordable. For cystic fibrosis, several hundred
thousand genetic markers (single-nucleotide polymorphisms) will identify key
chromosomal regions and genes," wrote M.R Knowles and colleagues, University of
North Carolina, Pulmonary Research and Treatment Center.
The researchers concluded: "If successful, these studies will provide the
opportunity for novel approaches and therapies for cystic fibrosis lung disease."
Knowles and colleagues published their study in Current Opinion In Pulmonary
Medicine (Gene modifiers of lung disease. Current Opinion In Pulmonary Medicine,
2006;12(6):416-21).
For additional information, contact M.R. Knowles, Cystic Fibrosis, Pulmonary
Research and Treatment Center, 7011 Thurston-Bowles Bldg, CB# 7248, University
of North Carolina, Chapel Hill, NC 27599-7248 U.S.
This article was prepared by Pharma Investments, Ventures & Law Week editors
from staff and other reports. Copyright 2006, Pharma Investments, Ventures &
Law Week via NewsRx.com.

 

[amber682]

Here it is...



December 10, 2006

DRUG DISCOVERY;
New findings reported from University of North Carolina, Pulmonary Research and
Treatment Center describe advances in drug discovery


A report, "Gene modifiers of lung disease," is newly published data in Current
Opinion In Pulmonary Medicine. "Cystic fibrosis is a recessive genetic disease
caused by mutations in the cystic fibrosis transmembrane conductance regulator
(CFTR) gene, but there is great heterogeneity of lung-disease severity. If we
could understand non-CFTR genetic factors (modifier genes) that contribute to
the severity of lung disease, we could develop novel therapies," investigators
in the United States report.
"Early studies were small and/or phenotyping methodologies were limited;
consequently, most findings have not been replicated. Several large
gene-modifier studies have been established. These studies are complementary in terms of
design and the types of patient, and employ specialized approaches to quantitate
pulmonary disease severity. <span class="FTHighlightFont">Emerging data indicate that non-CFTR genetic
variants contribute to at least half the variability in pulmonary disease
severity, </span ft>and genetic variation in transforming growth factor beta1 clearly
modifies the severity of cystic fibrosis lung disease. The cystic fibrosis
community is working to identify the most important gene modifiers for lung
disease. Candidate genes are currently being tested, and high-resolution,
whole-genome scans are now affordable. For cystic fibrosis, several hundred
thousand genetic markers (single-nucleotide polymorphisms) will identify key
chromosomal regions and genes," wrote M.R Knowles and colleagues, University of
North Carolina, Pulmonary Research and Treatment Center.
The researchers concluded: "If successful, these studies will provide the
opportunity for novel approaches and therapies for cystic fibrosis lung disease."
Knowles and colleagues published their study in Current Opinion In Pulmonary
Medicine (Gene modifiers of lung disease. Current Opinion In Pulmonary Medicine,
2006;12(6):416-21).
For additional information, contact M.R. Knowles, Cystic Fibrosis, Pulmonary
Research and Treatment Center, 7011 Thurston-Bowles Bldg, CB# 7248, University
of North Carolina, Chapel Hill, NC 27599-7248 U.S.
This article was prepared by Pharma Investments, Ventures & Law Week editors
from staff and other reports. Copyright 2006, Pharma Investments, Ventures &
Law Week via NewsRx.com.

 

[amber682]

Here it is...



December 10, 2006

DRUG DISCOVERY;
New findings reported from University of North Carolina, Pulmonary Research and
Treatment Center describe advances in drug discovery


A report, "Gene modifiers of lung disease," is newly published data in Current
Opinion In Pulmonary Medicine. "Cystic fibrosis is a recessive genetic disease
caused by mutations in the cystic fibrosis transmembrane conductance regulator
(CFTR) gene, but there is great heterogeneity of lung-disease severity. If we
could understand non-CFTR genetic factors (modifier genes) that contribute to
the severity of lung disease, we could develop novel therapies," investigators
in the United States report.
"Early studies were small and/or phenotyping methodologies were limited;
consequently, most findings have not been replicated. Several large
gene-modifier studies have been established. These studies are complementary in terms of
design and the types of patient, and employ specialized approaches to quantitate
pulmonary disease severity. <span class="FTHighlightFont">Emerging data indicate that non-CFTR genetic
variants contribute to at least half the variability in pulmonary disease
severity, </span ft>and genetic variation in transforming growth factor beta1 clearly
modifies the severity of cystic fibrosis lung disease. The cystic fibrosis
community is working to identify the most important gene modifiers for lung
disease. Candidate genes are currently being tested, and high-resolution,
whole-genome scans are now affordable. For cystic fibrosis, several hundred
thousand genetic markers (single-nucleotide polymorphisms) will identify key
chromosomal regions and genes," wrote M.R Knowles and colleagues, University of
North Carolina, Pulmonary Research and Treatment Center.
The researchers concluded: "If successful, these studies will provide the
opportunity for novel approaches and therapies for cystic fibrosis lung disease."
Knowles and colleagues published their study in Current Opinion In Pulmonary
Medicine (Gene modifiers of lung disease. Current Opinion In Pulmonary Medicine,
2006;12(6):416-21).
For additional information, contact M.R. Knowles, Cystic Fibrosis, Pulmonary
Research and Treatment Center, 7011 Thurston-Bowles Bldg, CB# 7248, University
of North Carolina, Chapel Hill, NC 27599-7248 U.S.
This article was prepared by Pharma Investments, Ventures & Law Week editors
from staff and other reports. Copyright 2006, Pharma Investments, Ventures &
Law Week via NewsRx.com.

 

[ReneeP]

I was also told that Double Delta F508 was the worst mutation to have when my daughter was diagnosed (that's what both my daughters have). Well, to be fair, the nurse didn't exactly say it was the worst in so many words. Her exact words were "it's the one you don't want to have"... either way it was hard to hear. It scared the daylights out of me.

Both my daughters are very healthy (relatively speaking). I mean, they have their share of issues. My older one is on growth hormone injections to try to enhance her growth but she hasn't had any lung problems since she was finally daignosed at 2 1/2 years of age...she will be 12 tomorrow. She was very ill before that but since being properly treated she has done very well. Her FEV1 usually runs around 121% and that is great considering all the problems and bouts of pneumonia she had prior to diagnosis.

My younger daugher (age 7) has never had a lung infection. Her FEV1 is around 155% (her highest ever was 175% about a year ago, but it normally runs around 155%). She has more than her share of sinus problems...5 surgeries in the last year... but lung wise, she is great. She is very small for her age, but not "off the charts"... probably just under the 10th percentile.

There is so much more that determines how a person will do than the mutation itself. Preventive care has a lot to do with it, but even that isn't all there is too it. I know a family who have two daughters with Double Delta F508 and have devoted their lives to caring for those girls. They are very loyal to their routines but the girls are not healthy at all. The 11 year old is being evaluated for a lung transplant with a FEV1 of 21%... CF is not very predictible regardless of mutation.

 

[ReneeP]

I was also told that Double Delta F508 was the worst mutation to have when my daughter was diagnosed (that's what both my daughters have). Well, to be fair, the nurse didn't exactly say it was the worst in so many words. Her exact words were "it's the one you don't want to have"... either way it was hard to hear. It scared the daylights out of me.

Both my daughters are very healthy (relatively speaking). I mean, they have their share of issues. My older one is on growth hormone injections to try to enhance her growth but she hasn't had any lung problems since she was finally daignosed at 2 1/2 years of age...she will be 12 tomorrow. She was very ill before that but since being properly treated she has done very well. Her FEV1 usually runs around 121% and that is great considering all the problems and bouts of pneumonia she had prior to diagnosis.

My younger daugher (age 7) has never had a lung infection. Her FEV1 is around 155% (her highest ever was 175% about a year ago, but it normally runs around 155%). She has more than her share of sinus problems...5 surgeries in the last year... but lung wise, she is great. She is very small for her age, but not "off the charts"... probably just under the 10th percentile.

There is so much more that determines how a person will do than the mutation itself. Preventive care has a lot to do with it, but even that isn't all there is too it. I know a family who have two daughters with Double Delta F508 and have devoted their lives to caring for those girls. They are very loyal to their routines but the girls are not healthy at all. The 11 year old is being evaluated for a lung transplant with a FEV1 of 21%... CF is not very predictible regardless of mutation.

 

[ReneeP]

I was also told that Double Delta F508 was the worst mutation to have when my daughter was diagnosed (that's what both my daughters have). Well, to be fair, the nurse didn't exactly say it was the worst in so many words. Her exact words were "it's the one you don't want to have"... either way it was hard to hear. It scared the daylights out of me.

Both my daughters are very healthy (relatively speaking). I mean, they have their share of issues. My older one is on growth hormone injections to try to enhance her growth but she hasn't had any lung problems since she was finally daignosed at 2 1/2 years of age...she will be 12 tomorrow. She was very ill before that but since being properly treated she has done very well. Her FEV1 usually runs around 121% and that is great considering all the problems and bouts of pneumonia she had prior to diagnosis.

My younger daugher (age 7) has never had a lung infection. Her FEV1 is around 155% (her highest ever was 175% about a year ago, but it normally runs around 155%). She has more than her share of sinus problems...5 surgeries in the last year... but lung wise, she is great. She is very small for her age, but not "off the charts"... probably just under the 10th percentile.

There is so much more that determines how a person will do than the mutation itself. Preventive care has a lot to do with it, but even that isn't all there is too it. I know a family who have two daughters with Double Delta F508 and have devoted their lives to caring for those girls. They are very loyal to their routines but the girls are not healthy at all. The 11 year old is being evaluated for a lung transplant with a FEV1 of 21%... CF is not very predictible regardless of mutation.

 

[dyza]

The DF508 tends to cause pancreatic insufficencies, our son's Dr said to us that the DF508 is a 'trigger gene'. Incidently our son's pancreas works fine, his other gene, RH117, is a class 4 mutation.
I have double RH117, but have no symptoms whatsoever and so my Dr has not DX me as having CF. Who else has a double gene, other than DF508, I know there are some here.