Topics

F508del/F508del
Thank you for your reply. Here is more detailed information about diagnosis of my son. In my first question I had no documentation at hand. My son was diagnosed with CF, F508del homozygote. I would like to ask what that means. Thank you very much.
23.04.2009
Examination for Delta F508 mutation of cystic fibrosis
Is it necessary during the examination for both the man and the woman to be present, or can it be carried out seperately?
08.04.2009
VX 809 -gene therapy
My son is 6 years old and he has a cystic fibrosis - genotype Delta F 508 in both allels. When we can to expect the gene therapy of product VX 809 in Europe as part of necessary medical therapy?
07.04.2009
Carriers CF
I have CF and my daughters are carriers. Now I have read that in America injections are being given to carriers so that they can’t become sick and they can’t give the disease to other people. Now this seems a major breakthrough and would certainly prevent lots of CF. It seems however unlikely. ...
07.04.2009
R1048G mutation
My husband is a heterozygous carrier of R1048G, I am a heterozygous carrier of R1162X; my 4-year-old daughter has a mild form of CF, which, however, seems to be attributable to my husband’s genes. What information is available about R1048G so far?
24.03.2009
PTC 124 / Vertex VX-809
My son has the following mutations: 1717 1g --> A (class I mutation) as well as s549R (class II mutation). “1717 1g --> a” is a class I mutation. More precisely, it is a splice site mutation which, however, triggers a stop codon. Is PTC 124 effective with this kind of mutation? The ...
24.03.2009
CF with two nonsense mutations
Hello, our son (5 weeks old) was born with meconium ileus and suffers from exocrine pancreatic insufficiency, which is being treated with pancreatin. By now, it is clear that he has CF. The genetic test showed a compound heterozygosity with nonsense mutation in exons 6 and 11 (heterozygous ...
02.03.2009
PCT 124
Dear expert advice team, I have the following mutations, 508 and R 1066C. Since R1066C is a so-called nonsense mutation: Could you inform me if PCT 124 can be a cure in this case or makes treatment more effective? Is there already a date when this drug will be available? Thank you very ...
24.02.2009
PCT 124
Does PCT 124 help in case of cftr dele 2,3?
24.02.2009
Wilson disease
Where I can do genetic analysis and how much is it?
24.02.2009
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