Topics

MUTATION c.1680-886A>G (remainder)
Hello, Thank you for your reply on the mutation c.1680-886A> G. It is therefore a splicing mutation and not a "nonsense" mutation. However, since due to reading frameshift it leads to a stop codon, can we assume that patients with this mutation would be eligibe to ataluren (PTC124)? Thank ...
11.05.2016
Contraception in case of the intake of Orkambi® or the like
My daughter (20 yrs) takes part in a Vertex study, the drug is similar to Orkambi®. For contraception, the pill and all other hormone-based devices, are not suitable. How can she do an effective contraception without being afraid of getting pregnant? The gynecologist has no understanding for her ...
25.04.2016
Orkambi® Side Effects
Good evening Do you have information on the side effects of this treatment (Orkambi®) available in France since shortly but already widely distributed in CANADA or the USA? The side effects are severe and there is little feedback to take a decision. Best regards
24.04.2016
Sweat test with Kalydeco®
Dear physicians, my son has the mutations G1244E and R553X and gets Kalydeco® for 2 months. He has had a sweat test result of 110 at his diagnose about 2 years ago and now after two months of Kalydeco® the value went down to 80. My question is, do you think that this is the endpoint or can one ...
16.04.2016
Healing of genetic disorders?
The university of Dresden (Germany) together with the Heinrich-Pette institute in Hamburg, Germany, developed a method, that can liberate the HIV code from the human genetic material. It is reported, that with that there is a chance, to heal genetic diseases, as with this method one could influence ...
16.04.2016
Function of correctors for stop mutations
Dear ladies and gentlemen, I would like to know, how exactly the correctors (e.g. Lumacaftor) are acting on stop mutations on the molecular genetic level. Are those synthetic tRNAs that bind to the wrong stop codons? I would be pleased if you could explain the function of the corrector ...
16.04.2016
Replace a gene with a special method
Hello, is the CRISPR / cas9 method envisaged in cystic fibrosis? Are trials going on? Thank you
08.04.2016
Mutations F508del & I507del
Hello, We are the proud parents of a beautiful boy with the mutations F508 and I507. We would like to have more information on both mutations together. Our son’s disease looks more digestive than respiratory, although he already had two pseudomonas colonizations (halted by an oral cure and an ...
27.02.2016
CF Treatments
Hi, I'm a CF, I am 15 years old. I am looking for new drugs. I'd like your response. Thank you.
27.02.2016
Orkambi® prescription
Hello My son aged 30, has a F508del mutation but has not been offered ORKAMBI® yet. His FEV1 is 27% and he made all pre-transplant tests a year ago. Are all patients taken into consideration for Orkambi or are there cases where this treatment is not recommended? Has he to request it from the ...
27.02.2016
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