I am not going to sit back anymore.

Ok. My only child, my daughter Suzie, is 25 years old. She was diagnosed at 11 years old. We just learned of her mutation about a year ago. We always knew one was the Delta 508. They have finally found the other but they said no one else has it. And it does not have an easy name. I will write it as it says on her chart: 869+1 869+4 delGTAA insACATTATT I had asked all of you previously but no one really knew. I am hoping now that somebody will recognize this or maybe give me some tips? I believe that Kalydeco would change her life, and her attitude about life! She is doing her last 3 days of Cayston and is coughing so hard, constantly clearing her throat, almost throwing up. I know you guys know what I am talking about. Somebody, anybody please help. Thank you! suziesmom(PRAYING)
Source: Cystic Fibrosis DNA and Mutations Forum - Category: Respiratory Medicine Authors: Tags: DNA and Mutations Source Type: forums

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Trikafta combines elexacaftor, ivacaftor, and tezacaftor for patients 12 years or older with CF and at least one F508del mutation in the CFTR gene.FDA Approvals
Source: Medscape Pharmacist Headlines - Category: Drugs & Pharmacology Tags: Pulmonary Medicine News Alert Source Type: news
‘Prime editing’ more precise than Crispr-Cas9, but still needs time before use on humansScientists have raised fresh hopes for treating people with genetic disorders by inventing a powerful new molecular tool that, in principle, can correct the vast majority of mutations that cause human genetic diseases.The procedure, named “prime editing”, can mend about 89% of the 75,000 or so harmful mutations known to mangle the human genome and lead to conditions such as cystic fibrosis, sickle cell anaemia, and a nerve-destroying illness called Tay-Sachs disease.Continue reading...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Gene editing Genetics Biology Science Source Type: news
The U.S. Food and Drug Administration approved Vertex Pharmaceuticals Inc's combination treatment for a rare condition called cystic fibrosis, the agency said on Monday.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
Boston-based Vertex Pharmaceuticals Inc. has achieved one of the biggest feats to date for cystic fibrosis patients — a treatment that could benefit 90 percent of patients with the rare lung disease. The FDA approved a combination of three drugs Monday called Trikafta, which targets a mutation in the F508del gene. That genetic error is found in approximately 90 percent of patients with the rare lung disease. "If you think about it, we went from being able to treat no patients to being able to…
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
BOSTON--(BUSINESS WIRE)--Oct. 21, 2019-- Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced the U.S. Food and Drug Administration (FDA) has approved Trikafta (elexacaftor/tezacaftor/ivacaftor and ivacaftor) for the treatment of...
Source: Drugs.com - New Drug Approvals - Category: Drugs & Pharmacology Source Type: news
CONCLUSION: A substantial proportion of infants diagnosed with CF after detection by NBS already showed evidence of lung disease. P. aeruginosa colonization was associated with increas ed Bhalla scores, highlighting the importance of this CF pathogen in early structural lung disease. The presence of bronchial wall thickening at such a young age may reflect the presence of airway inflammatory processes. The detection and quantification of structural abnormalities with the modified Bhalla score may aid in the identification of lung disease before it is clinically apparent.
Source: Clinics - Category: General Medicine Source Type: research
Review clinical reference information, guidelines, and medical news on cystic fibrosis--cystic fibrosis symptoms and cystic fibrosis treatment. Review causes of cystic fibrosis and cystic fibrosis carrier information.
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Resource Center Source Type: news
Condition:   Cystic Fibrosis Interventions:   Behavioral: Focus group;   Behavioral: Individual interview Sponsor:   Assistance Publique - Hôpitaux de Paris Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Pseudomonas aeruginosa (P. aeruginosa) is a common pathogen in the setting of lung transplantation.1 Most recipients become chronically colonized with P. aeruginosa. Previously we have demonstrated in a subgroup of patients with non-cystic fibrosis (CF) bronchiectasis who are chronically colonized with P. aeruginosa, the presence of high titres of IgG2 antibodies specific for the O-antigen of lipopolysaccharide (LPS) which impair serum-mediated killing of the cognate strain.2 In contrast to the serum bactericidal effect normally associated with antibody, this ‘inhibitory antibody’ prevented immune killing of the infecting strain.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: Case Anecdotes, Comments and Opinions Source Type: research
Authors: Paterson SL, Barry PJ, Horsley AR Abstract Introduction: Cystic fibrosis (CF) is a complex, multi-system, genetic disease affecting over 70,000 people worldwide. The underlying defect is a mutation in the CFTR gene. Dysfunctional CFTR protein results in abnormal anion movement across epithelial membranes in affected organs. There has been a paradigm shift in CF treatment over the last decade with the advent of CFTR modulation, treatments which target this underlying genetic defect and have the potential to change the course of CF clinical disease. Areas covered: Available CFTR modulators in current clinica...
Source: Expert Review of Respiratory Medicine - Category: Respiratory Medicine Tags: Expert Rev Respir Med Source Type: research
More News: Children | Cystic Fibrosis | Respiratory Medicine