Doctor insights on:
Cystic Fibrosis Gene Carrier Symptoms
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
Autosomal recessive: CF is an autosomal recessive genetic disorder. Complete expression of the disease (symptoms) do not typically occur in people who do not have both copies of the defective gene (carriers only have one). ...Read more
What are the chances of passing on the Cystic Fibrosis gene if only one parent is a CARRIER? Other parent not a carrier.
Is there a resource out there that discusses the different cystic fibrosis gene mutations & which symptoms are associated with each one?
Http://www. Cff. Org/
Try this one!
Did genetic testing - was told at 43 - I have 2 cystic fibrosis variants- never had any symptoms. They can't tell if in trans or cis Even though possible, how common is it to have 2 mutations in cis. I am awaiting mother's results for confirmation?
CF gene mutations: There are currently more than 1900 mutations that are known to cause cf. About 70% of CF pts in us have deltaf508 mutation, as 1 in every 25 persons is a carrier for this mutation. All these mutations result in abnormal activity of a protein called cftr which causes all the CF related problems. Genetic testing can give the specific mutation each pt has. Talk to your local CF center. ...Read more
Lung Function: The gene itself will not affect tuberculosis. However, if an individual receives 2 recessive genes of the cftr mutation from their parents, they will develop cystic fibrosis (cf). Because CF can lead to repeated bacterial lung infections (among other things), the lungs would already be in a weakened state if exposed to the causative agent of tuberculosis. This might lead to faster disease onset. ...Read moreSee 1 more doctor answer
No: Cystic fibrosis (CF) is a genetically inherited disease, so CF or cf-related disease (atypical cf, crms) rely on having at least 1 inherited gene. The other part of CF diagnosis is having an elevated sweat chloride. It is possible to have a positive sweat chloride due to other circumstances (thyroid imbalance, trisomy 21), but without CF genetics, there cannot be a diagnosis of cf. ...Read more
Me and my partner both carry cystic fibrosis genes. How do we be sure to have a child without cystic fibrosis?
Not available yet: Gene therapy is not available for cystic fibrosis (CF) yet (2012). Having said that, the underlying concept is that since CF is a genetic disease (meaning there is a defect in a gene), by repairing that defect through gene therapy, one can, hopefully, cure the disease. ...Read moreSee 1 more doctor answer
Trials: Clinical trials for genetic therapy are underway. As of this time there is no approved method for gene tx in cf. Kalydeco, (ivacaftor) a new drug, dose reverse the effects of one subtype of cf, but it dose so by aiding the damaged sodium-chloride transporter to get in proper position and function normally. ...Read moreSee 1 more doctor answer
No and yes: Safe effective gene therapy for CF is a dream that we have yet to realize, but there are many excellent CF centers in the us. The CF foundation is an excellent source of information on these centers. The treatments for CF are improving, and expanding constantly. The life expectancy for patients with CF has steadily increased but is still limited by pulmonary disease. ...Read more
Cure: Depending on the type of gene therapy, gene therapy can be a cure, if the underlying genetic problem is corrected. Of course, any damage done to the body by the disease up to that point may, or may not be, reversible. ...Read more