GeneticsLiving With CFResearchTechnology

Radio Interview: CRISPR Gene Editing (relevant to Cystic Fibrosis genetics)

“There has never been a more powerful biological tool or one with more potential to both improve the world and endanger it.” For an in-depth look at the progress being made and the potential of CRISPR, the gene editing tool, listen to this radio interview on National Public Radio. Cystic …

Clinical TrialsGeneticsLiving With CF

CRISPR Finds Mutated DNA and Is Okayed for Clinical Trial

Since 2003, when we first started saving all our messages here at CysticFibrosis.com, Cystic Fibrosis genetics and our mutations have always been a hot topic. At first, we didn’t even know our genetics could be tested, because the sweat test was the gold standard for diagnosis. Then came Ambry Genetics. …

GeneticsLiving With CFNews & EventsResearch

SuperHero DNA

Study finds individuals immune to severe diseases. A new study has found that certain people’s genes have evolved in such a way that they are immune to certain severe inherited conditions. The study involved the analysis of previously collected DNA sets totaling 589,306 genomes from around the world with researchers hoping …

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DiagnosisFAQsGeneticsLiving With CF

Cystic Fibrosis testing: Genetic and Rare Diseases Information Center

The National Institutes of Health (NIH) publishes up-to-date information about cystic fibrosis testing on its Genetic and Rare Disease Information Center webpage (GARD). This is their FAQ about testing and resources. It discusses what situations warrant genetic testing, what tests are available and how much they cost, and how to …

GeneticsLiving With CFRespiratory DiseaseTreatments

How cystic fibrosis promotes lung infections

From the NIH At a Glance Scientists discovered how cystic fibrosis raises the risk for lung infections. The findings also identify a novel potential therapeutic target. Cystic fibrosis is an inherited disorder that results in a buildup of thick and sticky mucus in the lungs, airways, and other organs. Excess …

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GeneticsLiving With CFResearchTreatments

Trial results of Ivacaftor in Cystic Fibrosis children ages 2-5

Results are out from a two part study involving children ages 2-5 with at least one gating mutation trying Ivacaftor (a medication used in Cystic Fibrosis treatment) From the Lancet Respiratory Journal, 20 January 2016 Ivacaftor has been shown to be a safe, effective treatment for cystic fibrosis in patients …

DiagnosisFAQsLiving With CFResources

Newly Diagnosed: What is Cystic Fibrosis

What is Cystic Fibrosis and how are genetics involved? This article shares some helpful information if you are newly diagnosed. Written by Aboveallislove Introduction Welcome to CysticFibrosis.com. If you are new to Cystic Fibrosis because you recently learned your unborn or newborn baby has, or may have, Cystic Fibrosis, please …

FAQsGeneticsLiving With CFResources

Cystic Fibrosis testing: Genetic testing and sweat test

Written by LightNLife and Ambry Genetics updated by Melissa75   How many different CF mutations are there? More than 2000 and new ones being added all the time. http://www.genet.sickkids.on.ca/cftr/StatisticsPage.html What is meant by a “panel” test? A panel tests for a predefined number of mutations. It’s possible that a panel …

GeneticsLiving With CFResearch

Cystic Fibrosis genetics: Know Your CF Mutations

Source: CFF.org For the first time, drugs are available that treat the underlying cause of the disease in people with certain cystic fibrosis mutations. As new therapies targeting specific mutations of Cystic Fibrosis genetics are developed and become available, it will be increasingly important to know your mutations so you …