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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. …

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GeneticsLiving With CFTreatments

DNA ‘cages’ deliver drugs with zap of light

Very interesting article relating to drug delivery via ‘dna cages’. Getting drugs to go just where you want them inside the human body is no easy task, and using high doses of chemicals that are carried by the bloodstream to the wrong tissues or organs can lead to toxic side …

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GeneticsLiving With CFResearch

When a Bad Animal Model is Good: Cystic Fibrosis

A “good” animal model is one that has the same symptoms of a disease that we do, right? Not always. Sometimes we can actually learn more when an animal is not a perfect model; their good health can reveal new points of intervention. That’s the case for cystic fibrosis (CF), …

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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 …

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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 …

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GeneticsLiving With CFResearchVideo

Genome editing with CRISPR-Cas9

This video explains how research in genome editing may help treat genetic diseases like CF in the future.

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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 …

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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 …

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