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DiagnosisGeneticsLiving With CF

New Guidelines for CF Diagnosis

New Guidelines for CF Diagnosis A group of 32 scientists from nine countries have updated the guidelines for CF diagnosis. They published an article last month in The Journal of Pediatrics and the synopsis can be found here in Science Daily. The scientists looked at data from people with CF …

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GeneticsLiving With CFResearchTechnology

Radio Interview: CRISPR Gene Editing

“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 …

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GeneticsLiving With CFResearch

First Structural Map of Cystic Fibrosis Protein

First structural map of cystic fibrosis protein sheds light on how mutations cause disease Scientists from Rockefeller University have created the first three-dimensional map of the protein responsible for cystic fibrosis, an inherited disease for which there is no cure. This achievement offers the kinds of insights essential to better …

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GeneticsLiving With CFNews & EventsVideo

Rare Disease Patient Advocacy Summit

Later this week, Jeanne Barnett will be attending the fifth annual RARE Patient Advocacy Summit run by Global Genes in Huntington Beach, California. The goal of this year’s RARE Patient Advocacy Summit is for patients, caregivers, and advocates to walk away equipped with actionable next steps whether you have been …

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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, 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. We learned …

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GeneticsLiving With CFTreatments

DNA ‘cages’ deliver drugs with zap of light

  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 effects. That’s why scientists have been working for years …

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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

Genetic and Rare Diseases Information Center

The National Institutes of Health (NIH) publishes up-to-date information about testing for cystic fibrosis 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 …

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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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