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Current Screening Methods Miss CFTR Mutations in Certain Ethnic Groups

Rare mutations in the CFTR gene — which is defective in patients with cystic fibrosis (CF) — may occur in specific ethnic groups, suggests a new study that urges wider screening of mutations in patients who test negative for most previously identified mutations linked to CF. The study, “A rare CFTR mutation associated with severe disease progression in a 10‐year‐old Hispanic patient,” appeared in the journal Clinical Case Reports. Mutations, or permanent alterations within the DNA sequence, in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene eventually produce a defective CFTR protein. This leads to the buildup of thick, sticky mucus which damages several organs, especiall

The 1st Middle East CF Conference Muscat, Oman

The First Middle East Cystic Fibrosis Conference, organized by the Middle East Cystic Fibrosis Association, in collaboration with the College of Medicine and Health Sciences-SQU, and Oman Respiratory Society, will be held in Al Bustan Palace Hotel, Muscat, from 2 to 3 February 2017, under the patronage of HE Dr. Ali bin Talib Al Hinai, Undersecretary at the Ministry of Health for Planning. Cystic fibrosis is an inherited disease that affects many organs in the body and the child will be affected only if both of his/her parents carry the abnormal mutation (CFTR). The symptoms of the disease appear early in the infant life in the form of failure to gain weight and chronic diarrhea. Also, it a

International Experts Update Guidelines for Cystic Fibrosis Diagnosis

An international group of experts has updated the guidelines for the definite diagnosis of cystic fibrosis (CF), which will help clinicians make a correct diagnoses and offer personalized therapies to their patients. The article with the updated guidelines, “Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses,” was published in The Journal of Pediatrics. Two supplemental articles on the data used to create the new guidelines and their implications were also published in the same journal. Cystic fibrosis is a genetic disease characterized by persistent lung infections and difficulty in breathing due to a build-up of mucus in the lungs.

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