The present invention is related to novel methods for diagnosing and treating acute pulmonary exacerbation in subjects in need thereof.

A combination therapy including a modulator of the function (potentiator) of cystic fibrosis transmembrane conductance regulator (CFTR) protein, and one or two modulator(s) of the cellular processing and/or localization molecule (correctors) is provided in a method for treating cystic fibrosis in a subject having a mutation located between the amino acid residues 1164-1480 of full length wild-type CFTR.

A corrector agent capable of stabilizing a newly synthesized cystic fibrosis transmembrane conductance regulator (CFTR) protein, useful in the treatment of cystic fibrosis.

The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.

The present invention relates to detecting cleavage activity of an enzyme. The various aspects of the invention include an enzyme detection device, kit, method and use for detecting or measuring the presence in a test sample of the activity of an enzyme capable of cleaving a substrate. The invention also relates to indicator and binding molecules useful for carrying out the invention. The enzyme substrate contains a hidden binding site which is only revealed upon cleavage by the enzyme.

The present disclosure provides, inter alia, a recombinant engineered deubiquitinase (DUB) and methods for treating or ameliorating an inherited ion channelopathy, such as long QT syndrome, Brugada syndrome, or cystic fibrosis, in a subject. Further provided are methods for screening mutations causing such inherited ion channelopathies for a trafficking-deficient mutation that is treatable by the recombinant engineered DUB disclosed herein.

The present disclosure provides, inter alia, a recombinant engineered deubiquitinase (DUB) and methods for treating or ameliorating an inherited ion channelopathy, such as long QT syndrome, Brugada syndrome, or cystic fibrosis, in a subject. Further provided are methods for screening mutations causing such inherited ion channelopathies for a trafficking-deficient mutation that is treatable by the recombinant engineered DUB disclosed herein.

The present disclosure provides, inter alia, a recombinant engineered deubiquitinase (DUB) and methods for treating or ameliorating an inherited ion channelopathy, such as long QT syndrome, Brugada syndrome, or cystic fibrosis, in a subject. Further provided are methods for screening mutations causing such inherited ion channelopathies for a trafficking-deficient mutation that is treatable by the recombinant engineered DUB disclosed herein.

Disclosed herein are methods for detecting protein expression in an individual diagnosed with cystic fibrosis. The methods, in certain aspects, include the steps of obtaining a sample from said individual and detecting expression in said sample of each protein of a protein set. The method may further include the step of determining expression level of one or more proteins of the protein set. The disclosed methods may be used to predict one or more clinical parameters in an individual having cystic fibrosis.

Provided herein are flexible, microfluidic epidermal systems and methods useful in the analysis of biofluids for biomarkers corresponding to a variety of conditions and methods of use. The provided systems configured to create conformal contact with the skin to allow for medical testing or screening, either in situ or later external laboratory testing. The described devices and methods may be used for cystic fibrosis screening, glucose monitoring, drug and/or alcohol testing, creatinine monitoring, urea monitoring, pH measurement and dialysis treatment efficacy testing.