1936 FANCONI, Guido (1892 – 1979); ET AL

Das Coeliakiesyndrom bei angeborener zysticher Pankreasfibromatose und Bronchiektasien.

Cystic fibrosis (mucoviscidosis) described. With E. Uehlinger and C. Knauer.

GMN 3659.2 · https://historyofmedicine.com/id/4793

1938 ANDERSEN, Dorothy Hansine (1901 – 1963)

Cystic fibrosis of the pancreas and its relation to celiac disease: A clinical and pathological study.

Andersen was the first to describe the characteristic cystic fibrosis of the pancreas, and to correlate it with the lung and intestinal disease prominent in CF. She also was the first to hypotheize that cystic fibrosi…

GMN 13827 · https://historyofmedicine.com/id/16117

1989 ROMMENS, Johanna M.; IANNUZZI, Michael C.; RIORDAN, John Richard (1943 – ); COLLINS, Francis Sellers (1950 – ); TSUI, Lap-Chee (1950 – ); ET AL

Identification of the cystic fibrosis gene: Chromosome walking and jumping.

Utilizing the chromosome "walking and and jumping" technique developed by Collins, the authors showed how they cloned the cystic fibrosis locus on the basis of its chromosomal location without the benefit of genomic r…

GMN 13568 · https://historyofmedicine.com/id/15846

1989 ROMMENS, Johanna M.; RIORDAN, John Richard (1943 – ); COLLINS, Francis Sellers (1950 – ); TSUI, Lap-Chee (1950 – ); ET AL

Identification of the cystic fibrosis gene: Cloning and characterization of complimentary DNA.

The authors first published a ‘map’ of the cystic fibrosis (CF) gene and on p. 1071, they published an illustration/schematic model of the predicted CFTR (cystic fibrosis transmembrane conductance regulator). They fir…

GMN 13569 · https://historyofmedicine.com/id/15847

1989 ROMMENS, Johanna M.; TSUI, Lap-Chee (1950 – ); KEREM, Batsheva (1955 – ); ET AL

Identification of the cystic fibrosis gene: Genetic analysis.

The authors demonstrated that about 70% of the crucial mutation in cystic fibrosis (CF) patients corresponds to the specific deletion of 3 base pairs, which results in the loss of a phenylalanine residue at A.A. posit…

GMN 13570 · https://historyofmedicine.com/id/15848

2011 NEGULESCU, Paul A.; VAN GOOR, Frederick; HADIDA, Sabine; GROOTENHUIS, Peter D. J. (1960 – 2019); ET AL

Correction of the 508del-CFTR protein processing defect in vitro by the investigational drug VX-809.

Negulescu and colleagues published a "proof of concept" experiment showing that the novel molecule called VX-809 could correct in vitro the very common and critical 508del-CFTR mutation identified by Collins. (See GM …

GMN 13571 · https://historyofmedicine.com/id/15849