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 rearrangements. They showed that the CF gene spans approximately 250,000 base pairs of genomic DNA. This was the first gene for a human disease discovered without a known protein sequence.

Order of authorship in the original publication: Rommens, Iannuzzi, et al..., Riordan, Tsui, Collins.

(Thanks to Juan Weiss for this reference and its interpretation.)

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 first described a deletion mutation DeltaF508  (ΔF508) that was detected in both CF clones, which would result in a ‘loss’ of a phenyalanine residue at position 508 in the CF polypeptide.

Order of authorship in the original publication: Riordan, Rommens, et al, Collins, Tsui.

(Thanks to Juan Weiss for this reference and its interpretation.)

The authors showed that mutations in lamin A (LMNA) are the cause of Hutchinson-Gilford progeria sundrom (HGPS). At the end of their abstract they stated that "The discovery of the molecular basis of this disease may shed light on the general phenomenon of human aging."

Digital facsimile from PubMedCentral at this link.
Order of authorship in the original publication: Eriksson, Brown, Gordon... Collins.

See Also:
Annachiara De Sandre-Giovannoli, Rafaelle Bernard, Perre Cau et al…..  "Lamin A truncation in Hutchinson-Gilford progeria," Science, 300, No. 5626, 2003, page 2055.  Digital facsimile from science.org at this link. This paper was accepted by the journal Science on the same day that the Collins paper was accepted by the journal Nature.

(Thanks to Juan Weiss for these references and their interpretation.)

Using the base editor enzyme developed by Liu (GM11865), the authors report that they can “correct the pathogenic HGPS mutation in cultured fibroblasts derived from children with progeria and in a mouse model of HGPS.” Their technique resulted in “87-91% correction of the pathogenic allele, mitigation of the resulting RNA mis-splicing, reduced levels of progerin and correction of the nuclear abnormalities.” Mice treated like this, exhibited “improved vitality and greatly extended median lifespan from 215 to 510 days.” At the end they added that “these findings demonstrate the potential of in vivo base editing as a possible treatment for HGPS and other genetic diseases by directly correcting their root cause.”

Digital facsimile from PubMedCentral at this link. Order of authorship in the original publication: Koblan, Erdos, Wilson....Collins..Liu.

(Thanks to Juan Weiss for this reference and its interpretation.)