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
2013 PAUL, Diane B.; BROSCO, Jeffrey P.
The PKU paradox: A short history of a genetic disease.
GMN 13532 · https://historyofmedicine.com/id/15809
2015 CAMPOS, Luis A.
Radium and the secret of life.
GMN 9195 · https://historyofmedicine.com/id/11376
2016 SOMMER, Marianne (1971 – )
History within: The science, culture, and politics of bones, organisms, and molecules.
GMN 8539 · https://historyofmedicine.com/id/10716
2016 MUKHERJEE, Siddhartha (1970 – )
The gene: An intimate history.
GMN 9617 · https://historyofmedicine.com/id/11804
2018 REICH, David (1973 – )
Who we are and how we got here: Ancient DNA and the new science of the human past.
GMN 10145 · https://historyofmedicine.com/id/12334
2021 FRANGOUL, Haydar A.; ALTSHULER, David Matthew (1964 – ); CAPPELLINI, Maria Domenica; ET AL
CRISPR-Cas9 gene editing for sickle cell disease and ß-thalassemia.
First application of CRISPR gene editing in the successful cure of diseases. Order of authorship in the original publication: Frangoul, Altshuler, Cappellini. (Thanks to Juan Weiss for this reference and its interpret…
GMN 13478 · https://historyofmedicine.com/id/15752
2021 LIU, David Ruchien (1973 – ); COLLINS, Francis Sellers (1950 – ); KOBLAN, Luke W.; ERDOS, Michael R.; WILSON, Christopher; ET AL
In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice.
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.…
GMN 14218 · https://historyofmedicine.com/id/16535
2022 KORZH, Vladimir P.; GASANOV, Eugene V.
Genetics of atavism.
Abstract: "Atavisms have attracted people’s attention for a long time. First, atavisms excited their imagination and created fertile ground for myths and superstitions. With the development of science, atavisms became…
GMN 14107 · https://historyofmedicine.com/id/16418
12963 PAULING, Linus Carl (1901 – 1994); ZUCKERKANDL, Émile (1922 – 2013)
Chemical paleogenetics: Molecular "restoration studies' of extinct forms of life.
Coinage of the term "paleogenetics" in what may be the first publication on the possibility of reconstructing extinct life forms through molecular biology. "Attention is attracted to the possibility of reconstructing …
GMN 14368 · https://historyofmedicine.com/id/16700