1886 HUTCHINSON, Sir Jonathan (1828 – 1913)

Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six.

First description of progeria.

GMN 3790 · https://historyofmedicine.com/id/4710

2003 COLLINS, Francis Sellers (1950 – ); ERIKSSON, Maria; BROWN, William Ted; GORDON, Leslie Beth; ET AL

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

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 …

GMN 14217 · https://historyofmedicine.com/id/16533

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