Brief history of progeria research
Progeria was first described medically by Jonathan Hutchinson in 1886 and later by Hastings Gilford in 1897, doctors after whom it was named. Certainly, since progeria is caused by a random mutation in the genome, and since research has not shown any specific correlation between the environment and the incidence of progeria, we can be sure that it is not a disease that appeared in the last years of the 19th century, but rather a disease that has always existed, but of which there are no accurate records or sources describing it.
However, after being described in the late 19th century by the two British doctors, no progress was made on the study of the disease, except for the increasingly detailed collection of symptoms, until the end of the 20th century. A few months after Sammy's birth, in 1996, Sam Berns was born in the United States of America, apparently healthy, but soon discovered to have progeria. His parents, Leslie Gordon and Scott Berns, both doctors, together with their aunt Audrey Gordon and the rest of their family and friends, founded the Progeria Research Foundation (PRF) in 1999, with the aim of discovering the causes of progeria and, above all, to find a way to cure their son and all the other children and young people with progeria (there were only 45 recognised at the time). In the year 2000, with the mapping of the human genome, progeria research underwent a decisive breakthrough, which was only the first step of all the research that was to come later: far exceeding all expectations in terms of timing, it was discovered in 2003 that the gene that causes progeria is the LMNA gene when mutated at a precise locus.
From this result, the PRF began to investigate how the mutation in the LMNA gene causes progeria at the molecular level, shedding light on a weighty and fascinating disease that in a short time has shown incredible complexity and has therefore become a model disease for many other issues such as ageing in general, cancer and others.
In 2007, the PRF had already set up a first clinical trial where a drug was tested on children with progeria, which was followed by others, along with an incredible amount of basic research on this disease, carried out in different countries around the world.
