2026-07-21T10:30:55Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/124622024-09-27T08:16:15Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
Gordon, Leslie B
author
Tuminelli, Kelsey
author
Andres, Vicente
author
Campisi, Judith
author
Kieran, Mark W
author
Doucette, Lynn
author
Gordon, Audrey S
funder
Progeria Research Foundation
funder
Associazione Italiana Progeria Sammy Basso
2021-03-30T07:58:20Z
2021-03-30T07:58:20Z
2021-03-17
Aging. 2021; 13: Advance
10.18632/aging.202835
1945-4589
Aging
33735109
http://hdl.handle.net/20.500.12105/12462
Progeria is an ultra-rare (prevalence 1 in 20 million), fatal, pediatric autosomal dominant premature aging disease caused by a mutation in the LMNA gene. This mutation results in accumulation of a high level of an aberrant form of the nuclear membrane protein, Lamin A. This aberrant protein, termed progerin, accumulates in many tissues and is responsible for the diverse array of disease phenotypes. Children die predominantly from premature atherosclerotic cardiovascular disease. The Progeria Research Foundation's 10th International Scientific Workshop took place via webinar on November 2 and 3, 2020. Participants from 30 countries joined in this new, virtual meeting format. Patient family presentations led the program, followed by updates on Progeria's first-ever application for FDA drug approval as well as initial results from the only current Progeria clinical trial. This was followed by presentations of unpublished preclinical data on drugs in development targeting the disease-causing DNA mutation, the aberrant mRNA, progerin protein, and its downstream effector proteins. Tying bench to bedside, clinicians presented new discoveries on the natural history of disease to inform future clinical trial development and new Progeria aortic valve replacement procedures. The program engaged the Progeria research community as a single unit with a common goal - to treat and cure children with Progeria worldwide.
eng
The progeria research foundation 10th international scientific workshop; researching possibilities, ExTENding lives - webinar version scientific summary.
journal article
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URL
https://repisalud.isciii.es/bitstreams/4de109a6-cec0-49f2-99b9-dca710862de4/download
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TheProgeriaResearchFoundation_2021.pdf
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https://repisalud.isciii.es/bitstreams/ada04d0d-29b7-45e6-afb1-30846bda2415/download
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text/plain
TheProgeriaResearchFoundation_2021.pdf.txt