Review Volume 13, Issue 6 pp 9143—9151
The progeria research foundation 10th international scientific workshop; researching possibilities, ExTENding lives – webinar version scientific summary
- 1 Department of Pediatrics, Division of Genetics, Hasbro Children’s Hospital and Warren Alpert Medical School of Brown University, Providence, RI 02903, USA
- 2 Department of Anesthesiology, Perioperative and Pain Medicine, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA
- 3 The Progeria Research Foundation, Peabody, MA 01961, USA
- 4 Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid 28029, Spain
- 5 Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid 28029, Spain
- 6 Buck Institute for Research on Aging, Novato, CA 94945, USA
- 7 Biosciences Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA
- 8 Invited Expert, Yardley, PA 19067, USA
Received: January 13, 2021 Accepted: February 19, 2021 Published: March 17, 2021https://doi.org/10.18632/aging.202835
How to Cite
Copyright: © 2021 Gordon et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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 This was followed by presentations of unpublished preclinical data on drugs in development targeting the disease-causing DNA mutation, the aberrant mRNA, progerin protein, and its downstream effector proteins.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.