Progeria, aging and translational medicine: from obscurity to treatment trials and beyond
Leslie B. Gordon, MD, PHD
Hutchinson-Gilford progeria syndrome (Progeria) is a rare segmental premature aging syndrome that affects 200-250 children worldwide at any one time. It is caused by a mutation in the LMNA gene, whose normal lamin A protein product is central to nuclear structure and function in differentiated cells. The global expression of lamin A, and hence the aberrant protein produced in Progeria called progerin, results in a multisystem disease. Children with Progeria die of global, accelerated atherosclerosis at an average age of 13 years.
Overall, The Progeria story is not unlike that of the RASopathies, or many other rare genetic diseases whose affected populations could benefit from exponential increases in attention. This session is intended to relate the story of how the field of Progeria has traveled from practical obscurity towards the center of what we hope will be a translational medicine success story. The story of Progeria demonstrates the absolute need for a multipronged approach to solving the most challenging of life’s problems – curing a rare genetic disease.