The Progeria Research Foundation: its remarkable journey from obscurity to treatment

Introduction: Hutchinson-Gilford progeria syndrome (Progeria) is an ultra-rare premature aging syndrome that affects children worldwide and causes death at an average age of 14.6 years due to an accelerated form of athersclerosis leading to heart attacks and strokes. Areas Covered: Like many rare disease research and patient advocacy organizations, The Progeria Research Foundation (PRF) was formed by an affected child's parents, who saw the complete lack of attention to the disease and refused to accept that there was nothing they could do for their child. Fast forward 15 years, and that lack of attention has been transformed into worldwide recognition of Progeria, a first-ever treatment that improves vascular stiffness and estimated patient survival, and Progeria seated in the forefront of scientific efforts to discover additional treatments and a cure. Much of this extraordinary progress is due to PRF's comprehensive programs and services, all of which are steadfastly mission-focused. Expert Opinion: It is our hope that the description of the PRF programs and services that follows, along with an account of how they are helping PRF accomplish its mission to save children with Progeria, will assist and inspire others to take similar action for the many rare disease populations that need immediate attention.