What's Progeria?
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is an extremely rare genetic disorder where symptoms resembling aging are manifested at a very early age. Progeria is one of several progeroid syndromes such as Wiedemann-Rautenstrauch syndrome or Werner syndrome. The disorder has a very low incidence rate, occurring in an estimated 1 per 8 million live births. Those born with progeria typically live to their mid-teens to early twenties. It is a genetic condition that occurs as a new mutation in the LMNA gene, and is rarely inherited, as patients usually do not live to reproduce.
The disease affects both sexes and all races equally. The LMNA gene mutation causes it to express an abnormal protein. When cells use this protein, called progerin, they break down more easily. Progerin builds up in many cells of kids with progeria, causing them to grow old quickly.
Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging. Children with progeria live very normal lives and the only aspects that prevent them from doing anything “normal” is their height and issues with stiff joints. Progeria was first described in 1886 by Jonathan Hutchinson. It was also described independently in 1897 by Hastings Gilford. The condition was later named Hutchinson–Gilford progeria syndrome. Unlike many genetic mutations, progeria isn’t passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the child’s genes are new (de novo).
The disease affects both sexes and all races equally. The LMNA gene mutation causes it to express an abnormal protein. When cells use this protein, called progerin, they break down more easily. Progerin builds up in many cells of kids with progeria, causing them to grow old quickly.
Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging. Children with progeria live very normal lives and the only aspects that prevent them from doing anything “normal” is their height and issues with stiff joints. Progeria was first described in 1886 by Jonathan Hutchinson. It was also described independently in 1897 by Hastings Gilford. The condition was later named Hutchinson–Gilford progeria syndrome. Unlike many genetic mutations, progeria isn’t passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the child’s genes are new (de novo).
Progeria Research FoundationThe pain of knowing your child has an incurable disease is indescribable, but thanks to The Progeria Research Foundation (PRF), there is hope.
The Progeria Research Foundation (PRF) is the only non-profit organisation solely dedicated to finding treatments and the cure for Progeria, and is realising these goals at a remarkable pace: from total obscurity, to gene discovery, to first-ever Progeria clinical drug trials, to the discovery of the very first drug treatment – all in just 13 years! We are lucky to count on the PRF for working hard to find the cure. There are more than 4000 rare diseases and more than 50% of them don’t have a foundation that seeks to find a treatment or a cure. Thanks to the PRF, in less than one year from diagnosis, Enzo was able to start his treatment and traveled to Boston for his first trial visit. We are extremely happy and thankful for all the people at PRF that made this happen. Together we will find the cure! |
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