Progeria
Progeria is a rare genetic disease that causes children to age faster than usual. According to an article by Christian Nordqvist, “The condition is extremely rare, affecting around 1 in every 4 million children”. Signs of progeria are not noticed until the age around two. Progeria, also known as Hutchinson-Gilford progeria syndrome, is caused by a gene mutation. “Most children with progeria have a mutation on the gene that encodes for lamin A, a protein that holds the nucleus of the cell together” (Nordqvist). The defective protein makes the nucleus unstable, making the cell more likely to die younger. This creates indications of progeria.
Even though a parent does not have progeria, the mutation may still be present. Genetic testing can indicate if …show more content…
The children ventured to Boston every four months to receive comprehensive medical testing and study medications through Boston Children’s Hospital’s Clinical and Translational Study Unit. Everyone received oral lonafarnib, an FTI supplied by Merck & Co., twice-a-day for two years. "No one had ever conducted a clinical treatment trial for Progeria before. We discovered that, among other things, the major blood vessels can actually improve. This was a breakthrough discovery for the children, since accelerated cardiovascular disease is the cause of death in Progeria. Though there is no way to know whether we have delayed strokes, heart attacks, or increased longevity within just a 2-year treatment period, these positive results compel us to continue pushing for new treatments until we accomplish what we set out to do in 1999. We want children with Progeria to live until they’re 80 and beyond. We want them to live full, healthy lives," said Dr. Gordon, PRF’s Medical Director and first author of the treatment discovery