The heartfelt story of children with a rare disease received widespread attention this week once researchers found that a drug called rapamycin, an immunosuppressant drug, could treat Hutchinson-Gilford progeria syndrome, or Progeria, according to a recent study published in Science Translational Medicine.
Children diagnosed with progeria, appear healthy at birth, but begin to show signs of the condition, including a lower than average height and weight for their age, disproportionate figure and larger-sized head for their face, hair loss, and hardening of the skin and stiff joints.
The disease is caused by a protein called progerin that accumulates in cells much faster than the average rate, but researchers cite that rapamycin, which has only been tested in Petri dishes, slowed and even stopped progression of the disease within an individual's cells.
Part of the problem with aging starts when debris is accumulating in the cells and it's not getting removed, and this particular drug is able to enhance the removal process, Dr. Dimitri Krainc, a neurologist at the Massachusetts General Hospital who led the study, told ABC News. It would be too optimistic to say this could completely cure Progeria patients, but we're hoping that this drug could make these kids live longer with fewer complications.
Currently, the average lifespan of a Progeria patient is 13 years old.
Dr. Francis Collins, director of the National Institutes of Health, is one of the authors of the study and told CNN that roughly 30 years ago he had a young progeria patient. Once he realized there was not much that he could do to save his patient, he decided to look into possible solutions for the disease, Collins said. It was compelling to try to understand why someone's body is melting away in the ravages of age, he added. You couldn't be involved without marveling at it and wanting to do something to understand the situation.