Looking for clues to understand and treat progeria

The answers to many childhood diseases may be held deep within our cells. Dr. William Stanford, a stem cell researcher at the University of Toronto and co-Director of the Ontario Human iPS Facility, has been looking at the mechanisms that determine whether and how a stem cell will differentiate in hopes of finding treatments for a range of muscular and blood diseases. In a recent presentation at the Ottawa Hospital Research Institute, Dr. Stanford discussed his research surrounding Hutchinson-Gilford progeria syndrome [HGPS], a disorder that occurs in roughly one per eight million births.

As Dr. Stanford describes the disease:

“[HGPS] is the prototypical progeroid syndrome, where patients are born undistinguishable in the first year of life from normal children, but somewhere between age one and two years of age, they start developing this rapid aging disorder. [The]… median age of death is age 13, although a patient died just this past year at the age of 18, so they can live longer.”

HGPS has been shown to be linked to cellular mutation caused the cell’s inability to produce a protein known as lamin A. By aging cells in vitro, Dr. Stanford and his research team are trying to better understand the molecular triggers that regulate aberrant splicing of lamin A, which will enable them to “develop drug targets to establish a directed small molecule screen” and address the affected genetic material head-on.  The goal is to restrict the damage that’s done by the disease and slow down the progression of the disease, if not holding off the disease indefinitely. Dr. Stanford’s work is funded by the Progeria Research Foundation (PRF) and he will be presenting his latest findings a the PRF’s 10th Anniversary Workshop in April 2010.

More broadly, Dr. Stanford hopes that his work in HGPS will provide valuable information about cell networks that can be applied to other illnesses. “One of the reasons we are studying rare diseases is to pull them apart and to apply what we’ve learned to other, more common, diseases.”

About HPGS: The disease is characterized by aging of the skin, hair and fatty tissue loss, atherosclerosis and cardiovascular disease. Although HPGS disease is rare, many children affected by it have been brought together by the PRF for clinical drug trials, and some have personal web sites documenting how they and their families go about their daily lives dealing with progeria.