The newly-tested treatment for progeria slows down the effects of the disease at the cellular level and in the visible symptoms. Pictured here is a child with progeria, and images of cell mutation from the Public Library of Science.
Last month the Progeria Research Foundation announced the discovery of the first viable progeria treatment. Michael Glynn, a native Darien resident, was part of the effort to find the cause of the disease.
Hutchinson-Gilford Progeria is a rare and devastating disease that causes accelerated aging in children. The disease is fatal and most children die from a stroke around the age of 13, Glynn said. The new treatment is not a cure but was proven to improve weight, hearing, bone structure and blood vessel flexibility, according to the Progeria Research Foundation.
Glynn, who grew up in Darien but moved to Michigan for his PhD, worked with Dr. Thomas Glover, human genetics professor and member of the volunteer medical research committee of the Progeria Research Foundation.
“I started researching progeria when I went to the University of Michigan to get a PhD in human genetics,” he said. They started a project to find the gene responsible for progeria. It required a cell sample from a progeria patient at the university and funding. The disease does not run in families and is extremely rare, he said. Their lab at the University of Michigan recieved a grant from the foundation several times starting in 2001. The effort to find the mutated gene responsible for the disease was successful.
“It’s just a needle in a very large haystack, especially in this case, when there’s one single letter in a genetic code that’s changed in all of these patients,” he said. The human genome, with 36 chromosomes, has 3 billion bases, or letters to search through.
In 2005, the various labs started testing a farnesyltransferase inhibitors drug, formerly tested as a cancer treatment, to slow down the symptoms of aging. Dr. Leslie Gordon, assistant professor at Brown University Medical school and medical director at the foundation, was key in bringing the efforts together.
A group of 28 children, who made up 75% of progeria patients, took the inhibitor drug, also known as lonafarnib, for two and a half years, according to the research foundation. The drug was already established as safe, which made the process move faster, Glynn said.
Gordon’s story is “one of the most amazing,” Glynn noted because Gordon’s son was diagnosed with progeria at the age of 2, and it became her project. Glynn also had some inspiration that came from his childhood.
“I have, for as long as I can remember, had a love for science,” Glynn said, “which I’m sure came from my father, Michael Glynn, Sr. Science was a part of daily life in our house growing up.” Glynn went to Holmes School and recalls several motivational teachers, including recently retired Dr. Anthony Timpanelli, formerly principal of Hindley.
“While it’s not exactly science,” Glynn said of elementary science experiments, “it is the type of exercise that requires real thought, creativity and planning, which are the keys to being a successful scientist.”
Whereas some genetics projects can take lifetimes, the scientists working on progeria were able to find a gene and a treatment in about a decade. “The remarkable thing is that it was successful,” Glynn said. “in a remarkably short period of time.”
Glynn attributed the success to the various labs working simultaneously, help from Pfizer, and grants including one from the Progeria Research Foundation. He described Leslie Gordon, the foundation’s medical director, as a coach.
“No one does this stuff alone,” he said. “We keep moving that ball down the field.”
Glynn returned to Darien when he decided that doctoral work was not for him. When returned to the town with his family, Glynn had an opportunity to study law and work for Kenyon & Kenyon.
His legal opinion about the treatment is that it has little monetary value. There are only 96 cases identified internationally, according to the progeria foundation. Researchers working with the patented genes he helped to discover may find more compensation in studying aging through progeria.
“If the treatment is effective for all humans, aging patients like these become especially relevant,” he said. “Once real money is involved it becomes complicated.”
More info: progeriaresearch.org
