The late Sylvester Sanfilippo, M.D. earned international recognition in 1963 for identifying a rare, fatal childhood disease, and in the process helped pediatricians around the world diagnose children whose behaviors and features were unexplainable. The discovery he made more than 50 years ago is a genetic disorder now called Sanfilippo syndrome (MPS III); and as modern medicine marched on, with the mapping of the human genome, and then advances in enzyme replacement therapies and protein engineering, Sanfilippo lived long enough to see a potential path to a cure.
Growing up in Rochester, N.Y., Sanfilippo expressed an early interest in the sciences, and took to heart his Sicilian parents’ mantra that “education was key to success.” After graduating from the University of Rochester in 1947 with a bachelor of science degree, Sanfilippo and his wife headed west to the University of Utah. While there Sanfilippo earned a master’s degree in biochemistry and then his medical degree. He did his pediatric training at the University of Minnesota, where later a postdoctoral research fellowship enabled Sanfilippo to begin studying children with mucopolysaccharide storage disease. During this time he also entered the private practice of pediatrics in Richfield, MN, and lectured at the University of Minnesota Medical School.
At the 1963 annual meeting of the American Pediatrics Society, Sanfilippo presented three years of research. He described how a missing essential enzyme can cause an accumulation of an unbroken sugar in the brains and bodies of children, leading to mental retardation, loss of speech, dementia, and ultimately death. These observations indicated a never-described metabolic condition – similar to other mucopolysaccaride storage diseases, such as Hunter Syndrome - but involving just one compound, heparitin sulfate, instead of two. While Sanfilippo syndrome often doesn’t manifest itself until a child is about five, the discovery helped numerous pediatricians make accurate diagnoses, and helped parents better understand the cause of the disorder and what to expect moving forward.
According to Stuart Siedman, vice president, Ben’s Dream – The Sanfilippo Foundation, “Dr. Sanfillipo’s legacy is that while he discovered the causes of a devastating disease, he set the course for finding a cure.” Remarking on an earlier encounter with Sanfilippo, Siedman said, “You could feel what a caring, empathetic person he was — and how excited he was with the advancements to find a cure.” Towards the end of his life, Sanfilippo was able to see researchers take up the genetics baton on Sanfilippo Syndrome.
When Sanfilippo died in 2013 at the age of 87, Siedman remarked, "A thousand mile journey starts with a single step - the Sanfilippo community will forever be grateful to Dr. Sanfilippo for taking that very first step on our journey for a cure.” We at Shire are inspired by Dr. Sanfilippo and his contributions as a researcher, doctor and diagnostician as we continue today to innovate and research for a treatment and a cure of Sanfilippo syndrome.