| Introducing Sylvia Stöckler Ipsiroglu – a Champion of Newborn Screening |
|
|
|
bridges vol. 21, April 2009 / News from the Network: Austrian Researchers Abroad By Karoline Peter mp3 download 
Dr. Sylvia Stockler Ipsiroglu
One look at Sylvia Stöckler Ipsiroglu's curriculum vitae makes a stunning impression. Her 25-year career as a researcher,pediatrician, and health care manager is impressive enough when examined at each stage, but even more impressive when all of her accomplishments are combined: Stöckler launched her research career by discovering a metabolic disorder that later became part of newborn screenings in Austria; she then extended and overhauled the screening with new technology as a health care manager during her time in the Department of Pediatrics at the University Hospital in Vienna, and as head of the Austrian newborn screening program. In 2005, she followed a call to head the Division of Biochemical Diseases and the Cystic Fibrosis clinical service at British Columbia's Children's Hospital in Vancouver, Canada. She continues to apply her knowledge and expertise to expand newborn screening in Canada - while still finding time to sit at the bedsides of her young patients. From a pediatrician to a health care manager After finishing her Ph.D. at the Karl Franzens University in Graz in 1983, Stöckler completed her residencies and some fellowships before moving to Göttingen, Germany, in 1992 to work in neurology at the August University. During her fellowship training in Göttingen, her career was serendipitously pushed in a certain direction: In 1994, she was the first scientist to describe the cerebral creatine deficiency syndrome. Her discovery was about a metabolic disorder, more precisely, about a defective enzyme, guanidinoacetate methyltransferase (GAMT), one of the enzymes responsible for creatine production. If not treated, this rare disorder leads to mental retardation, speech delay, and epilepsy. However, if diagnosed early in newborns, treatment is simple by supplementing the patients with creatine monohydrate and ornithine and putting them on dietary arginine restriction. This can be done immediately after birth, reducing brain damage enormously. After this groundbreaking discovery, her professor suggested extending her stay at August University in Göttingen to continue research in this field. Stöckler did so, and also completed her Habilitation in 1996 while at Göttingen.
Even today, Stöckler continues to enjoy an international reputation for her 1994 pioneering discovery of the creatine deficiency syndrome. "People still call me up to ask for my opinion on how patients should be treated," says Stöckler. Today, the number of patients identified with creatine deficiency is estimated to be approximately 250. "There might be so many more out there. A few years ago, a child's diagnosis was simply epilepsy and severe developmental delay, but today - especially thanks to the availability of advanced analytical methods (such as tandem mass spectrometry) - we can diagnose a creatine deficiency disorders early on, and treatment can be started before major damage occurs. Creatine deficiency is also a good candidate for newborn screening," so Stöckler. In 1996, Stöckler returned to Austria, where she became an attending physician in the Department of General Pediatrics and head of the Unit for Biochemical Diseases at the University Hospital of Vienna. Only one year later, she was appointed to head the newborn screening program in Austria. Access to the full article is free, but requires you to register. Registration is simple and quick – all we need is your name and a valid e-mail address. We appreciate your interest in bridges. |
|||||||
