A paper detailing new diagnostic criteria for tuberous sclerosis complex (TSC) appears in the most recent online issue of Pediatric Neurology. The author is Hope Northrup, M.D., professor of pediatrics at The University of Texas Health Science Center at Houston (UTHealth).
Northrup was co-author of a second paper in the same issue that outlines surveillance and management of tuberous sclerosis complex (TSC). Lead author of that paper is Darcy A. Krueger, M.D., Ph.D., of Cincinnati Children's Hospital Medical Center.
Material for both papers came out of the 2012 International Tuberous Sclerosis Complex Consensus Conference sponsored by the Tuberous Sclerosis Alliance (TS Alliance). Northrup and Krueger were co-chairs of the conference, which involved 79 TSC experts from 14 countries to develop the new guidelines.
"Gathering so many experts was crucial to ensure the updated recommendations benefited from a wide range of diverse perspectives," said Northrup, who is director of the Division of Genetics in the Department of Pediatrics at the UTHealth Medical School. "Moreover, rapid advances are occurring in TSC treatment research, so we are excited about the new focus on the importance of comprehensive and coordinated care outlined in the guidelines."
TSC is a genetic disease affecting approximately 50,000 in the United States and more than 1 million worldwide. It causes tumors to form in vital organs, primarily the brain, heart, kidneys, skin, eyes, liver and lungs. TSC is also the leading genetic cause of both epilepsy and autism. Currently, there is no cure.
Because TSC involves multiple systems in the body, the conference included specialists in genetics, neurology, epilepsy, cardiology, neurodevelopment and behavior, dermatology, dentistry, nephrology, pulmonology, ophthalmology, gastroenterology, endocrinology and others. Steven L. Roberds, Ph.D., chief scientific officer of the TS Alliance, led the conference's implementation and said, "It was truly impressive to witness all these compassionate experts from varying fields work together so effectively toward the common goal of ensuring the best care for people with TSC."
"The TS Alliance is thrilled to release these new 'gold standards' for TSC, surveillance and management," said Kari Luther Rosbeck, president and CEO of the TS Alliance. "Prior guidelines were based on a 1998 TSC consensus conference, and since then, tremendous advances have been made in the field of TSC, particularly in the growth of new treatment options. We believe these new clinical consensus guidelines will improve the quality of life of everyone touched by this disorder."
Northrup, who is also on the faculty of The University of Texas Graduate School of Biomedical Sciences, has led a laboratory for the past 20 years that contributed to finding the two TSC-causing genes. In 2006, she founded the Tuberous Sclerosis Center, part of UT Physicians, one of just 20 clinics in the country devoted to research and the treatment of tuberous sclerosis complex. UT Physicians is the practice arm of the UTHealth Medical School.
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