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Boston Children’s Sahin and Cincinnati Children’s Krueger receive grant for tuberous sclerosis complex study
We’re pleased to announce that Boston Children’s Hospital neurologist Mustafa Sahin, MD, PhD, and Darcy Krueger, MD, PhD, of Cincinnati Children’s Hospital Medical Center, have received part of a $100 million grant from the National Institutes of Health as part of the Autism Centers of Excellence. The grant supports their research on tuberous sclerosis complex (TSC). This rare genetic disease causes children to develop benign tumors in their brain and other vital organs and increases their risk of developing autism. Currently, there is no cure for TSC, although there is treatment for the symptoms. Through this project, a consortium of TSC clinics at five pediatric hospitals will recruit infants diagnosed with TSC to track brain development and gain insights into how autism develops.
Our bodies are stocked with sophisticated controls that keep our cells working in harmony with one other, so that no cells grow to overstep their bounds. When one of these central systems isn’t working as it usually does, problems can occur in many different parts of the body.
That’s what happens in tuberous sclerosis complex (TSC; also called tuberous sclerosis or TS): A single change in your child’s DNA can allow cells to grow in an abnormal way, which can produce a variety of symptoms. These may include:
Some children with TSC face serious problems, while for others, the disease is very mild. It’s important to know that even though the list of possible complications is long, every child with TSC doesn’t experience all of them.
Here’s some basic information about tuberous sclerosis complex:
In the last several years, researchers have made major discoveries about the causes of TSC, and these scientific findings are leading to promising new treatments.
How Boston Children’s Hospital approaches tuberous sclerosis complex
At Boston Children’s, we formed the Multi-Disciplinary Tuberous Sclerosis Program with the belief that children with TSC benefit from care that is coordinated and specially tailored to their needs.
In addition to providing expert care today, we’re searching for ways to improve the lives of children with TSC tomorrow by conducting research to better understand the disease and find new treatments. We’re conducting clinical trials of new drugs, studying the complications that children with TSC can experience and looking for DNA abnormalities that may contribute to the disease.
Tuberous sclerosis complex: Reviewed by Mustafa Sahin, MD, PhD
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