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New TGen Center for Rare Childhood Disorders Leveraging Sequencing Technology

NEW YORK (GenomeWeb News) – The Translational Genomics Research Institute today announced the creation of a new center to leverage genomic sequencing technology aimed at rare childhood disorders.

The center, called the TGen Center for Rare Childhood Disorders (C4RCD), aims to use the latest sequencing technology to diagnose children "with a baffling array of seriously debilitating, and often lethal, symptoms for which there is no known cause or treatment, let alone a cure," TGen President and Scientific Director Jeffrey Trent said in a statement. "Through the C4RCD, TGen has a unique opportunity to significantly improve the lives of these children and their families."

C4RCD has four major components — clinical evaluation and genomic diagnosis; counseling and optimization of conventional therapy; novel therapy development; and community outreach. Each child being seen at the center will receive a clinical evaluation, including whole-genome sequencing.

"At TGen, we now have the tools to sequence the entire genome of these children in a relatively short time and at ever-lower costs," David Craig, TGen's deputy director of bioinformatics and co-director of the C4RCD, said. "Through this examination of the billions of chemical letters that spell out each human being's unique genome, and analyzing all the potential genetic changes, or mutations, we now have the ability to potentially identify the root cause of each child's condition."

Having identified a genetic target, C4RCD will look for an existing FDA-approved drug that can be repurposed to treat the rare disorder. "If there is no obvious approved drug," TGen said, "C4RCD will develop a custom screening approach to prioritize approved drugs in [the] order of their potential effectiveness," thereby sparing the child of having to wait for the development of an entirely new drug, a process that typically takes years.

"A precise genetic or molecular diagnosis is of vital importance for the entire family of our patients. But that is just the beginning," Vinodh Narayanan, medical director of C4RCD, said. "We want to use this genetic information to understand more about the particular disorder, and develop novel approaches to treatment. That is what is going to differentiate us from other services — complete integration of the clinical center and the genomic research lab."

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