TGen Launches the C4RCD

The Translational Genomics Research Institute (TGen) recently announced the creation of a new center that could have life-changing effects on the lives of potentially thousands of children and their families.


The TGen Center for Rare Childhood Disorders (C4RCD) harnesses the latest technologic leaps in genome sequencing to pinpoint the causes of rare childhood disorders that largely remain a mystery to modern medicine.


“We envision a Center that leverages today’s genomic technology toward diagnosing 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. In many cases, it’s merely a collection of symptoms,” said Dr. Jeffrey Trent, president and scientific director of TGen. “Through the C4RCD, TGen has a unique opportunity to significantly improve the lives of these children and their families.”


Often, there are just a few children, or even a single child, with a particular set of symptoms. Collectively, according to the National Institutes of Health, there are close to 7,000 rare diseases and about 25 million people in the U.S. have one.


“Too often, the parents of these children are left with nowhere to turn. They often are simply prescribed medications for their child, such as anti-seizure drugs, that only address the symptoms,” said Dr. David Craig, TGen’s deputy director of Bioinformatics and co-director of the C4RCD.


“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. 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,” said Craig.


Understanding what is causing the disease or condition enables TGen to consider treatment options that could best help each child.


The C4RCD team


If the sequencing reveals a genetic target, C4RCD scientists search the catalog of existing FDA-approved drugs in hopes of repurposing one to treat the rare disorder.


TGen’s C4RCD has four major components:  clinical evaluation and genomic diagnosis, optimizing conventional therapy, novel therapy development, and community outreach.


Each child will be clinically evaluated and have their genome tested, including the use of whole genome sequencing, which spells out the entire 3 billion letters of each individual’s DNA genetic code.


“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,” said Dr. Vinodh Narayanan, medical director of the C4RCD.


Trent said that there is a critical unmet need in the medical community, which only now can begin to be addressed through the advent of new genomic technologies.


“We continue to be amazed at the way families of children with debilitating conditions are able to find each other, share stories of their victories and of what is wrong, and try to come up with answers,” said Trent. “We hope to become an active partner and leader in these communities as we learn from the families and patients, and then try to come up with new and better answers for these children — today.”


Learn more or support the efforts of the C4RCD


– Text by Steve Yozwiak, TGen Senior Science Writer


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