Washington Post article describes how Claritas helped a family obtain a diagnosis for their son

A variant in BRAT1 also leads to an expanded phenotype

January 03, 2017

A Washington Post article, published on December 30, 2016, describes the Weekes family's journey with Boston Children's Hospital to find a molecular diagnosis for their son Quinlan, who has experienced seizures and other serious medical issues since birth. The article describes Claritas Genomics' founder Dr. Tim Yu's use of the WuXi NextCODE platform to interpret Quinlan's DNA sequence which resulted in a diagnosis that explained Quinlan's medical issues. Although there is no cure for Quinlan's disorder, understanding the underlying molecular issue led to some adjustments in Quinlan's medical care. Additionally, Dr. Yu and his colleagues, including Quinlan's neurologist at BCH, Heather Olson, published a paper on the variant found in Quinlan, as it expanded the phenotype of the disorder. Access the abstract here.

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.