A variant in BRAT1 also leads to an expanded phenotype
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.