Texas Children’s Hospital and Baylor College of Medicine launch a new clinical genomic sequencing program to help patients with an undiagnosable condition
Known disease-causing gene variants have been found in about 35% of children with severe developmental and severe childhood diseases. Texas Children’s Hospital and Baylor College of Medicine researchers, Dr. Hugo J. Bellen, Dr. Richard Gibbs, and Dr. Katherine Y. Kinghave launched a new genomic sequencing initiative to identify the genetic mutations and the underlying mechanisms responsible for the remaining two-thirds of severe pediatric conditions.
This transformational project is made possible by a two-year grant (potentially extendable) from the Chan Zuckerberg Initiative and is an extension of national collaborative initiatives such as the National Institutes of Health’s Undiagnosed Diseases Network (UDN) and the Genomics Research to Elucidate the Genetic of Rare Diseases programs (GREGoR).
A few years back, a team of researchers in the Model Organism Screening Core at Texas Children’s Jan and Dan Duncan Neurological Research Institute led by world-renowned Drosophila neurobiologist, Dr. Hugo Bellen, had leveraged fruit flies to uncover and study new disease-causing genetic mutations. UDN referred them patients who after years of ‘diagnostic odysseys’ had failed to get a correct molecular diagnosis for their mystery conditions. By leveraging their deep expertise in fruit fly biology and closely collaborating with neurologists and geneticists, they were able to discover causative gene mutations and underlying mechanisms for more than forty neurological disorders in a fraction of the time such endeavors normally take.
“With this new program our goal is to offer this proven approach to pediatric patients at Texas Children’s with severe conditions such as structural defects or dysfunction in other organs including the immune system, heart, lungs, and liver,” Dr. Bellen said. “We propose to leverage the deep and diverse basic research and clinical expertise of Baylor College and Texas Children’s faculty and staff to discover novel gene variants that cause severe childhood disorders and conduct in-depth investigations into the
ir underlying disease mechanisms with the ultimate goal of identifying and developing new treatments.”
“In addition to the hope of getting a definitive diagnosis and an opportunity to be a part of a future treatment, each family that opts to participate in this program will receive immediate tangible benefits such as additional clinical genetics tests and counseling services,” Dr. King said. “Importantly, this will provide low-income families access to expensive genetic tests and specialized counseling services that are typically not covered by private insurance.”
“While there are dozens of sequencing efforts and disease gene discovery research programs out there, few pursue the multidisciplinary collaborative approach that closely integrates patient care with in-depth animal research studies as we are proposing,” said Dr. Gibbs.