BioNexus KC has recently awarded three $50,000 grants to area scientists to support research focused on pediatric genetic diseases. The partnership with the Paul Patton Trust launched in 2007 and has awarded 40 grants totaling $2.4 M for this important area of research. The funds to support these studies are provided by the Paul Patton Trust, Ted C. McCarter, William Evans, Jr., and Bank of America, N.A. Trustees.
One recipient is our own Dr. Timothy Cox, Endowed Chair in Mineralized Tissue Research (Department of Oral and Craniofacial Sciences), whose research into the cellular mechanisms underlying cleft lip/palate also received NIH/NIDCR R01 grant support in 2019. Cleft lip/palate (CLP) is one of the most common birth defects, affecting 1 in 700 live births globally. The causes of CLP among most infants are unknown and in many cases occurrence and severity is impossible to predict. The severity of CLP determines how many surgeries will be necessary to improve appearance, breathing, hearing and speech and language development.
The numerous research projects underway in the Cox lab collectively strive to improve strategies for diagnosis, risk counseling for families and development of interventional therapies. “It is hoped that in the future we will be able to intervene early to reduce the incidence and severity of cleft lip/palate and thus reduce the numbers of surgeries these children must undergo,” Dr Cox said.
With this grant funding from BioNexus KC, Dr Cox will be testing a new hypothesis about the role of somatic mutation in the susceptibility and variability of cleft lip/palate. Dr Cox and his bioinformatics analyst, Dr Soumya Rao, will apply three complementary sequencing technologies to capture genetic differences in embryonic facial tissue to determine how this may impact the disease.
“We are really grateful to BioNexus KC for this award as it solidifies our Kansas City collaborations with Children’s Mercy’s Center for Pediatric Genomics and De Novo Genomics at KU Medical Center — a tri-institution partnership,” Cox said. “Equally important, the funding will allow us to generate critical preliminary data and the opportunity to build new bioinformatic workflows and capacity within the UMKC system. This will place us in an excellent position to secure longer-term funding from the National Institutes of Health.”
Dr Cox said. “Although obviously exciting for our own work on cleft lip/palate, results from this project may ultimately help us understand how individual-specific genetic mutations (like somatic mutations — those not inherited from a child’s parents) contribute to the risk of being born with any birth defect.”