Stephen Kingsmore, MD, DSc, is a Professor in the Departments of Pediatrics and Obstetrics & Gynecology at the University of Missouri, Kansas City and the Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital in Kansas City, Missouri. While at Children’s Mercy Hospital, his team has been responsible for many research breakthroughs that could have possible effects on newborn screening tests. His team had developed a rapid whole genome sequencing approach to screening which they can use to scan for 600 severe childhood diseases and provide results within four to six weeks. His team is also responsible for building a software system that allows neonatologists to look for diseases in specific regions in the genome based on the newborn’s symptoms and then guide pathologists to where they should interpret results.
Before Dr. Kingsmore joined the Children’s Mercy team to pioneer new research technologies, he completed his medical studies at Queens University in Belfast, Northern Ireland and at Duke University. He started at Queens University where he completed his B.Sc., M.B., Ch.B., and B.A.O. in Medicine, Surgery and Obstetrics. He completed his postdoctoral work in genetics and a residency in Medicine Rhuematology at Duke University. After completing his medical studies, Dr. Kingsmore held a few executive roles, including serving as President and Chief Executive Officer at the National Center for Genome Resources.
Dr. Kingsmore has recently applied his extensive background in molecular genetics to the world of newborn screening research. He is currently a principal investigator on the “Clinical and Social Implications of 2-day Genome Results in Acutely Ill Newborns” a newborn screening research grant which has been awarded to a few noteworthy organizations including Children’s Mercy Hospital.
Congratulations to Dr. Kingsmore in his efforts to newborn health and research!
Sources:
http://www.childrensmercy.org/Health_Care_Professionals/Research/Stephen...
http://www.kclifesciences.org/news/expert-exchange/dr-stephen-kingsmore/