As UNC geneticist Jonathan Berg gears up to lead a $9.7-million renewal of the NCGENES project, we look at a story from the original study and how it changed the fortunes of a woman from Goldsboro, NC.
CHAPEL HILL, NC – When she was six, a mysterious ailment caused Elizabeth Davis to walk on her toes. Kids began making fun of her. Doctors couldn't figure out why she walked like this. Then her condition got worse. She began using crutches. Eventually, she didn't want to leave the house and would rely on a wheel chair. She went on a diagnostic odyssey for decades and her condition never improved despite various treatments and even surgeries until she came to Jane Fan, MD, a neurologist at UNC who thought Elizabeth's condition had an underlying genetic component that typical diagnostics couldn't find. Fan thought Elizabeth might benefit from enrolling in NCGENES – North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing.
This was a four-year $6.4-million NIH-funded initiative led by Jim Evans, MD, PhD, the Bryson Distinguished Professor of Genetics and Medicine. Researchers sequenced the genomes of hundreds of people to develop best practices for diagnostic tools, some of which clinical geneticists now use to help guide health care for North Carolinians and people around the world.