fbpx
Health and Medicine

Thanks to a Carolina research project, she can walk again

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, North Carolina.

Researchers work in lab.

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 worsened. She began using crutches. Eventually, she didn’t want to leave the house and would rely on a wheelchair. She went on a diagnostic odyssey for decades and her condition never improved despite various treatments and even surgeries until she came to Dr. Jane Fan, a neurologist at UNC-Chapel Hill who thought Davis’ 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 Dr. Jim Evans, the Bryson Distinguished Professor of Genetics and Medicine in the UNC School of 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.

As Evans and colleagues studied Davis’ genome, something jumped out at them – a variant in a gene that was well known to be associated with a condition called dopa-responsive dystonia. Evans wondered if Elizabeth’s particular genetic variant could be the cause of her condition. Would she respond well to the common drug L-Dopa?

Watch the accompanying video for Davis’ incredible story at the UNC Health Care website.

Today, the NIH announced the next wave Clinical Sequencing Evidence-Generating Research Consortium. At Carolina, it’s simply called NCGENES 2, this time led by Dr. Jonathan Berg, an associate professor of genetics at the UNC School of Medicine who has worked with Evans for many years.

NCGENES 2 is a four-year, $9,777,556 project. Co-principal investigators are Dr. Bradford Powell, clinical assistant professor in the genetics department, and Christine Rini, formerly of UNC-Chapel Hill and now at the Hackensack University Medical Center in New Jersey.

“The more we learn about the human genome and how our genes influence rare and common diseases, the more opportunities we’ll have to help patients and achieve the kind of outcome we saw with Elizabeth,” said Berg, who like Evans is a member of the UNC Lineberger Comprehensive Cancer Center.

The first NCGENES grant explored how best to incorporate new DNA sequencing technology into clinical practice. NCGENES 2 will focus on generating evidence to support the routine use of genomic sequencing as a first-line diagnostic test in patients like Davis.

“We can’t expect stories like Elizabeth’s to happen every day,” Berg said. “But all of us doctors who see patients every week understand there is so much more we can learn about human genetics in relation to human health. And if we want to help more people, then this is the kind of research we need to make it happen.”