{"id":2811,"date":"2017-08-15T18:10:00","date_gmt":"2017-08-15T22:10:00","guid":{"rendered":"https:\/\/www.med.unc.edu\/genetics\/thanks-to-a-unc-research-project-she-can-walk-again\/"},"modified":"2018-02-05T16:56:02","modified_gmt":"2018-02-05T21:56:02","slug":"thanks-to-a-unc-research-project-she-can-walk-again","status":"publish","type":"post","link":"https:\/\/www.med.unc.edu\/genetics\/thanks-to-a-unc-research-project-she-can-walk-again\/","title":{"rendered":"Thanks to a UNC research project, she can walk again"},"content":{"rendered":"

<\/p>\n

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.<\/p>\n

\n
\"Watch
Watch the video<\/a> about how NCGENES helped Elizabeth Davis to walk again.<\/figcaption><\/figure>\n

CHAPEL HILL, NC \u2013 When she was six, a mysterious ailment caused Elizabeth Davis to walk on her toes. Kids began making fun of her. Doctors couldn\u2019t figure out why she walked like this. Then her condition got worse. She began using crutches. Eventually, she didn\u2019t 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\u2019s condition had an underlying genetic component that typical diagnostics couldn\u2019t find. Fan thought Elizabeth might benefit from enrolling in NCGENES \u2013 North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing.<\/p>\n<\/div>\n

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.<\/p>\n

Fan wanted Evans to weigh in and referred Elizabeth to the NCGENES study. As Evans and colleagues studied Elizabeth\u2019s genome, something jumped out at them \u2013 a variant in a gene that was well known to be associated with a condition called dopa-responsive dystonia. Evans thought, could Elizabeth\u2019s particular genetic variant actually be the cause of her condition? Would she respond well to the common drug L-Dopa?<\/p>\n

Watch the accompanying video<\/a> for Elizabeth\u2019s incredible story.<\/p>\n

Today, the NIH announced the next wave Clinical Sequencing Evidence-Generating Research Consortium<\/a>. At UNC, it\u2019s simply called NCGENES 2, this time led by Jonathan Berg, MD, PhD, associate professor of genetics at the UNC School of Medicine, who has worked with Evans for many years.<\/p>\n

NCGENES 2 is a four-year, $9,777,556 project. Co-principal investigators are Bradford Powell, MD, PhD, clinical assistant professor in the genetics department, and Christine Rini, PhD, formerly of UNC and now at the Hackensack University Medical Center in New Jersey.<\/p>\n

\u201cThe more we learn about the human genome and how our genes influence rare and common diseases, the more opportunities we\u2019ll have to help patients and achieve the kind of outcome we saw with Elizabeth,\u201d said Berg, who like Evans is a member of the UNC Lineberger Comprehensive Cancer Center.<\/p>\n

~except from the full article by Mark Derewicz on SOM Newsroom which you can read here.<\/a><\/em><\/p>\n

Read more about the history of genetics research, NC GENES, and Elizabeth’s story at Endeavors<\/a>, UNC’s online research magazine.<\/em><\/p>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

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 \u2013 When she was six, a mysterious ailment caused Elizabeth Davis to walk on her … Read more<\/a><\/p>\n","protected":false},"author":22429,"featured_media":4734,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[2],"tags":[],"class_list":["post-2811","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","odd"],"acf":[],"yoast_head":"\nThanks to a UNC research project, she can walk again | Department of Genetics<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.med.unc.edu\/genetics\/thanks-to-a-unc-research-project-she-can-walk-again\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Thanks to a UNC research project, she can walk again | Department of Genetics\" \/>\n<meta property=\"og:description\" content=\"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. 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