A new NIH-funded consortium in North Carolina will offer Early Check, a free newborn screening done in partnership with the N.C. State Laboratory of Public Health, UNC, Duke University, and Wake Forest Baptist Medical Center.
UNC clinical geneticists are part of a national consortium of researchers studying the ins and outs of genome sequencing for newborn health screenings and beyond.
The new research technique, developed by researchers at the UNC School of Medicine and UNC Lineberger Comprehensive Cancer Center, has the potential to illuminate the roles of previously inaccessible proteins important for health and disease.
In preliminary findings presented at the 2016 San Antonio Breast Cancer Symposium, researchers showed that older patients were as likely as younger patients to receive targeted therapy and enroll in therapeutic trials based on their sequencing results.
The basic biological process called alternative splicing proves vital in making sure important muscle cell proteins switch from their fetal forms to their adult forms. Not doing so could lead to muscle defects and disorders.
Variants of the human version of the gene may help explain why people differ so much in their ability to survive artery blockages.
UNC Lineberger researchers led by Dr. Timothy R. Gershon report preclinical findings showing promise for targeting a gene linked to microcephaly in infants as a treatment for medulloblastoma.
