The sequencing of the human genome is leading to advancements in personalized medicine, but the process of associating genetic variation to a specific human disease and treatment is still complex. Recent progress in DNA sequencing technologies, known as next generation sequencing (NGS), is enabling the detection of many genomic alterations. Experts with training and skill in bioinformatics and the ability to analyze massive volumes of genomic data are fostering novel approaches to the study and treatment of diseases like cancer and sickle cell disease.
Erin Crowgey, PhD, who recently earned her doctorate in bioinformatics at the University of Delaware, has joined Nemours as Research Associate Director of Bioinformatics. Dr. Crowgey has unique expertise in identifying genetic variation captured from regions of interest in DNA samples. To do this, she develops software scripts (sometimes referred to as pipelines) that sift through enormous amounts of data with the goal of identifying genetic alterations that are linked to a specific disease.
Tim Bunnell, PhD, Nemours Director of Bioinformatics, said that Dr. Crowgey’s solid undergraduate grounding in biology enables her to apply bioinformatics capabilities in a meaningful way. Moreover, he added, "Dr. Crowgey is extremely adept at teasing out genomic variations by cleverly designing her analyses. In other words, she knows what to look for and she has a knack for finding it." As Dr. Kolb put it, "Erin can find a needle in a needle stack."
NGS, bioinformatics, and Dr. Crowgey herself all represent the next generation of opportunities in the evolution of science and medicine.
Nemours is an internationally recognized children's health system that owns and operates the Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., and Nemours Children's Hospital in Orlando, Fla., along with outpatient facilities in six states, delivering pediatric primary, specialty and urgent care. Nemours also powers the world’s most-visited website for information on the health of children and teens, KidsHealth.org and offers on-demand, online video patient visits through Nemours CareConnect.
Established as The Nemours Foundation through the legacy and philanthropy of Alfred I. duPont, Nemours provides pediatric clinical care, research, education, advocacy, and prevention programs to families in the communities it serves.