In 1970 Emory University established EGL Genetics (EGL) as an academic, not-for-profit organization, with the mission of performing biochemical, cytogenetics, and molecular clinical genetic testing. Since its inception, EGL has served as the only comprehensive provider of clinical and laboratory genetic services in Georgia. In January 1991, EGL achieved its first major growth milestone by expanding its molecular laboratory to explore improving technologies and advancements in DNA testing.
The three laboratories continued to operate under the Emory Department of Pediatrics until 2002, when Stephen Warren, PhD, FACMG, incorporated EGL into the newly created Emory Department of Human Genetics, which he founded. The Department of Human Genetics (www.genetics.emory.edu), performs research, teaching, and clinical services for the School of Medicine, and is home to the National Down Syndrome Project. It also serves as one of only three national Fragile X research centers.
In 2004 EGL Genetics, including its biochemical, cytogenetics, and molecular laboratories, were fully integrated into one comprehensive laboratory and moved to its current location. The facility is a 13,000+ square foot, state-of-the-art, Biological Safety Level II Laboratory, located approximately a half mile from the main Emory University campus.
EGL currently employs greater than 100 staff members and is led by a highly experienced and knowledgeable team of laboratory directors, who are pioneers in the field of human genetics. Their expertise spans the fields of molecular biology, cytogenetics, biochemical genetics, rare-disease testing, and comprehensive testing for newborn screening follow-up. EGL is the first clinical laboratory to contribute to the “Free the data” movement, by giving the clinical and research community open-access to its online variant (mutation) database. EGL also serves as the follow-up laboratory for the state of Georgia Newborn Screening Program.
EGL Executive Director, Madhuri Hegde, PhD, FACMG, has a personal interest in the development of high-throughput sequencing strategies for rare disorders. Dr. Hegde’s clinical work focuses on developing and performing comprehensive variant analysis and interpretation for complex or challenging genetic disorders, using sequence capture technologies for targeted gene panels and development of medical exome, robotics, next generation sequencing, oligonucleotide array platforms, variant classification, and electronic medical record-integration of genetic data. Her research is focused on identifying new genes for muscular dystrophy and developing a comprehensive follow-up program for newborn confirmatory testing for Duchenne Muscular Dystrophy. As a leader in establishing the importance of next generation sequencing to clinical diagnosis, she continues to ensure EGL remains cutting-edge by developing, investigating, and pursuing technologies to improve patient care.
In The Spotlight
Dr. Collins is a board-certified molecular geneticist and a laboratory director for the Molecular Genetics Laboratory.
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