PubMed search for Dr. Chunli Yu

Areas of Specialization/Research Interests:
Diagnosis of inborn errors of metabolisms, including: Organic acidemias, Amino acidopathies, Fatty acid oxidation disorders, Galactosemia, Lysosomal storage diseases
Expanded newborn screening using tandem mass spectrometry

Professional Memberships and Activities:
American College of Medical Genetics
American Association of Mass Spectrometry

Education:
1987 B.S., Biology (Pre-med), Peking University
1992 M.D., Medicine, Peking Union Medical College
1996-1999 Postdoctoral Fellow, Biochemical Disease Detection Lab, Department of Genetics, Yale University School of Medicine, New Haven

Research Description:
Emory Biochemical Genetics Lab is an active tertiary referral center for a large variety of inborn errors of metabolisms, with an average of 5000-6000 sample flow per year and a significant amount of consultational and educational responsibilities. My primary interest is to direct this biochemical genetics service lab, maintain its functions and comply with the governmental regulations. Particularly I wish to expand our capabilities in diagnosing Fatty acid oxidation disorders and persue possible research in this area. My secondary interest is focused on expanded newborn screening using tandem mass spectrometry. This emerging technology expanded the screening spectrum to nearly 30 metabolic disorders from dried blood spots samples. This cutting-edge technology can help us detect more infants with metabolic disorders during the neonatal period and gain more experience in the medical and nutritional management of those patients. Currently we have already installed the tandem mass spectrometry lab and set up the methodology to do the pilot expanded newborn screen. I hope through the pilot screening experience, we can provide statistical data for the State legislature, so that eventually all the newborns in the State of Georgia will be screened for more metabolic disorders.