Medical Genetics

The Division has continued to make significant contributions to our understanding and knowledge of metabolic disease, mitochondrial disease and cytogenetics. The division is expanding its role in the area of prenatal diagnostic intervention in close collaboration with the USC Department of OB/GYN/Perinatal Division.

National and International Recognition

Richard G. Boles, MD

• America's Top Doctors, Castle Connolly Medical Ltd., 2001

Richard Koch, MD

• Guest speaker at First Newborn Screening Conference on Newborn Screening at Curitiba, Brazil.
• Oral presentation on Follow-Up Study of Adult Persons with Phenylketonuria at Scientific Study of Inborn Erros of Metabolism at Prague, Czech Republic.
  Recipient of Biopterin NIH Grant as Co-Investigator, University of Texas with Reuben Matalon, M.D., Ph.D.

National Key Committees

Shoji Yano, MD

• Served as a Chair of a symposium about preventive management of Inborn Error of Metabolism at the Japanese Society of Inborn Errors of Metabolism, Kurume, Japan

Richard G. Boles, MD

• Scientific Advisory Board, United Mitochondrial Disease Foundation
  Professional Advisory Board, Cyclic Vomiting Syndrome Association, USA/CANADA
• Chairman, Publications Committee, Mitochondrial Medical Society
• Grant Reviewer, United Mitochondrial Disease Foundation

Publications

Number of articles in peer-reviewed scientific journals 16
Number of book chapters published 1
Number of abstracts published 13

Community Outreach Programs

Richard Koch, MD

• Pediatric Consultant for the Forensic Assessment Team at South Central Regional Center for Judicially involved mentally retarded persons arrested in Los Angeles County.

Institutional Collaborations

Richard Koch, MD

• NICHD Contract Maternal PKU contract with Boston Children's Hospital, University of Illinois School of Medicine, University of Texas Medical Branch, Galveston, Hospital for Sick Children, Toronto, Canada and Children's Hospital, Reutlingen, Germany.

Samuel Wu, MD

• Collaboration with Dr. Albertini in University of Wisconsin-Madison: Localization of transfected B7-1 (CD80) DNA in human melanoma cells after particle mediated gene transfer.
• Collaboration with Dr. Avramis in Hem/Onc of CHLA: Mechanism of dry resistance via DNA repair in an all-leukemic cell line mode.
• Collaboration with Dr. Batra in Hem/Onc of CHLA: Genetic mechanism for drug resistant of primitive neuroectodermal tumors.

Other Highlights

The NIH Conference at Bethesda, MD on Maternal PKU is in the planning stage with Pediatrics to publish the proceedings of the conference.