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The International Conference of Medical Genetics 2004 (ICMG2004) was held at Peking University Health Science Center on July 14-18, 2004. This conference is a part of the series that have been organized by the North American Association of Chinese Medical Geneticists (NAACMG) and the Chinese Medical Genetics Association (CMGA) and was initialized by the year of 2000 at Nanjing (ICMG2000, Nanjing). The mission of the series is to promote research, education, and clinical practice on medical genetics in China as well as in south Asian countries. This year, more than 200 participants from Mainland China, Taiwan, Hong Kong, England, and United States attended the ICMG2004. The conference opened with a remark addressed by Dr. Qi-de Han, the Vice Chairman of the Standing Committee of National Congress, who is the Director of Peking University Health Science Center and the Executive President of Peking University. Dr. Owen Rennet, Scientific Director of NICHD, NIH, gave a keynote speech at the opening session. Six sessions, chaired by Drs. Virginia Anderson, Wai-Yee Chan, Tian-jian Chen, Jiang Gu, Jian Han, Tao-Sheng Huang, Marilyn Li, Gary Lu, Ming Qi, Bai-Lin Wu, Nanbert Zhong, Chun-Yan Zhou, have covered various aspects of medical genetics with focus on birth defect, which is different from the main focus of neurogenetic disorders at ICMG2000. These aspects include inborn error of metabolism, intervention of birth defects, prenatal diagnosis and newborn screening, chromosome abnormalities, molecular basis of genetic disorders, environmental factors and birth defects, and genetic counseling and clinical management.