Development of computer software 'GenDis English version' for the diagnosis of genetic diseases.

(1)建立遗传疾病数据库截至2004年3月底，主要通过Internet（OMIM）对包含在UR-DBMS（the University of the ryukyus -畸形综合征数据库）中的庞大旧数据进行了修订。结果，在几个文件（主要UR-DBMS、参考、摘要、cDNA、突变等）中完成了约7900种疾病和/或基因座的最新数据库。这个UR-DBMS Ver.11的总容量超过了750 MB。(2)开发新的英语原版软件。我原来用日语操作系统的计算机诊断遗传病的软件GenDis的操作程序被重写成英语，以便在英语操作系统的计算机上使用。这款软件最近被命名为“综合症查找器”，以区别于原来的日语“GenDis”。将UR-DBMS Ver.11中的临床表现数据纳入“综合征查找器”的查找数据域。最后，“Syndrome Finder”软件能够在输入患者的全部表现后，按其概率顺序选择候选疾病或综合征。2003年4月开始向公众开放，并在第52届美国人类遗传学会年会上发表。综合症查找器被要求使用日本63家专门医院的遗传诊所。从2004年4月起，更新的“综合症发现者2”已经开放。

(1)Making a database for genetic diseasesThe huge old data included in UR-DBMS(University of the Ryukyus-Database for malformation syndromes) had been revised mainly through Internet(OMIM) to the end of March 2004. As a result, newest database was accomplished for about 7,900 diseases and/or loci in several files(main UR-DBMS, reference, abstract, cDNA, mutation etc.). Total volume of this UR-DBMS Ver.11 exceeded more than 750 MB.(2)Development of new original software for EnglishThe operating program of my original software 'GenDis', for making a diagnosis of genetic diseases using Japanese-OS computers, was rewrote in English to enable to use it in English-OS computers. This software was newly named as 'Syndrome Finder' to distinguish it from original Japanese 'GenDis'. The data of clinical findings in UR-DBMS Ver.11 were taken into the finding data field of 'Syndrome Finder'. Finally, 'Syndrome Finder' software had an ability to select candidate diseases or syndromes in the order of its probability after inputting patient's full manifestations.English Syndrome Finder was started opening to the public from April of 2003,and presented in 52nd Annual Meeting of American Society of Human Genetics. Syndrome Finder was requested to use from 63 specialized hospitals for genetic clinics in Japan. Much newer 'Syndrome Finder 2' has been opened from April of 2004.