RAIDdb：遺傳及罕見疾病整合平台的開發與建構

RAIDdb: Developing and Constructing an Integrated Platform of Inheritance and rare Diseases

近幾年遺傳及罕見疾病案例愈來愈多，人類對疾病的認知也愈加明顯，尤其是影響世代的遺傳疾病變成了人類最想了解的知識區塊。在遺傳疾病上，除了受制於基因的表現外，也會因為基因突變、缺陷而產生不同型態的改變。本論文由行政院衛生署國民健康局公告的140種罕見遺傳疾病名單和國外OMIM的疾病，希望建構出一個整合醫學資訊和生物資訊相關的平台網站。目前國內知識平台網站大都是提供疾病在臨床上的表徵、治療、和癒後的模式而已（較偏向諮詢的角度）；此平台網站希望以疾病、基因和SNP三者之間的重要性和基因鑑定技術，提供使用者及臨床人員在基因體上輔助知識，提早預防遺傳疾病的發生。在網路普及化的影響下，多數民眾已經知道利用網路來搜尋更多關於特定疾病的相關訊息。但在這麼多元且複雜的資料中，無法辨識資料的正確性。本論文是應用電腦工具的輔助，利用電腦技術（程式語言C#）的處理這些代表性的遺傳分子資訊，疾病在臨床上的表徵和基因在不同個體間的表現量，透過資料庫系統(Microsoft Access)的建置加以整合，並利用ADO.NET物件的技術和(ASP、ASP.NET)網頁技術來建立遺傳及罕見疾病加值資料庫(RAIDdb)及平台網站。此網站分為中、英文網站，除了可以提供知識給病患或病患家屬外，還提供給相關領域的人員來查詢，可以節省大量的搜尋時間，亦不用因為網站間的介面的差異性而需花費時間學習，加快效率。

Through the increasing of the number of inheritance and rare diseases, people have understood more and more knowledge about the causes of these diseases. In general, genetic diseases (or genetic disorders) are caused by abnormal expression of genes, including many chromosome mutations. This paper proposes a way to construct a web-based platform, which integrates medical and biological related information of 140 rare diseases from BUREAU OF HEALTH PROMOTION, TAIWAN and many genetic diseases from OMIM together. Until currently, most of the domestic rare disease-related websites only provide symptoms, treatment and counseling of diseases. In this paper, we have designed a way to connect diseases, genes, SNPs, and gene identification techniques in a single integrated platform. The platform can be searched easily by general public and clinical researchers in order to understand the details and to prevent diseases from happening in advance. Since the emerging of internet techniques, people have learned how to search for the knowledge of rare diseases through the internet. It is sometimes, however, difficult to get a complete knowledge of a rare disease from a single site. In this paper, we have developed a computer-aided tool to integrate genetic information, clinical symptoms of diseases, different gene expression level among different individuals using computer techniques (program language C#). All key information are first collected into an Access database using ADO.NET object techniques and ASP (ASP.NET) web page techniques, we have then constructed some user-friendly interfaces to utilize all the datasets and display answers queried by the end users. Both Chinese and English versions are provided in our RAIDdb system. The advantages of this design are to provide all useful information to patients and their families, as well as to professionals in the healthcare field. The goal of our design is then to provide a complete knowledge of inheritance and rare diseases in a single platform, in this way; it will significantly reduce the search time and increase the computer efficiency.