Document Details

Document Type : Article In Journal 
Document Title :
Initiating a Human Variome Project Country Node
انشاء فروع محلية لمشروع الفاريوم العالمي
 
Subject : Human Variome Project 
Document Language : English 
Abstract : Genetic diseases are a pressing global health problem that requires comprehensive access to basic clinical and genetic data to counter. The creation of regional and international databases that can be easily accessed by clinicians and diagnostic labs will greatly improve our ability to accurately diagnose and treat patients with genetic disorders. The Human Variome Project is currently working in conjunction with human genetics societies to achieve this by establishing systems to collect every mutation reported by a diagnostic laboratory, clinic, or research laboratory in a country and store these within a national repository, or HVP Country Node. Nodes have already been initiated in Australia, Belgium, China, Egypt, Malaysia, and Kuwait. Each is examining how to systematically collect and share genetic, clinical, and biochemical information in a countryspecific manner that is sensitive to local ethical and cultural issues. This article gathers cases of genetic data collection within countries and takes recommendations from the global community to develop a procedure for countries wishing to establish their own collection system as part of the Human Variome Project. We hope this may lead to standard practices to facilitate global collection of data and allow efficient use in clinical practice, research and therapy. 
ISSN : 1098-1004 
Journal Name : Human Mutation 
Volume : 32 
Issue Number : 5 
Publishing Year : 1432 AH
2011 AD 
Article Type : Article 
Added Date : Tuesday, May 31, 2011 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
جمانة الأعمىAl-Aama, Jumana ResearcherDoctorate 

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