SHANGHAI :
Shanghai Opens China's First Clinical Research Project for Rare Pediatric Diseases
Dou Shicong
DATE:  Mar 12 2018
/ SOURCE:  Yicai
Shanghai Opens China's First Clinical Research Project for Rare Pediatric Diseases Shanghai Opens China's First Clinical Research Project for Rare Pediatric Diseases

(Yicai Global) March 12 -- China recently unveiled its first clinical research center for treating rare children's diseases in Shanghai. The facility uses whole-genome sequencing (WGS) technology to diagnose and treat mental retardation, stunting and congenital malformations caused by inherited genetic defects.

The Chinese Medical Doctor Association, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University and Xiangya Hospital of Central South University co-sponsored the project, Shanghai Morning Post reported yesterday. Xin Hua Hospital is the current diagnosis and treatment center for rare diseases in Shanghai. 

By identifying the pathogeneses of orphan diseases based on analysis of data generated from whole-genome sequencing, the new center seeks to establish theoretical bases and provide research data to support high-precision personalized treatment programs. It is also tasked with creating clinical standards for WGS applications and a database of rare diseases afflicting children.

Existing genome sequencing techniques available in China cannot accurately diagnose certain rare diseases, but the WGS technology can detect complex genome structural variations that are otherwise undiscoverable, meaning that clinical applications of the new technology will significantly improve the accuracy of orphan disease diagnosis, noted professor Xu Yongguo, director of the project and a leading pediatrician at Xin Hua Hospital. Orphan diseases are rare maladies those for which the pharmaceutical sector has not developed treatments because of lacking financial incentives.

Some 6,000 to 7,000 rare diseases have been found worldwide, and about 80 percent of these stem from genetic defects. Roughly half of patients develop symptoms at birth or in childhood. About 17 million Chinese have been diagnosed with such uncommon disorders.

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Keywords:   Rare Disease,Gene Sequencing,Shanghai,Xin Hua Hospital