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Genomes for science, genomes for life, and genomes for you and me
Date:7/1/2013

to Bedside: Disease Genomics

How to apply genomics technologies to advance clinical applications becomes the key for researchers and clinicians to quickly and efficiently solve patients' disease problems. The conference brought researchers together for frank and vital discussion of the questions, solutions and applications on disease genomics and its applications.

Professor Jun Wang, Director of BGI, provided a summary on BGI's genetic studies of Autism Spectrum Disorder, the fastest growing developmental disorder in the United States, or event the whole world. In late 2011, BGI and Autism Speaks jointly launched the Autism Genome 10K Project, which involves fifty institutions from 19 countries. In Phase one, 200 autistic children and their parents - were now sequenced 99 Canadian family members. Sequencing of 2,800 families (Phase 2) and 7000 families (phase 3) were in the pipeline. Wang said, "We expect our research can advance new effective treatments to improve the lives of individuals and families with autism."

Schizophrenia is a multifactorial disorder with a major genetic component that is highly polygenic. Dr. Anders D. Brglum from Aarhus University reported his genome-wide study of association and gene-environment interaction in Schizophrenia. Dr. Lars Bullinger from University Hospital of Ulm, delivered a talk themed "Genomics in Acute Myeloid Leukemia (AML) Clinical Translation of Findings" provided a case-in-point on translating research to application.

Previously, the molecular test would have been the final step in the diagnostic journey. "All this will now change." stated by Dr. Han G. Brunner from Radboud University Medical Center Nijmegen. He shared his experiences and lessons from an exploratory study on 500 patients with numerous different disease problems. The molecular test based on exome sequencing will help to greatly reduce doctor's delay, unnecessary invasive, costly and burdensome procedures, and allowi
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Contact: Jia Liu
liujia@genomics.cn
BGI Shenzhen
Source:Eurekalert

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