Day 1 :
Baylor College of Medicine, USA
Time : 9:30-10:10
C.Thomas Caskey, MD, FACP, FACMG, FRSC (Duke Med 62), Board Certified in Internal Medicine, Clinical and Molecular Genetics. Professor, Department of Molecular & Human Genetics-Baylor College of Medicine which he established in 1971. With Dr. Marshall Nirenberg he discovered the “universality“of the Genetic code & elucidated the mechanism of peptide chain termination. Dr. Caskey discovered 34 disease genes including the understanding of triplet repeat disorders (Fragile X & Myotonic Dystrophy). His STR identification system is internationally used by FBI, Interpol, CIA. In 1994 he became Sr. VP of Drug & Vaccine Development at Merck. Member of NAS, NAM, Royal Society of Canada.
Dr. Caskey is currently directing a program of Precision Medicine with Young Presidents Organization (YPO),Consultant to Human Longevity, and member of the Board of Metabolon. His current research focuses on the application of whole genome sequence and metabolomics of individuals for disease risk and its prevention
DNA sequencing provides a candidate list of genes/ mutations which account for an individual’s family disorder, personal disorder, and risk for medical disorders. It is not uncommon to identify DNA variants (VUS) which are difficult to interpret with regard to disease causation, since such interpretation relies heavily on disease data bases (HMGD/Clinvar/private).
The measurement of blood analytes (750 reality of 1500 detected) examines biochemical function on an individual basis. Three examples of metabolomics utility for DNA sequence interpretation will be presented. These include: 1) R/O VUS as disease causative, 2) Accurately diagnosing inborn error of metabolism both known and newly discovered, 3) identifying pathways and specific gene mutations in twin studies that were undetected by standard bioinformatics DNA based search tools.
These results have led us to utilize both metabolomics and whole genome sequence to achieve precision diagnosis and direct therapy interactions
BioSciKin Co., Ltd, USA
Time : 10:10-10:50
Dr. Dongliang Ge is President of BioSciKin Co., Ltd. and former Director of Bioinformatics at Gilead Sciences. Earlier, he was appointed as Assistant Professor at Duke University. He received his PhD of Biostatistics and Genetic Epidemiology from Chinese Academy of Medical Sciences in 2004. Dr. Ge was named by the Genome Technology as “rising stars” in 2009 and by Phacilitate as the "Top 50 Most Influential People in Big Data" in 2015. His work in the IL28B genetic variants, published in Nature in 2009, has received over 3000 citations to date. In total, his work has received over 15,000 citations.
The biopharmaceutical industry has quickly entered an era when fast evolving mutil-disciplilinary omics technologies, historical precision medicine initiatives, and disruptive bioinformatics techniques synergistically start to provide pivotal and strategic support for new drug development. Unprecedented amount of data is being generated to help discover and develop new generations of medications. Using examples, this talks covers several of the most important bioinformatic considerations in this strategy. How do we efficiently manage the massive amount of data at different levels of precision to ensure a seamless data flow? How do we annotate and present these data to make it more comprehensible and deliverable? How do we design and execute the new clinical trials more efficiently and improve the success rate? Where are we and where are we going in this new precision medicine era?