CONFERENCE SERIES: Biomarkers and Diagnostics

Recorded at: Molecular Medicine Tri-Conference

Digital Course: Diagnostics Channel

Order DVDDiagnostics Channel DVD Cover About this Product: 

This digital course showcases the best of the Diagnostics Channel at the 2012 Molecular Medicine Tri-Con. Coverage includes improving patient outcomes by adoption of genomic analysis, FDA perspectives on regulation of LDTs and companion diagnostics, next-generation sequencing for the clinic, and the prognostic and predictive value of enumeration and molecular characterization of circulating tumor cells. An overview of genomic screening and carrier detection are also addressed. 




About this Product:
6 Presentations
183 Slides
Over 153 Minutes
Individual: $345
Site License: $1380

Agenda At A Glance: 

The Science behind Wide-Scale Adoption of Genomic Analysis in the Clinic

Nicholas SchorkNicholas J. Schork, Ph.D., Director, Biostatistics and Bioinformatics, The Scripps Translational Science Institute; Professor, Molecular and Experimental Medicine, The Scripps Research Institute


Biography: Dr. Schork is Professor, Molecular and Experimental Medicine, The Scripps Research Institute, and Director of Bioinformatics and Biostatistics at the Scripps Translational Science Institute. Dr. Schork’s interest and expertise are quantitative human genetics and genomics, especially the design and implementation of methodologies to dissect the genetic basis of complex traits and diseases. He has published over 325 scientific articles and book chapters on the analysis of complex, multifactorial traits and diseases. Prior to joining Scripps in 2007, Dr. Schork served for seven years as Professor of Biostatistics and Psychiatry, and Co-Director of the Center for Human Genetics and Genomics at the University of California, San Diego. From 1994 to 2000, he was an Associate Professor of Epidemiology and Biostatistics at Case Western Reserve University in Cleveland, Ohio, and an Adjunct Associate Professor of Biostatistics at Harvard University. During 1999 and 2000, Dr. Schork took a leave of absence to conduct research as the Vice President of Statistical Genomics at the French biotechnology company, Genset, where he helped guide efforts to construct the first high-density map of the human genome. A member of several scientific journal editorial boards, Dr. Schork is a frequent participant in U.S. National Institutes of Health-related steering committees and review boards, and has served on the advisory board of five companies.

FDA Oversight of Laboratory Developed Tests (LDTs): Where Are We? Where Are We Going?

Elizabeth MansfieldElizabeth Mansfield, Ph.D., Director, Personalized Medicine, Office of in vitro Diagnostic Device Evaluation and Safety (OIVD), Center for Devices and Radiological Health (CDRH)


Biography: Dr. Mansfield is the Director of the Personalized Medicine Staff in the Office of In Vitro Diagnostic Devices in the Center for Devices, FDA, where she is developing a program to address companion and novel diagnostic devices. She was previously a Senior Policy Analyst in the Office of In Vitro Diagnostic Devices (OIVD), managing policy and scientific issues. Dr. Mansfield formerly served as the Director of Regulatory Affairs at Affymetrix, Inc, 2004-2006. She previously served in other positions at FDA including Scientific Reviewer, Genetics Expert. Dr. Mansfield received her PhD from Johns Hopkins University, and completed further postdoctoral training at the National Cancer Institute (NCI) and the National Institute for Arthritis, Musculoskeletal, and Skin Diseases (NIAMS).

The Prognostic and Predictive Value of Enumeration and Molecular Characterization

Massimo CristofanilliMassimo Cristofanilli, M.D., F.A.C.P., Professor and Chairman, Department of Medical Oncology, G. Morris Dorrance Jr. Endowed Chair in Medical Oncology, Fox Chase Cancer Center


Biography: M.D. Degree: University La Sapienza, Rome, Italy, 1986; Residency: Internal Medicine, Cabrini Medical Center, New York, N.Y.; Fellowships: Medical Oncology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas; Medical Oncology, University La Sapienza, Rome, Italy; Certifications: European Society for Medical Oncology, 1999 (recertified, 2004); American Board of Medical Oncology, 1999-2009; 2009-2019; American Board of Internal Medicine, 1996-2006; Italian Certification in Medical Oncology, 1990; Special Interests: Locally Advanced and Inflammatory Breast Cancer (IBC), Metastatic Breast Cancer, Endocrine-resistant Disease, Novel Targeted Therapies

How to Translate Next-Generation Sequencing Data into Clinically Useful Information

Faud GwadryFuad Gwadry, Bioinformatics Consultant


Biography: Fuad Gwadry is a mathematician with an eclectic and rich array of experiences that have kept him at the forefront of life sciences research applications and practical implementation throughout his career. International work in Hungary, the US and in Canada has taken Mr. Gwadry from the establishment of his career at NIH and NCI through varied academic and industry positions. During his entire career, Mr. Gwadry has ably applied his mathematical skills to the most cutting-edge problems of the day including the eras of gene expression profiling, microarrays and, most recently, trailblazing work in Next Generation Sequencing at The Center for Applied Genomics, Strand Scientific Intelligence, and the Sequenom Center for Molecular Medicine. During his career, Mr. Gwadry has worked in oncology, CNS disease, toxicology, prenatal diagnostics and more. His wide experience provides a diverse and interesting perspective that is always thought provoking to his audience.

Genetic Testing in the Genomic Era: The Emerging Sea Change in the Genetic Testing Landscape

Bruce KorfBruce R. Korf, M.D., Ph.D., Wayne H. and Sara Crews Finley Chair in Medical Genetics; Professor and Chair, Department of Genetics; Director, Heflin Center for Genomic Sciences, University of Alabama at Birmingham


Biography: Bruce R. Korf, M.D., PhD. Dr. Korf is Wayne H. and Sara Crews Finley Professor of Medical Genetics, Chair, Department of Genetics, and Director, Heflin Center for Genomic Sciences at University of Alabama at Birmingham. Dr. Korf is past president of the Association of Professors of Human and Medical Genetics and immediate past president of the American College of Medical Genetics. He has served on the Board of Scientific Counselors of the National Cancer Institute and is now a member of the Board of Scientific Counselors of the National Human Genome Research Institute. His major interests are the integration of genetics and genomics into medicine and the natural history, genetics, and treatment of neurofibromatosis.

Carrier Detection Using Digital PCR and Resequencing Array

Madhuri HegdeMadhuri Hegde, Ph.D., Associate Professor, Senior Director, Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine


Biography: Dr. Hegde is the Associate Professor/Emory Genetics Lab Scientific Director, Sr. Director, Emory Genetics Lab, and Molecular Lab. Her areas of specialty and interest are muscular dystrophy, mental retardation, and novel and high throughput methodologies to detect sequence variation. The focus of her laboratory is to develop and perform comprehensive mutation analysis and interpretation for complex or challenging genetic disorders using multiple approaches. The primary focus of her clinical work is the development of high-throughput sequencingstrategies for rare disorders using sequence capture technologies, robotics, next generation sequencing, oligonucleotide array platforms, robotics and using predictive analysis tools and biological testing. Her research is focused on functional analysis of sequence variants in disease associated genes specifically mental retardation and muscular dystrophies and translating what is learned in the basic research laboratory to clinical practice. The ultimate goal is to create an algorithm that will beclinically useful for interpretation of novel sequence variants. They are also interested in identifying novel genes in these diseases using next generation tools and a laboratory developed bridged approach to whole exome sequencing. An understanding of the important changes will eventually provide an opportunity to improve the early detection of disease, and to target more effective treatment. She received a B.Sc. and a M.Sc. from the University of Bombay, India, and a Ph.D. from the University of Auckland, New Zealand. She has post doctoral studies at Baylor College of Medicine and is board certified in Clinical Molecular Genetics.

About the Conference: 

Molecular Med Tri-Con is a five day event where over 3,000 attendees participate in interactive lectures, discussions, various receptions which offer numerous networking and learning opportunities. The Tri-Conference is the leading scientific event to hear differing views and perspectives on poignant issues facing you and our industry today.

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