

Short Courses | Day 1 | Day 2 | Day 3 | Download Brochure
Friday, February 5
8:30 AM Chairperson’s Opening Remarks
Dalia Cohen, Ph.D., CSO, Rosetta Genomics, Inc.
8:35 Keynote Presentation
Causes and Consequences of microRNA Dysregulation in Cancer
Carlo M. Croce, M.D., Professor, Internal Medicine, College of Medicine & Public Health, The Ohio State University
During the past several years it has become clear that alterations in the expression of microRNA genes contribute to the pathogenesis of most, perhaps all, human malignancies. These alterations can be caused by a variety of mechanisms, including deletions, amplifications or mutations involving microRNA loci, by epigenetic silencing or by dysregulation of transcription factors targeting specific microRNAs. Since malignant cells show dependence on the dysregulated expression of microRNA genes, which in turn control or are controlled by dysregulation of multiple protein coding oncogenes or tumor suppressor genes, these small RNAs provide important opportunities for development of future microRNA based therapies.
9:05 microRNA Polymorphisms and the Future of Personalized Medicine
Prasun J. Mishra, Ph.D., Laboratory of Cancer Biology & Genetics, National Cancer Institute, NIH
Referred to as the micromanagers of gene expression, microRNAs are evolutionarily conserved small non-coding RNAs. Polymorphisms in the microRNA pathway can influence gene regulation and are emerging as powerful tools to study the biology of diseases. Detection of microRNA-polymorphisms can potentially improve diagnosis, treatment and prognosis in patients and has profound implications in the fields of pharmacogenomics and personalized medicine.
9:35 Living in a Sequen-omics World: Data Integration Issues and Challenges
David Sugarbaker, M.D., Chief, Thoracic Surgery, Brigham and Women’s Hospital
DNA sequencing and other “-omics” platforms (e.g., mRNA, microRNA, CGH, exon, SNP, and other arrays) have experienced a technological revolution in throughput and scale over the preceding decade that shows no sign of slowing. However, data storage and processing advances have outpaced the ability to fully integrate the resulting massive quantities of data into biologically meaningful and predictive models to apply to risk estimation, prevention, and cure of human diseases, most notably cancer. In addition, further technological innovation will continue to drive down costs which will exacerbate the problem in the near-term but over the long-term will bring more resources to bear in solving these issues and challenges. This session will provide a comprehensive view of the sequen-omics landscape and identify the key issues that will need to be addressed in the future for these platforms to positively affect human health.
10:05 LNA™ based Universal RT microRNA PCR System. A new Generation High Throughput QPCR Platform Optimized for Development microRNA based Molecular Diagnostic Assays on Clinical FFPE and Blood Serum and Plasma Jacob Ulrik Fog, Ph.D., Scientific Manager, Diagnostic Product Development Division, Exiqon A/S
Using a Locked Nucleic Acid (LNA™) based miRNA detection technology we have developed a high throughput QPCR system for detection of miRNAs in clinical paraffin-embedded tissue as well as blood derived plasma or serum. The use of the LNA™ bases adds critical specificity and sensitivity creating a more robust system for more rapid assay development in the clinical and diagnostic assay development.
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10:20 Coffee Break
11:00 The Onco-SNP and Cancer Risk: microRNA Binding Site Polymorphisms as Biomarkers
Joanne B. Weidhaas, Ph.D., Assistant Professor, Therapeutic Radiology, Yale University
Since microRNAs are global regulators, small aberrations such as SNPs that disrupt their coding sequences or their target binding sites can alter cellular homeostasis and enhance cancer risk. MicroRNA binding site polymorphisms have turned out to be some of the strongest biomarkers of cancer risk, can act as biomarkers of outcome, and may be future targets for therapy.
11:30 Role of microRNA Based Profiling in Determining Tissue of Origin for Carcinoma of Unknown Primary
Gauri Varadhachary, M.D., Associate Professor of Medicine, Department of G.I. Medical Oncology, M.D. Anderson Cancer Center
Carcinoma of unknown primary (CUP) is a heterogenous disease where a patient presents with metastases without an identifiable primary. As more effective cytotoxic and targeted therapies emerge for additional known cancers, accurate identification of CUP subtypes will become increasingly important to the appropriate care of these patients. MicroRNA expression profiling is an emerging tool to help with identification of tissue of origin in patients with CUP.
12:00 PM Luncheon Presentation (Sponsorship Opportunity Available) or Lunch on Your Own
1:00 Chairperson’s Remarks
Kewal K. Jain, M.D., Professor, CEO, Jain PharmaBiotech
1:05 Introduction to the Technologies and their Significance/Relevance for Personalized Medicine
Kewal K. Jain, M.D., Professor, CEO, Jain PharmaBiotech
1:35 A Low Cost Instrument for Microbead-Based Quantitative End-Point PCR and DNA Sequencing
Vera Gorfinkel, Ph.D., Associate Professor, Stony Brook University
We present a novel, low cost instrument which performs microbead-based quantitative end-point PCR and CE based DNA sequencing. The instrument employs ultra fast, single photon sensitive detection of fluorescent signals in capillaries and operates as a module of the hardware/software suite GENOMETRICA - a novel, universal technology platform for molecular biology and medicine.
2:05 CNV Studies in Autism and other Neurological Disorders
Jim Chinitz, Chief Executive Officer, Population Diagnostics, Inc.
Historically, patients having a common complex disease have been lumped together and considered homogeneous according to phenotype. Population Diagnostics (PDx) has led a paradigm shift where appreciation is gaining for the heterogeneity of common disease which is likely caused by highly penetrant rare variants which are multi-genic and independently capable of generating the common phenotype. It is necessary to dissect phenotypes into genotypic differences to understand common disease and to personalize medicine. Beyond SNPs, there is a surprising abundance of structural variation in the genome called Copy Number Variants (CNVs), much of it occurring de novo. Recent studies have revealed causative rare CNV associations in autism, schizophrenia and ALS. In these models, the metrics that define the level of clinical relevance (i.e. odds ratios) of the rare variants is unprecedented, making them ideal candidates as novel biomarkers for predictive tests and beacons for molecular pathways. PDx is discovering and using a new standard of "causative" biomarkers and is paving the way for a next generation of diagnostic, personalized medicine and drug discovery applications.
2:35 Blood-based Diagnostics of Brain Injuries
Uwe R. Müller, Ph.D., VP, Product Development, Banyan Biomarkers, Inc.
Currently no FDA cleared lab tests exist for TBI and the diagnosis is based on complicated and expensive neurological and radio-imaging tests. Banyan has developed novel biomarkers for detection of TBI in the blood of patients within 2 hours of injury. We will present the results of our ongoing clinical studies, and our progress in the development of appropriate assay systems.
3:05 Close of Conference
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