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THURSDAY, APRIL 11
1:25 pm Chairperson’s Opening Remarks
1:30 Validation of Digital PCR for Clinical Diagnostics
Daniel Burke, Ph.D., Senior Research Scientist, National Measurement Institute Australia
Digital PCR has the potential to solve many of the measurement issues that limit the adoption of molecular testing in the clinical setting. One of the major issues is reproducibility of findings between laboratories due in part to inaccuracies in measurement and limited traceability to a higher order standard. Possible ways in which digital PCR may simplify molecular diagnostics through increased accuracy and potential traceability to the SI will be discussed by reference to current clinical applications.
2:00 The Applications of Digital PCR in Cancer Research and Clinical Cancer Management
Elizabeth Day, Researcher & Student Doctor, School of Clinical Medicine, Cambridge University
This presentation will discuss the key advantages (and limitations) of dPCR and demonstrate how we have exploited these to identify novel cancer genes in lung and colorectal cancer. I will also briefly review the applications of dPCR as a diagnostic and prognostic tool, focusing on the identification of rare variants and its potential to work alongside complementary techniques to deliver truly personalised medicine.
2:30 High Resolution Biology: Advantages and Applications of Droplet Digital PCR
Jennifer R. Berman, Ph.D., Senior Scientist, Digital Biology Center, Bio-Rad Laboratories
With recent technological innovations, digital PCR has emerged as a powerful, practical, and affordable technique for everyday researchers looking to solve exceptional questions. QX100 Droplet Digital PCR (ddPCR) empowers digital analysis using a simple, flexible workflow amenable to high throughput. Here we introduce the ddPCR technology and demonstrate ddPCR’s utility for applications requiring high sensitivity and precision, including absolute quantification, copy number discrimination, and rare species detection.
3:00 Refreshment Break with Exhibit and Poster Viewing
» Featured Presentation
3:45 Use of Digital PCR in Oncology: Changing the Paradigm for Systemic Therapy Administration
Ben Ho Park, M.D., Ph.D., Associate Professor of Oncology, Breast Cancer Program; Associate Director, Hematology/Oncology Fellowship Training Program, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
This talk will present current studies using digital PCR to detect residual tumor burden and how this will dramatically alter the rationale behind administering systemic therapies for cancer treatment. We will demonstrate the feasibility of detecting cancer mutations in patients’ blood using digital PCR, and how we are creating DNA markers for following disease in the blood of patients with breast cancer. This will revolutionize how decisions for systemic cancer therapies are made, facilitating tailored individualized treatments for every patient.
4:15 Liquid Biopsies to Monitor Response and Resistance to Targeted Therapies in cancer patients
Giulia Siravegna, Research Scientist, Molecular Medicine, Laboratory of Molecular Genetics, Institute for Cancer Research and Treatment (IRCC), University of Turin
It has long been known that solid tumors release DNA in the blood and the load of circulating tumor DNA (ctDNA) has been correlated to staging and prognosis. However, only recent advances in the sensitivity and accuracy of DNA analysis have allowed for genotyping of somatic changes found in tumors by interrogating ctDNA (Liquid Biopsies). The detection and quantitation of circulating tumor DNA has already proven valuable to track tumor dynamics in real time. Liquid biopsies can also be used to measure genetic changes in the tumor as a consequence of therapy and for the early detection of relapse.
4:45 Developing Non-Invasive Prenatal Testing for single gene disorders: the role of digital PCR
Lyn Chitty, Ph.D., MBBS, MRCOG, Professor, Genetics & Fetal Medicine, Institute of Child Health
Since the identification of cell free fetal DNA (cffDNA) in maternal plasma in the late 1990¹s there has been much work devoted to developing safer prenatal tests based on cffDNA. Early work focused on the identification of genes or alleles present in the fetus but not in the mother, because they were inherited from the father or arose de-novo at conception. With the advent of technologies which enabled sensitive counting, such as digital PCR and next generation sequencing, we have been able to extend the range of conditions diagnosed to include situations where the mutation in question is also present in the mother. In this presentation a description of how digital PCR has enabled development of NIPT for some single gene disorders will be presented, together with how it compares with other approaches. Other aspects of service delivery, such as the need for high quality pretest counselling will also be addressed briefly as this is integral to delivering a robust and comprehensive service.
5:15 Molecular Epidemiological Approaches that Impact Infection Control Decisions
Barry N. Kreiswirth, Ph.D., Professor and Director, TB Center, Public Health Research Institute, UMDNJ-New Jersey Medical School
This presentation will discuss how molecular typing and bacterial comparative genomics can be dovetailed with classical infection control efforts to unravel transmission events in both institutional and community settings and provide future diagnostic methods at the resolution of single nucleotide polymorphisms (SNPs).
5:45 Welcome Reception with Exhibit and Poster Viewing
6:30 Short Course Registration*
7:00-9:00 Dinner Short Course
7:00 Dinner Buffet
7:15 Clinical Uses of Digital PCR and Measurement Issues
Ross Haynes, Biological Science Technician, Biochemical Science Division, National Institute of Standards and Technology
Digital PCR can be used to detect absolute quantity of material, copy number variations, relative expression levels, and rare alleles. The presentation will briefly go over how digital PCR works and anintuitive look at Poisson statistics, and will focus on possible measurement issues. These measurement issues illustrate that some prior knowledge of the material may be required to make good measurements.
8:15 Advanced Applications of Digital PCR
Yann Jouvenot, Ph.D., Staff Scientist, Bio-Rad Laboratories
Since its relatively recent introduction, the field of applications of digital PCR has rapidly expanded to more than just nucleic acid quantification. Some of the more innovative uses of the QX100 ddPCR system will be described in this presentation, outlining the wide range of applications enabled by this technology.
9:00 Close of Course
*Separate registration required.
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