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Lady Bird Lake, Austin Texas
Asuragen Corporate Workshops

November 16th
- Grapevine A
Gaylord Texan Hotel & Convention Center
Risk Based Classification
of Leukemias

9:00 - 9:30 am
Dr. Qi Wei, Children’s Hospital Colorado
“The Detection of Childhood ALL Related Fusion Transcripts Using a Multiplexed Panel”

9:30 - 10:00 am
Dr. Guido Marcucci, Ohio State University
“The Utility of Key Biomarkers in Managing AML Patients”

BCR/ABL1 Monitoring
and Reporting on the IS

10:00 - 10:30 am
Dr. Kathleen Murphy, ProPath
“Validation of the BCR-ABL1 Quant Assay”

10:30 - 11:00 am
Dr. Li Cai, LabCorp
“Reporting BCR-ABL1 Results on the International Scale at a National Reference Lab”

Our corporate workshop will illustrate how rapid multiplex molecular research tools could contribute to the optimal management of leukemia patients in the future from risk-based classification at initial diagnosis to monitoring of residual disease with an emphasis on:

  • Development and evaluation of multiplex panels for the detection of fusion transcripts associated with childhood ALL
  • Utility of key biomarkers (including NPM1) in managing AML patients
  • Implementation of a highly sensitive and reliable assay for quantitative measurement of BCR-ABL expression in Philadelphia positive CML
  • Standardization of BCR-ABL quantitative results for reporting on the international scale (IS)

Moderated by: Dr. Emmanuel Labourier

Our Speakers  

Qi Wei, Ph.D.

Dr. Qi Wei

Qi Wei, Ph.D., is the scientific director and the founder of the Molecular Diagnostics Laboratory at The Children’s Hospital of Colorado. Dr. Wei obtained his Ph.D. in human genetics from the University of Denver and his B.S. in Biochemistry from the Eastern China University of Sciences and Technology in Shanghai. He is nationally recognized for his expertise in molecular laboratory techniques and quality assurance and is a frequent speaker at regional and national meetings. The molecular laboratory at Colorado provides molecular analysis in genetics, infectious disease, oncology, and bone marrow transplantation. The laboratory services are used by leading regional and national institutions and research centers as well as for industry-sponsored studies for new molecular diagnostic assays.

Kathleen Murphy, Ph.D.

Dr. Kathleen Murphy

Kathleen Murphy, Ph.D., is the Director of Clinical Laboratory Operations at ProPath. Dr. Murphy holds a Ph.D. in microbiology and immunology from the University of Louisville and a B.S. in medical technology from George Mason University. She completed her postdoctoral fellowship in molecular pathology at Johns Hopkins University School of Medicine. Prior to joining ProPath, Dr Murphy was Associate Professor and Director of JHU’s Molecular Diagnostic Laboratory. Dr. Murphy has won numerous awards and honors including the Young Investigator Award from AMP in 2001. Dr. Murphy is a reviewer for many well-known journals and has authored or co-authored over 65 peer reviewed publications, including about half a dozen on the topic of BCR-ABL1 testing.

Guido Marcucci, M.D.

Dr. Guido Marcucci

Guido Marcucci, M.D., is Professor of medicine and the John B. and Jane T. McCoy Chair in Cancer Research in the Division of Hematology at the Ohio State University (OSU) and the Associate Director of Translational Research at the OSU Comprehensive Cancer Center. Dr. Marcucci chairs the Alliance (former CALGB) Leukemia Correlative Science Committee. He obtained his M.D. from Catholic University of the Sacred Heart, Rome, Italy. He completed his residency in internal medicine at the State University of New York and his fellowship in clinical oncology at Roswell Park Cancer Institute. Dr Marcucci’s research and clinical interests are focused on biology, drug development and prognostic assessment of acute leukemias.

Li Cai, Ph.D.

Dr. Li Cai

Li Cai, Ph.D., is the Discipline Director of Molecular Oncology, Center for Molecular Biology and Pathology at Laboratory Corporation of America (LabCorp). Dr Cai holds a Ph.D. in genetics from Texas A&M University and a BS in genetics and animal breeding from Beijing Agricultural University. She received her medical genetics training in clinical molecular genetics from Harvard Medical School. She is board-certified in clinical molecular genetics by the American Board of Medical Genetics and holds certification in molecular genetic testing and oncology from the New York State Department of Health. She received the National Institutes of Health Individual Research Award for her work on cloning the PXE gene during her fellowship at Harvard Medical School. She has authored numerous peer-reviewed publications and holds patents for her gene discovery research.


AMP Early Bird Session: Friday November 18, 2011
7:00-7:45 AM

Advancements in FMR1 Methylation PCR

Fragile X testing currently requires Southern blot analysis to resolve the methylation status of expanded alleles. However, this method is time-consuming, low throughput, low resolution, and requires large inputs of specimen DNA. In this session, we will describe recent progress in the development and evaluation of PCR technologies with the potential to address these limitations.

Gary Latham, Ph.D.,
Asuragen, Inc.

"Technical Advances in Fragile X: Progress towards Eliminating the Southern Blot"
Jessica K. Booker, Ph.D., FACMG,
University of N. Carolina School of Medicine

"Making the Transition from Southern Blots to PCR-based Methylation Testing"



Asuragen Posters

Thursday, November 18, 1:30 p.m.

No. Investigators Title and Synopsis
G48 Andrew Hadd (Asuragen)
Sarah Nolin (NYS-IBR)
Elizabeth Berry-Kravis (Rush)
Flora Tassone (UC Davis)
Stephanie Sherman (Emory)
AGG Genotyping Reclassifies Expansion Risk for Equivalently Sized Intermediate and Premutation Fragile X Alleles: Outcomes of a Multicenter Study of 469 Mother-Child Transmissions
View This Poster
This poster summarizes results from a multicenter collaborative study on the effect of interrupting AGGs on stability of CGG repeats. The study shows that the number and position of AGGs affect both the risk and magnitude of CGG repeat expansion. The 3’ uninterrupted CGG repeat length may be used to reclassify risk in the 45-69 CGG repeat range
G52 Ru Cao (Asuragen)
Feliciano Ramos (Zaragoza)
Rob Willemsen (Rotterdam)
Elizabeth Berry-Kravis (Rush)
Beyond Southern Blot Analysis: Fragile X Syndrome Case Studies and Analysis of New Sample Types using FMR1 Methylation PCR
View This Poster
This poster presents the evaluation of novel PCR-based technology (FMR1 methylation PCR) to a series of Fragile X case studies for routine CGG sizing, allele-specific methylation assessment and genotype/epitype/phenotype correlations across different sample types.
H16 Emmanuel Labourier (Asuragen)
Chris Gocke (John’s Hopkins)
Mike Griffiths (WMRGL)
Multi Site Evaluation of a Multiplex Assay for the Rapid Detection of Leukemia Associated Fusion Transcripts
View This Poster
This poster describes the evaluation of a qualitative multiplex research assay for the detection of fusion transcripts resulting from chromosomal abnormalities associated with AML, ALL & CML. The assay helped resolve complex cytogenetic cases, positively identified the expected fusion transcript in RNA samples from cases with low blast count, and resulted in 99% agreement (196/198) with standard cytogenetic methods.
Friday, November 19, 2:15 p.m.
TT01 Gary J. Latham (Asuragen) Two Complementary and Scalable PCR-based Workflows Enable Next Generation Sequencing of Cancer-Associated Genes in FFPE Tumor DNA
View This Poster
This poster describes development of PCR-based target enrichment methods for amplifying dozens to thousands of cancer gene loci in tumor specimens on both Illumina and Ion Torrent NGS platforms. The results of this research study reveal sensitive and accurate identification of clinical actionable mutations in cancer-relevant samples.
ST15 Anna Schwarzbach (Asuragen) Development of a miRNA based Classification Model for Differential Diagnosis of Pancreatic Ductal Adenocarcinoma in Fine Needle Aspirates: a Multicentre Study
View This Poster
This poster describes the development and validation of a miRNA-based laboratory developed-test (miRInform™ Pancreas) to aid in the differential diagnosis of PDAC in pancreatic FNA specimens. When used in conjunction with conventional FNA cytology, this testing service allows identification of PDAC with 92.5% accuracy, as compared to 80.2% for FNA cytology alone. The test also enables resolution of indeterminate FNA cytology with an accuracy of 74.1%.

ST27 Elizabeth Mambo (Asuragen)
Karen Rasmussen
(Spectrum Medical Group)
Evaluation of the Prognostic Utility of miRNA and Commonly Proposed Genetic Markers in Stage II Colon Cancer
View This Poster
This poster describes the utility of clinicopathologic features, histological parameters, and multiple genetic markers and miRNA expression in predicting cancer recurrence in stage IIA colon cancer. The research was performed in retrospectively collected colon cancer samples with known clinical outcome. Specific miRNA predicted recurrence independent of grade and other clinicopathologic features.
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