Case Review Webinar Series

Your partners at Thermo Fisher Scientific would like to invite you to our case review webinar series. These presentations will focus on some of the most interesting cases giving further evidence that chromosomal microarray remains an important tool in the armamentarium for the investigation of chromosome abnormalities causing a range of congenital and developmental phenotypes.

(*Indicates a mandatory field)

Select the webinars that you would like to view:*

On-demand Webinar: Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS

Speakers:

Catherine Rehder PhD and Kristin Deak PhD

While advances in genomic sequencing techniques have accelerated in the past decade, chromosomal microarray analysis (CMA) remains a valuable tool in the clinical research arsenal. The combination of easy detection and visualization of allele patterns, high resolution copy number analysis, and mosaicism makes CMA a productive and practical technique. Case examples will highlight the unique position that CMA holds in prenatal and postnatal testing, providing resolution to otherwise unsolved clinical questions. These cases will demonstrate the power of using both a SNP-based analysis combined with high resolution DNA copy number analysis in the identification of chromosome abnormalities and genetic aberrations associated with pregnancy loss and genetic syndromes.

About the speakers:

Dr. Catherine Rehder is an Associate Professor of Pathology at Duke University, and Director of the Division of Molecular Pathology, Genetics & Genomics, which encompasses the cytogenetics and molecular diagnostics laboratories. She received her PhD in Human Genetics from Virginia Commonwealth University, and is certified in Clinical Cytogenetics and Clinical Molecular Genetics by the American Board of Medical Genetics and Genomics. Dr. Rehder is a current member of the CAP/ACMG Cytogenetics Committee, and serves on the board of directors of the American College of Medical Genetics and Genomics and the editorial board of Genetics in Medicine. She also chairs the ClinGen Lysosomal Storage Disease Expert Panel. Her primary areas of interest and publication include the reporting practices of genomic testing, Pompe disease, as well as newborn screening and the integration of clinical cytogenetic and molecular data in oncology.

Dr. Kristen Deak is Associate Director of the Duke University Cytogenetics and Molecular Diagnostics Laboratories in the division of Molecular Pathology, Genetics and Genomics. Dr. Deak received her PhD in Genetics and Genomics from Duke University and did her postdoctoral training at the University of Chicago and Duke University. She is board certified in both Clinical Cytogenetics and Molecular Genetics by the American Board of Medical Genetics and Genomics (ABMGG). With a longstanding interest in mentoring future laboratory medical geneticists, Dr. Deak serves as the director for the ACGME-accredited ABMGG Laboratory Genetics and Genomics fellowship program, and she is involved in graduate student and graduate medical education. She is an active participant of the Duke Molecular Tumor Board, and one area of her focus is genomic profiling for targeted therapies in oncology. Additionally, her interests include the use of cytogenetics, microarray, and NGS-based methods for reproductive genetics.

On-demand Webinar: Piecing Together Sex Chromosome Puzzles

Speaker:

Ross Rowsey PhD

Sex chromosome abnormalities represent one of the most common chromosomal abnormalities in live born individuals, occurring in up to 1/500 live births. Additionally, while common sex chromosome abnormalities are typically numerical in nature, there are also examples of significant structural complexity, which may require multiple methodologies to fully appreciate. Sex chromosome research has revealed this complexity can be further complicated by a variety of factors, including mosaicism, sequence similarities between the X and Y chromosomes, specifically in the psuedoautosomal regions, and the repetitive nature of some regions of the sex chromosomes. Utilizing a combination of chromosomal microarray and additional techniques, we will discuss examples of both simple and challenging sex chromosome abnormalities. We will also highlight specific features that are helpful when attempting to clarify complex patterns, and how those patterns tie back to specific genetic mechanisms.

About the speaker:

Dr. Ross Rowsey is a Co-Director of the Genomics Laboratory at the Mayo Clinic in Rochester MN. He obtained his Ph.D. in Molecular Biology from Washington State University, followed by training in both Clinical Cytogenetics and Genomics and Clinical Molecular Genetics and Genomics, and is currently boarded in both specialties by the American Board of Medical Genetics and Genomics. As a Co-Director in the Genomics Laboratory, his interests lie in the field of prenatal and perinatal genetics, including screening and diagnostic testing strategies. Dr. Rowsey also is highly involved in education, serving as the Co-Lead for Allied Health Staff Education and as the Associate Program Director for the Laboratory Genetics and Genomics Fellowship in the Genomics Laboratory at Mayo Clinic.

On-demand Webinar: Using SNP Microarrays to Delineate Uniparental Disomy in Constitutional Samples

Speaker:

Stuart Schwartz, PhD, FACMG

Chromosome microarray analysis (CMA) has been an important technology in cytogenetics over the past decade; it has the ability to detect small copy number gains and losses not seen with standard chromosome analysis. However, research use of the CytoScan HD™ microarray, with both copy number and SNP probes, will also detect alterations involving homozygosity associated with identity by descent and uniparental disomy (UPD).

The purpose of this talk is to examine the importance of UPD in the pathogenesis of human disease and to understand how to determine whether homozygosity suggests the presence of UPD. UPD, in which both homologous chromosomes are inherited from one parent, is important for clinical research as UPD involving chromosomes 6, 7, 11, 14, 15 and 20 is associated with specific clinical syndromes. Large Runs of Homozygosity (ROH) on multiple chromosomes are indicative of consanguinity, whereas a large ROH isolated to just one chromosome may be indicative of UPD. This talk will show how the allele tracks can be used to distinguish isodisomy from heterodisomy. In addition, the SNPs can also detect segmental UPD or mosaic UPD where the homozygosity is only present in a portion of the chromosome or sample. Mosaic UPD may involve the entire genome, rather than just one chromosome. When possible, any UPD suggested/indicated by CMA analysis needs to be confirmed by other molecular techniques such as STR markers or methylation studies. These methods, plus parental studies, will not only confirm the presence of UPD, but also allow for determination of parental origin.

About the speaker:

Dr. Schwartz is board-certified in Cytogenetics, Molecular Genetics and as a PhD Medical Geneticist by the American Board of Medical Genetics. Dr. Schwartz received his PhD in Medical Genetics from Indiana University and did his postdoctoral training at the University of Maryland. He was an Associate Professor at the University of Maryland, a Professor of Genetics at Case Western Reserve University and a Professor of Human Genetics at the University of Chicago, and was the Director of Cytogenetic Diagnostic Laboratories at all three institutions. He is currently an Associate Vice President and the Senior Director of Cytogenetics at Laboratory Corporation of America at the Center for Molecular Biology and Pathology (CMBP). Dr. Schwartz has published over 180 peer-reviewed journal articles and 24 invited chapters. He is a past president of the American Board of Medical Genetics and more recently on the Board and a past president of the Cancer Cytogenomics Consortium. Most recently he was honored as the 2018 recipient of the American Cytogenetics Conference Distinguished Cytogeneticist Award.

On-demand Webinar: SNP Chromosomal Microarray, the allelic difference.

Speaker:

Dr. Elizabeth McCready PhD
Associate Professor in the Department of Pathology and Molecular Medicine at McMaster University and Head of Molecular Cytogenetics, Hamilton Regional Laboratory Medicine Program (HRLMP) Genetics Laboratories, Hamilton, Ontario

Although not originally well highlighted as an advantage of chromosome microarray testing, allelic patterns of single nucleotide polymorphic (SNP) loci have also emerged as an important tool to detect relevant chromosome aberrations that may not be apparent by more classical cytogenetic approaches.

The utility of the SNP variant allele difference pattern to investigate simple and complex chromosome rearrangements is underscored in this seminar through examination of several exceptional cases. The importance of SNP allele patterns to identify regions of homozygosity and possible uniparental disomy will also be explored through examples, highlighting the flexibility and versatility of SNP allelic difference patterns as a complimentary, indispensable tool in the molecular cytogenetic testing tool box.

About the speaker:

Elizabeth McCready is an Associate Professor in the Department of Pathology and Molecular Medicine at McMaster University and Head of Molecular Cytogenetics within the Hamilton Regional Laboratory Medicine Program (HRLMP) Genetics Laboratories, Hamilton, Ontario. She obtained her PhD from the University of Ottawa before completing clinical laboratory fellowships in molecular genetics and cytogenetics. Her primary clinical focus relates to the detection of chromosome aberrations associated with developmental and neuropsychiatric disorders, but she is also interested in molecular oncology and reproductive genetics. Dr. McCready’s research activities are largely translational in nature with particular interest in application of molecular cytogenetic techniques to characterize clinically relevant genetic variants contributing to developmental disorders and to cancer.

First name*

Last name*

Institution*

City*

Country/Region*

Email*