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Explorations in Genomics

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Explorations in Genomics

A Journey through Molecular & Cytogenetics Case Studies

March 18, 2025| 10:00-5:00 pm ET | Los Angeles Convention Center | Los Angeles, California | Limited seating – in-person only | Single or Dual track

Immerse Yourself in Hands-On Learning at Our Exclusive Workshop! Essential Training for LGG Certification.

🧬 Hands-On Learning Experience: Dive into Real Clinical Cases!

🔍 Explore Complex Clinical Cases

🔄 Interactive Rotations

⏰ Timed Topic Tables

đź“š Essential Component of ABMGG LGG Alternative Certification Pathway

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Course Details

Description
Join an interactive learning experience that connects theory with practice in genetics and genomics. The Laboratory Genetics and Genomics (LGG) Alternative Certification Pathway offers a workshop focused on enhancing your knowledge and skills in molecular and cytogenetics.

Guided by experienced mentors from the LGG Alternative Certification Pathway faculty, this workshop provides an opportunity to explore complex clinical cases. Together with fellow participants, you will delve into molecular and cytogenetics testing by applying advanced methodologies to practical scenarios.

Throughout the session, faculty members will lead discussions on a variety of clinical cases, examining genotype-phenotype associations, the challenges of different testing methodologies, and approaches to combining cytogenetic and molecular results. Topics will include defining testing guidelines for specific disorders and understanding the details of cytogenetic and molecular nomenclature, offering a comprehensive look at genetic evaluation and problem-solving.

Learning Objectives
By the end of this workshop, participants will have the knowledge and skills to:

  • Select the appropriate molecular and/or cytogenetics methodologies for the evaluation of genetic disorders.
  • Engage in informed discussions on genotype-phenotype associations.
  • Navigate the limitations of various molecular and/or cytogenetic methodologies.
  • Articulate approaches to the integration of cytogenetic and/or molecular results.
  • Establish testing guidelines for specific disorders.
  • Master cytogenetic and/or molecular nomenclature.
  • Implement strategies for the evaluation and troubleshooting of complex cases.

Target Audience
This workshop is designed for Laboratory Genetics and Genomics training program fellows pursuing the ABMGG LGG Alternative Certification Pathway, but all interested learners are welcome. Whether your focus is Clinical Cytogenetics and Genomics or Clinical Molecular Genetics and Genomics, this session offers focused, practical knowledge that directly supports your professional goals and advancement.

Two Tracks
Each track will be 3 hours long with a 1 hour break in between the two parts. Attendees can choose to focus on one track or participate in both. Don't miss this opportunity to engage with real-world cases, network with experienced mentors, and enhance your skills in molecular and cytogenetics methodologies.

Cytogenetics Track (10:00 AM - 1:00 PM)
Delve into pre-analytic cytogenetics, prenatal cytogenetics, cytogenetics of miscarriage/infertility, congenital microarray, and cytogenetics of hematologic malignancies.

Pre-analytic Cytogenetics, Prenatal Cytogenetics Ross A. Rowsey, PhD, FACMG
Nicole Hoppman, PhD, FACMG
Cytogenetics of Miscarriage/Infertility, Congenital Microarray Brynn Levy, PhD, MMedSc, FACMG
Yang Cao, PhD, FACMG
Cytogenetics of Hematologic Malignancies - Myeloid - Lymphoid Gordana Raca, MD, PhD, MS, FACMG
Cinthya Zepeda Mendoza, PhD, FACMG

Solid Tumors - Cytogenetics

Azra Ligon, PhD, FACMG


Molecular Track (2:00 PM - 5:00 PM)
Explore genomic applications, inherited cancers, neurogenetics, repeat expansion disorders, and common Mendelian disorders.

Genomic Applications, Inherited Cancers Heather Mason-Suares, PhD, FACMG
Bryce A. Seifert, PhD, FACMG
Neurogenetics, Repeat Expansion Disorders

Saurav Guha, PhD, MS, FACMG
Arezou Ghazani, PhD, FACMG

Common Mendelian Disorders, Non-mendelian (Imprinting, etc.) Jane Gibson PhD, FACMG
Wei Shen, PhD, FACMG

Solid Tumors - Molecular

Yassmine Akkari, PhD, FACMG

 

Cytogenetics Faculty

Hoppman     Dr. Nicole Hoppman received her PhD in Human Genetics from the University of Maryland School of Medicine in 2007. She then completed fellowships in both Clinical Molecular Genetics and Clinical Cytogenetics at the Mayo Clinic and is board-certified in both specialties by the American Board of Medical Genetics and Genomics (ABMGG). Dr. Hoppman is an Associate Professor of Laboratory Medicine and Pathology at the Mayo Clinic and is a Co-Director of the Genomics Laboratory (combined Clinical Molecular Genetics and Clinical Cytogenetics). Dr. Hoppman is most active in the area of education; she is the Program Director of the Laboratory Genetics and Genomics fellowship at Mayo Clinic, holds the position of Vice Chair of Education in the Division of Laboratory Genetics and Genomics, and is a board member of the American Board of Medical Genetics and Genomics (ABMGG).

Cao

Dr. Yang Cao is an Associate Medical Director of the Clinical Genomics Laboratory and Assistant Professor in the Department of Pathology & Immunology. She is also the Program Director of the Laboratory Genetics and Genomics Fellowship at Washington University School of Medicine in St. Louis. After completing her PhD training in Genetics at the University of Wisconsin-Madison, she went to the Mayo Clinic for ABMGG fellowships in both Clinical Cytogenetics and Clinical Molecular Genetics. Dr. Cao is board-certified in ABMGG Clinical Cytogenetics and Clinical Molecular Genetics. Dr. Cao is actively involved in professional organizations, including the Association for Molecular Pathology, CLSI Document Development Committee, Cancer Genomics Consortium, ClinGen Dosage Sensitivity Working Group and Brain Malformation Expert Panel, American Society of Human Genetics, and American College of Medical Genetics. Her academic interests include clinical education in molecular and laboratory genetics and clinical research in genomic testing for constitutional diseases and somatic conditions.
 levy

Dr. Brynn Levy is a Professor of Pathology and Cell Biology at the Columbia University Medical Center. He is also the Medical Director of the Clinical Cytogenetics Laboratory of the New York Presbyterian Hospital and a Co-Director of the Laboratory of Personalized Genomic Medicine in the Department of Pathology & Cell Biology. Dr. Levy is regarded internationally as an expert in the clinical utility of genomic technologies in reproductive medicine. He has authored multiple books and book chapters and publications on molecular genetics, clinical cytogenetics and molecular cytogenetics and lectured internationally about his experience utilizing Cytogenomic technologies both as a clinical and research tool. His research areas of interest include early prenatal screening using fetal cells and cell-free fetal DNA from maternal circulation, PGD and the etiology of recurrent miscarriage. Dr. Levy is a Co-Investigator of the Multicenter NICHD study that investigated the use of microarrays for prenatal diagnosis and is the Columbia University site Principal Investigator of a NIH-funded study from the Stillbirth Collaborative Research Network (SCRN) that assessed CNVs in stillbirths. Dr. Levy is a past President of the Cancer Genomics Consortium (GCC) and is the PI at Columbia University Medical Center for the GCG Multi-center Quality Control trial that performed cross-platform validation of cytogenomic arrays for cancer diagnostics. Dr. Levy currently serves on the Board of Directors of the American College of Medical Genetics and Genomics (ACMG) Foundation as well as the International Society for Prenatal Diagnosis (ISPD). He is also the Genetics and Genomics Section Editor for the journal Prenatal Diagnosis.

Ligon Dr. Azra Ligon has interests in both inherited and acquired disorders stemming from cytogenetic aberrations. Her research background includes elucidation of both constitutional cytogenetic abnormalities. This work has included the identification of key genes involved in abnormal human development, as well as contribution to several landmark studies in cancer genetics, such as the identification of the tumor suppressor gene, PTEN/MMAC1. She continues to be engaged in the study of genomic changes in both pediatric and adult primary CNS tumors and has also contributed to the analysis of key genomic changes in lymphoma. She led the successful translation of findings from basic research projects into clinical tests that were eventually offered through the BWH Center for Advanced Molecular Diagnostics. Locally, She served as an ABMGG laboratory fellowship Program Director for 20 years, during which time she supervised the training and education of fellows and genetics residents. She has taught in several local, regional, and national courses focused on the genetics of disease. Nationally, she has been active on ACMG and APHMG Committees and has served for several years as an item writer and as Book Chief at the National Board of Medical Examiners (NBME). She served as a member of the ABMGG Board of Directors, including two years as Chair. Finally, she has been engaged in work with the ACGME, where she is part of the Milestones Committee and through which she continues to serve as a member of the Review Committee for Medical Genetics and Genomics.
Raca Dr. Gordana Raca is the Director of the Cytogenomics Section of the Center for Personalized Medicine, in the Department of Pathology and Laboratory Medicine at Children’s Hospital Los Angeles. She is Professor of Clinical Pathology at the Keck School of Medicine at USC. Dr. Raca’s research and clinical interests are focused on genetic and genomic abnormalities in hematologic malignancies, and on the use of cytogenomic and molecular techniques (including Chromosomal Microarrays and next generation sequencing) for detecting copy number changes and balanced rearrangements in genomic DNA. Dr. Raca is the Chair of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee, Past-President of the Cancer Genomics Consortium, Past-Chair of the Cancer Genomics Consortium Education Committee and past-member of the College of American Pathologists Cytogenetics Committee. She also serves on the Children’s Oncology Group Cytogenetics Steering Committee and ClinGen Somatic Working Group.
Rowsey Dr. Ross Rowsey is a Co-Director of the Genomics Laboratory at the Mayo Clinic in Rochester MN. He obtained his PhD in Molecular Biology from Washington State University, followed by training in both Clinical Cytogenetics and Genomics and Clinical Molecular Genetics and Genomics, and is 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 genetics, including screening and diagnostic testing strategies, and in pre-analytical specimen processing/handling. Dr. Rowsey also is highly involved in education, serving as the Associate Program Director for the Laboratory Genetics and Genomics Fellowship in the Genomics Laboratory at Mayo Clinic.
Mendoza Dr. Zepeda Mendoza has a broad background in genomic sciences, with specific training in laboratory genetics and genomics, bioinformatics, and molecular genetics. As a graduate student at Cold Spring Harbor Laboratories, they carried out research on the structure of chromosomes upon the occurrence of copy-number variation. The intricate relationship between genome structure and function prompted them to pursue the study of human disease. As a postdoctoral fellow at Brigham and Women's Hospital and Harvard Medical School, they laid the groundwork for the development of computational tools to aid in the identification of position effects for balanced chromosome rearrangements. This analysis provided answers for the etiology of disease in various individuals who, despite not having pathogenic mutations in coding genes, displayed structural variants affecting genomic regulatory pathways. They took this experience to the clinic by joining the Laboratory Genetics and Genomics fellowship at Mayo Clinic, where they focused on the analysis of complex chromosome rearrangements associated with congenital diseases, structural variation in hematological malignancies (with a focus on B-cell ALL), and the study of molecular signatures of adult diffuse gliomas. After completing the LGG fellowship, they transitioned to a medical director role at ARUP Laboratories, where they also serve as an Assistant Professor at the University of Utah. They are currently a Senior Associate Consultant at Mayo Clinic and also an Assistant Professor, where they have continued their interest in human disease research, its diagnosis, and most importantly, the education of fellows and residents. It is their hope that their academic career and research path helps others find their own.

 

Molecular Genetics Faculty

Akkari Dr. Yassmine Akkari is a Senior Director within the Institute for Genomic Medicine at Nationwide Children’s Hospital and a Professor of Pathology at The Ohio State University College of Medicine. She is triple certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics, Clinical Molecular Genetics and PhD Medical Genetics. On the national level, she has served as the President of the Cancer Genomics Consortium (CGC), the Vice Chair of the CAP/ACMG Cytogenetics resource Committee, and the Chair of the Association of Molecular Pathology (AMP) Training and Education Committee. Currently, she is a member of the WHO/IARC LIMC committee, the Vice Chair of the ACMG's International Outreach and Engagement Committee, the Chair of AMP’s Finance Committee, and is a member of the Children’s Oncology Group Cytogenetics Committee.
Mason Suarez Dr. Mason-Suares is a board-certified Clinical Cytogeneticist and Molecular Geneticist actively involved in diagnostics, translational research, and education. Her clinical roles involve sign-out of cytogenetic assays, with a focus on prenatal diagnosis, and molecular diagnostic assays, with a focus on germline cases. Her educational roles include co-directing the American Board of Medical Genetics and Genomic (ABMGG)-certified Harvard Medical School (HMS) Laboratory Genetics and Genomics Training Program as well as being the site training director for Brigham and Women's Hospital (BWH) Molecular Genetic Pathology fellows at Partners Personalized Medicine, Laboratory for Molecular Medicine (LMM). Furthermore, She collaborates with multiple investigators on different translational research projects with a focus on RASopathies, prenatal diagnostics, and precision medicine.
Ghazani Dr. Ghazani is a board-certified medical geneticist (ABMGG) and clinical scientist with 10 years of experience in clinical genomics and precision oncology and is well-versed in CLIA/CAP genetic testing regulations across academia and industry.
Gibson Dr. Gibson is Pegasus Professor of Pathology and Chair, Department of Clinical Sciences and the Associate Dean for Faculty Affairs at the University of Central Florida College of Medicine. She teaches in the M.D. program, and practices at Nemours Children’s Health Orlando and Delaware. Dr. Gibson is a Founding Fellow of the American College of Medical Genetics (ACMG) and serves as a member of the American Board of Medical Genetics and Genomics Board of Directors, and the Association for Molecular Pathology Board of Directors. She served as a member of the Molecular Genetic Pathology Fellowship Milestones taskforce for the Accreditation Council for Graduate Medical Education (ACGME) and is a current member of the Test Development Committee for the American Board of Pathology.
Guha Dr. Saurav Guha is the Director of Molecular Diagnostics at the New York Genome Center (NYGC) with 8+ years of experience in clinical molecular genetics and diagnostics.
Seifert Dr. Seifert is a Clinical Molecular Geneticist within the National Institute of Allergy and Infectious Diseases (NIAID) Centralized Sequencing Program (CSP). He serves as a member of the Molecular Genetics Subcommittee within the ACMG Laboratory Quality Assurance Committee. Dr. Seifert's research interests involve the identification of molecular diagnoses underlying immunologic phenotypes as well as other phenotypes.
Shen Dr. Wei Shen is board-certified by the American Board of Medical Genetics and Genomics in Laboratory Genetics and Genomics. He currently holds the position of Assistant Professor of Laboratory Medicine and Pathology at Mayo Clinic Rochester, where he also serves as the Associate Director of the Clinical Genome Sequencing Laboratory. He leads the hereditary oncology subdiscipline in the Laboratory Genetics and Genomics Division at Mayo Clinic. Dr. Shen obtained his PhD in Genetics from the University of Wisconsin-Madison, followed by his clinical molecular genetics and clinical cytogenetics fellowship training at the University of Utah and ARUP Laboratories. His clinical areas of focus include cancer predisposition syndromes and the application of genome sequencing in diagnosing rare diseases.

 


 

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