Held at the Center for Advanced Medical Learning and Simulation (CAMLS), Tampa, Florida

Date of Meeting: June 30 – July 1, 2019

This course does not offer educational credits and does not meet the requirements associated with ABMGG LGG certification.

This course features 19 presentations split between basic principles in Cytogenetics and Genomics and Molecular Genetics and Genomics. 

Overall Learning Objective:

Upon completion of participating in this activity, you should be able to:

• Review new content areas in cytogenetics and genomics specialty
• Review new content areas in molecular genetics and genomics specialty

Cytogenetics and Genomics

1. Mitosis/Meiosis, Nondisjunction/Aneuploidy, Chromosome Structure - Catherine Rehder, PhD, FACMG
2. Chromosome Analysis and Cytogenetic Nomenclature - Julie Gastier-Foster, PhD, FACMG
3. Structural Abnormalities-translocation, inversion, del/dup, abnormal segregation - Catherine Rehder, PhD, FACMG
4. Sex Chromosomes Abnormalities, X-Inactivation - Julie Gastier-Foster, PhD, FACMG
5. Congenital FISH and microarray testing, including UPD - Julie Gastier-Foster, PhD, FACMG
6. HEME I: Introduction to Technology - Adrian Dubuc, PhD, FACMG
7. Heme II: Myeloid Neoplasms - Adrian Dubuc, PhD, FACMG
8. Heme III: Lymphoid Neoplasms - Catherine Rehder, PhD, FACMG
9. Solid Tumors [Breast and HER2 amp; Lung (ALK/ROS/RET)] - Adrian Dubuc, PhD, FACMG

Molecular Genetics and Genomics

1. Normal Structure/Nomenclature/Types of Variation - Elaine Lyon, PhD, FACMG
2. Common Disorders/Screening (CF, Hemophilia, Hemoglobin Disorders, Venous Thromboembolism) -Gerald Feldman, MD, PhD, FACMG
3. Neurogenetic Disorders – (DMD, SMA, CMT, NF1) Elaine Lyon, PhD, FACMG
4. Triplet Repeat Disorders (FX, MD, HD) Cindy Vnencak-Jones, PhD, FACMG
5. Non-mendelian and Identity (Imprinting, Mitochondrial, Identity, MCC) - Gerald Feldman, MD, PhD, FACMG
6. Introduction to Next-Generation Sequencing (NGS) - Elaine Lyon, PhD, FACMG
7. Somatic (FLT3, JAK2, BCR-ABL1, RAS, EGFR) Interpretation of Sequence Variants – Part 1 - Cindy Vnencak-Jones, PhD, FACMG
8. Somatic (FLT3, JAK2, BCR-ABL1, RAS, EGFR) Interpretation of Sequence Variants – Part 2 - Cindy Vnencak-Jones, PhD, FACMG
9. Inherited Cancers and Predisposition screening (Lynch, FAP, BRCA, MEN2) - Julie Gastier-Foster, PhD, FACMG
10. Constitutional NGS (including NIPT); Interpretation of Sequence Variants - Elaine Lyon, PhD, FACMG