Education/Conferences

Pediatric Fellows Core Curriculum 

This is a weekly meeting offered to all pediatric subspecialty fellows and residents. By participating in this activity, the participant should be able learn skills regarding fellowship survival, teaching, reflective practices, leadership, as well as critical literature review and responsible conduct in research.

Genetics Journal Club

This is a weekly meeting. By participating in this activity, the participant should be able to identify new diagnostic methodologies and strategies in clinical genetics. The participant should have an awareness of the way in which the application of these to our patient population can be facilitated. 

Clinical and Molecular Genetics Case Review Conference

This is a weekly meeting. By participating in this activity, the participant should be able to describe and review roundtable discussion of the current inpatient / outpatient cases in the areas of cancer, connective tissue, general genetics and metabolic genetics, as well as reviewing current cytogenetic cases. 

Laboratory Genetics and Genomics Lecture Series

  1. Overview of human genetics
  2. Chromosomal basis of disease I
  3. Chromosomal basis of disease II
  4. Molecular basis of disease
  5. Basics of laboratory testing- cytogenetics
  6. Basics of laboratory testing- molecular genetics
  7. ISCN/HGVS nomenclature
  8. Prenatal genetics
  9. Microdeletion/duplication syndromes
  10. Cytogenetics of hematologic neoplasms
  11. Molecular analysis of hematologic neoplasms
  12. Constitutional NGS- bioinformatics pipeline
  13. Variant interpretation CNV
  14. Variant interpretation SNV
  15. Clinical lab QC and regulatory compliance
  16. Clinical genetics/dysmorphology
  17. Genetic counseling
  18. Hereditary cancer syndromes
  19. Inborn errors of metabolism
  20. Newborn screening