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Department of Molecular and Human Genetics

Genetics Didactic Curriculum for Residents and Fellows

Master
Content

All residents and laboratory fellows participate in a weekly lecture series led by faculty members in the Department of Molecular and Human Genetics. This series includes lectures and interactive workshops covering a wide range of topics including clinical genetics, laboratory diagnostics, and genetic counseling. A video library of all lectures is maintained for the residents and fellows to review when they are preparing for their board examinations.

Block 1: Cytogenetics and Molecular Genetics

  • Molecular Organization of the Genome and Gene Regulation
  • Cell Division and Chromosome Structure
  • Common Aneuploidies
  • Sex Chromosome Aneuploidies
  • Translocations and Inversions
  • Cytogenetic Techniques
  • Microdeletions and Microduplications
  • Array CGH in Clinical Practice
  • Basic Mechanisms of DNA Mutation and Pathogenicity
  • Splicing and Nonsense Mediated Decay
  • Exome Sequencing in Clinical Practice
  • Repeat Expansion Disorders
  • Molecular Genetics Techniques
  • Genomic Imprinting
  • Mosaicism

Block 2: Biochemical Genetics and Skeletal Dysplasias

  • Amino Acid Disorders
  • Urea Cycle Disorders
  • Organic Acidemias
  • Vitamin Disorders
  • Transport Disorders
  • Mitochondrial Disorders
  • Carbohydrate Disorders
  • Fatty Acid Oxidation Disorders
  • Newborn Screening
  • Biochemical Genetics Laboratory Techniques
  • Peroxisomal Disorders
  • Neuro Lysosomal Disorders
  • Skeletal Dysplasias
  • Mucopolysaccharidoses
  • Collagen Biology
  • Management of Skeletal Dysplasias

Block 3:  Cancer Genetics and Adult Genetics

  • Common Disorders in Adult Genetics I
  • Common Adult Disorders II
  • Introduction to Cancer Genetics
  • Hereditary Colon Cancer
  • Marfan Syndrome and Connective Tissue Disorders
  • Rare Cancer Syndromes I
  • AR Cancer Syndromes II
  • Hereditary Breast and Ovarian Cancer
  • Neurogenetics
  • Maternal Genetic Disease
  • Psychiatric Disease
  • Hereditary Sensory and Motor Neuropathies

Block 4: Prenatal Genetics Block

  • Teratogens: Impact on Fetal Development
  • Expanded Reproductive Carrier Screen: Ethnicity vs Panethnic
  • 1st and 2nd Trimester Screening and NIPT
  • Diagnostic Procedures and Fetal Interventions
  • Prenatal Imaging and Genetics of Common Syndromes
  • Preimplantation Genetic Testing
  • Fetal Demise: Work Up and Evaluation
  • Recurrent Pregnancy Loss, Infertility, and Premature Ovarian Failure

Block 5: Pediatric Genetics

  • Genetics of Autism
  • Neural Tube Defects
  • Dysmorphology
  • Genetics of Congenital Heart Disease
  • Craniofacial and Craniosynostosis
  • Genetics of Sexual Differentiation and CAH
  • RASopathies
  • Hearing Loss
  • Overgrowth Syndromes
  • Phacomatoses
  • Hemoglobinopathies
  • Cardinal Signs of Common Syndromes
  • Ciliopathies and Renal Disorders

Block 6:  Population Genetics

  • Population Genetics
  • Population Genetics Workshop
  • Introduction to Bayes Analysis in Genetics
  • Bayes Workshop
  • Pharmacogenomics
  • Database Workshop

Other Genetics Conferences

Genetics residents and fellows attend a series of regularly scheduled conferences, seminars and lectures. Residents and fellows also participate in rotation-specific signout conferences and clinic conferences during their rotations.

Biochemical Genetics Case Review (weekly) – Laboratory directors, biochemical genetics laboratory fellows, metabolic faculty and residents review biochemical laboratory results from the prior week and discuss results and patient management.

Molecular and Human Genetics Research Seminar (weekly) – National and international speakers are invited by faculty within the department to present cutting edge research in the field of genetics.

Case Management Conference (weekly) – The diagnosis and management of selected patients from the general genetics outpatient clinics are reviewed with photographs to highlight exam findings, imaging studies, and laboratory results.

Genetics Grand Rounds (weekly) – Genetics residents and laboratory fellows present an individual clinical case and discuss the diagnostic approach, prognosis and management.

Cytogenetics Conference (monthly) – Faculty and fellows from the Laboratory Genetics and Genomics training program present cases from the cytogenetics laboratory.

Skeletal Dysplasia Case Management Conference (monthly) – Patients from the monthly clinic are reviewed with a radiologist and an orthopedic surgeon, and radiographic findings and management are discussed.