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Genetic Task Force

We decided on 12 genetic disorders to be covered throughout the 4 year curriculum. The disorders were selected based upon the criteria we had determined in the “Integrated Medical Genetics Curriculum Topic Categories” in the past”. These disorders are common; represent a variety of different inheritance patterns (autosomal dominant, autosomal recessive, X-linked, multifactorial, cytogenetic, and acquired cytogenetic abnormalities). The genetic disorders we selected are:

  1. Chronic Myelogenous Leukemia
  2. Cystic Fibrosis
  3. Diabetes
  4. Down Syndrome
  5. Fragile X Syndrome
  6. Gaucher's Disease
  7. Hereditary Cancers
  8. Huntingtons Chorea
  9. Neurofibromatosis
  10. Prader-Willi/Angelman Syndrome
  11. Thalassemia
  12. Turner/Klinefelter Syndrome

We propose these 12 genetic disorders be taught throughout the curriculum in both the first 2 years as well as the clinical rotations. Our next step is to go thought the current curriculum again and determine where these disorders are currently being taught and how we could encourage places for additional teaching.

First and Second Year Rotations


  1. Breast/Colon CA: BRCA1/2 are taught with regards to ethnicity and population genetics
  2. Cystic Fibrosis: Taught with population genetics
  3. Down syndrome: cytogenetic abnormality
  4. Fragile X syndrome: triple repeat
  5. Huntingtons chorea: gain of function discussed
  6. Prader-willi/Angeleman: microdeletion and methylation defects both reviewed
  7. Turner/Klinefelter: cytogenetics discussed

Student presentations consisting of the 12 core disorders.


  1. Breast/Colon cancer
  2. Chronic Myelogenous leukemia
  3. Cystic Fibrosis
  4. Diabetes
  5. Gaucher's disease
  6. Neurofibromatosis
  7. Prader-Willi/Angelman syndrome
  8. Thalassemia
  9. Turner/Klinefelter syndrome


  1. Huntingtons Disease
  2. Colon Cancer
  3. Pedigree analysis

Structure of the Human Body

  • Truncated organ embryology

Host Defense

  • Three lectures on B cell genetics


  • Huntington's chorea , Muscular dystrophy, Alzheimers, Freidrichs ataxia, Retinitis pigmentosa, Down syndrome, Fragile X


Third and Forth Year Rotations

Pediatric Rotation

  • Newborn screening, now including Cystic Fibrosis. We will also review metabolic disorders.


  • Prenatal screen is discussed. Cystic Fibrosis mutations and phenotype are discussed. Fragile X is also discussed in the prospective of presymptomatic screening, clinical phenotype and recurrence risk.

Internal Medicine

  • CML


  • Breast/ovarian, colon cancer

Family Medicine

  • Risk factors, colon cancer (basics)

PCM- 3

  • BRCA1/2 testing, Down syndrome, Thanatophoric dwarfism, CML , genetic counseling



  © 2001 Loyola University Chicago Stritch School of Medicine. All rights reserved.
Please send questions or comments to: Carolyn Jones, M.D., Ph.D.
Updated: 9/07/06... Created: 9/07/06