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:
- Chronic Myelogenous Leukemia
- Cystic Fibrosis
- Diabetes
- Down Syndrome
- Fragile X Syndrome
- Gaucher's Disease
- Hereditary Cancers
- Huntingtons Chorea
- Neurofibromatosis
- Prader-Willi/Angelman Syndrome
- Thalassemia
- 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
MCBG
- Breast/Colon CA: BRCA1/2 are taught with regards to ethnicity and population genetics
- Cystic Fibrosis: Taught with population genetics
- Down syndrome: cytogenetic abnormality
- Fragile X syndrome: triple repeat
- Huntingtons chorea: gain of function discussed
- Prader-willi/Angeleman: microdeletion and methylation defects both reviewed
- Turner/Klinefelter: cytogenetics discussed
Student presentations consisting of the 12 core disorders.
MHD
- Breast/Colon cancer
- Chronic Myelogenous leukemia
- Cystic Fibrosis
- Diabetes
- Gaucher's disease
- Neurofibromatosis
- Prader-Willi/Angelman syndrome
- Thalassemia
- Turner/Klinefelter syndrome
PCM-1
- Huntingtons Disease
- Colon Cancer
- Pedigree analysis
Structure of the Human Body
- Truncated organ embryology
Host Defense
- Three lectures on B cell genetics
Neuroscience
- 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.
OB/Gyn
- 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
Surgery
- Breast/ovarian, colon cancer
Family Medicine
- Risk factors, colon cancer (basics)
PCM- 3
- BRCA1/2 testing, Down syndrome, Thanatophoric dwarfism, CML , genetic counseling
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