Elective Years 3 and 4: Medical Genetics and Genomics

Department: Genetics
Title:

Medical Genetics and Genomics

Diversification = R1 Medical Genetics and Genomics

Location: Department of Medical Genetics, 8-53 Medical Sciences Building, University of Alberta
Duration:

Minimum 2 weeks for 3rd and 4th year medical students
All years can shadow

Contact:

University of Alberta Students:  Linda Erick  linda.erick@albertahealthservices.ca or 780-407-7333
Visiting Canadian Medical Students:  visitingelectives@ualberta.ca

Overview:

Available to 3rd and 4th Year medical students

Electives are available in the Department of Medical Genetics.  The elective may involve clinical rotations for general genetics, pediataric or adult genetics. cancer genetics and prenatal genetics, metabologic genetics and neurogentetics.  

Objectives:

KNOWLEDGE
The medical student will be able to demonstrate knowledge concerning:

  • principles of assessment of dysmorphology and syndrome identification
  • principles of management of inborn errors of metabolism
  • awareness of referral resources available for assistance with more complex genetic situations
  • indications and limitations of screening programs for genetic disease, including newborn screening
  • modes of inheritance
  • indications and limitations of prenatal diagnosis
  • indications and limitations of chromosomal microarray, single gene testing, and next generation sequencing (panels, whole exome sequencing)

SKILLS
The medical student will be able to demonstrate the following skills:

  • obtain full developmental history and provide interpretation of a pediatric patient’s development status
  • construction and interpretation of a pedigree (three generations family history)
  • approach to a clinical genetics physical examination
  • counseling with respect to mode of inheritance and recurrence risks.

PROBLEMS
The medical student, using the relevant knowledge, skills and attitudes, will be able to recognize, diagnose, and initiate management of the following problems:

  • the dysmorphic child
  • congenital anomalies, eg. congenital heart disease, cleft lip and palate, hearing loss, skeletal dysplasia
  • common genetic syndromes (eg. Chromosomal: Down syndrome, Turner syndrome, microdeletions/microduplications: 22q11.2 deletion syndrome, single gene disorders: Noonan syndrome, Fragile X, Prader-Willi syndrome, Angelman syndrome, neurofibromatosis, tuberous sclerosis, Marfan syndrome etc)
  • exposure to a possible teratogen
  • developmental delay and intellectual disability
  • prenatal presentation of pediatric disorders
  • approaches to and initial investigations of suspected inherited metabolic diseases,
Suggested References:
Genetics

  • Cassidy SB and Allanson JE (2010). Management of Genetics Syndromes (3rd edition), Wiley-Liss.
  • Jones KL (2013). Smith’s Recognizable Patterns of Human Malformation (7thEdition), Elsevier Saunders.
  • Graham, JM (2007). Smith’s Recognizable Patterns of Human Deformations (3rd Edition), Elsevier Saunders.
  • American Journal of Medical Genetics, Special Issue, Elements of Morphology: Standard Terminology (2009). 149A(1).
  • Reardon (2008). The Bedside Dysmorphologist, Oxford University Press
  • Rimoin D et al (2007). Emery and Rimoin’s Principles and Practice of Medical Genetics (5th edition), Churchill Livingstone.
  • Thompson & Thompson(2007). Genetics in Medicine (7th), B. Saunders Company.
  • OMIM website: http://www.omim.org
  • GeneReviews website: http://www.generevieworg
  • Saul, Robert- Medical Genetics in Pediatric practice, American Academy of Pedatrics, 2013
Metabolics
  • Clarke JTR (2006). A Clinical Guide to Inherited Metabolic Diseases (3rd edition), Cambridge University Press.
  • Saudubray (2012). Inborn Metabolic Diseases (5th Edition), Springer.
  • Lyon G et al (2006). Neurology of Hereditary Metabolic Diseases of Children (3rd edition), McGraw-Hill.
  • Nyhan W and Ozand P (2005).  Atlas of Metabolic (2nd edition), Chapman and Hall Medical.
  • Scriver C et al (2001). The Metabolic and Molecular Basis of Inherited Disease (8th edition), McGraw-Hill. 
Zschocke J and Hoffman GF (3rd edition). Vademecum

Additional Notes: Students need to have Netcare and Connect Care Access
Last Updated: April 20, 2023