Genetic Risk for Recessively Inherited Disease (Duchenne Muscular Dystrophy and Congenital Hearing Loss)

Publication ID Published Version
9211 August 13, 2012 1


This resource is a Team-based Learning (TBL) module on genetic risk intended for first year medical students. Principles of medical genetics and approaches to risk assessment are applied to two case-based Application Exercises (autosomal recessive and X-linked recessive). Students are required to construct pedigrees, to make Mendelian risk estimates, and to incorporate relevant principles of medical genetics in a decision-making process. The exercise also addresses issues related to medical ethics and genetic counseling.


Park V, Brescia W, Nishimoto S, Ward J, Pivnick E, Nace G, Chesney R. Genetic Risk for Recessively Inherited Disease (Duchenne Muscular Dystrophy and Congenital Hearing Loss) . MedEdPORTAL Publications; 2012. Available from:

Contains time-sensitive information that will likely be inaccurate, obsolete, or irrelevant by May 09, 2015

Educational Objectives

  1. Given a written family history, be able to construct the pedigree and to apply principles of Mendelian genetics (autosomal recessive and X-linked) to assess carrier risk.
  2. Interpret current, evidence-based information about disease-causing genetic mutations and apply the information to risk assessment in a family.
  3. Apply principles of medical genetics, including mutation-selection balance, locus heterogeneity, and allelic heterogeneity, to assess disease risk for a given clinical scenario.
  4. Use principles of nondirective genetic counseling to evaluate ethical, legal, and family issues in order to formulate a clinical judgment that is evidence-based and ethically sound.


  • X-Linked Recessive, Muscular Dystrophy, Duchenne (MeSH), Autosomal Recessive, Congenital Hearing Loss, DFNB1 Locus, Connexins (MeSH), Recurrence Risk, TBL, Team-based Learning


  • Medical
    • Medical Genetics


  • Interpersonal & Communication Skills
  • Knowledge for Practice

Professional Interest

  • Genetic Counseling
  • Instructional Materials/Methods
  • Medical Ethics

Instructional Methods

  • Case-based Instruction/Learning
  • Team-based Learning (TBL)

Academic Focus

  • Basic Sciences
    • Genetics

Intended Audience

  • Professional School
    • Medical Student

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