274300 Human Genetics

Lecturer: Dr. Sara Selig

Academic Credits: 3

Method of teaching: Lectures

2.5 hours per week

Course Abstract:

Students will become familiar with many topics related to the field of human genetics. These will include basic principles in human genetics, different modes of inheritance, methods in human molecular genetics and human cytogenetics, different mechanisms of pathology of human genetics diseases, human genetics projects such as the human genome project, 1000 genome project, and more, cancer genetics, approaches for gene therapy, prenatal diagnosis and genetic counseling. All topics will include the newest developments in the field. Ethical issues related to human genetics will also be discussed. The students will be expected to integrate knowledge from different topics in order to understand many aspects of a certain genetic disease.

Learning Outcomes:

  • On successful completion of this module, students should be able to: Identify various types of gene mutations and explain the mechanisms by which they lead to human disease
  • Analyze a pedigree and determine the mode of inheritance
  • Assess the relevance of the structure of the human genome and its different components to the mechanisms of different human genetics disorders
  • Analyze the results of basic genetic testing carried out with polymorphic markers
  • Evaluate methods and techniques described in current literature in human genetics
  • Determine which types of genetic testing can be carried out for different genetic disorders
  • Analyze chromosomal disorders with relation to the expected phenotype and methods for evaluating chromosomal disorders
  • Evaluate which of the newest technologies in the field of genetics such as next generation sequencing, and genome editing technologies can be implemented in specific cases of genetic research and diagnosis
  • Determine approaches for prenatal diagnosis, depending on the genetic disorder
  • Be mindful to ethical issues related to human genetics and genetic counseling


Lecture topics will include:

  • Chromosomal basis of inheritance
  • Patterns of inheritance
  • Molecular tools used in human genetics
  • Genetic variation in populations
  • Human genome organization and gene structure
  • Mutations and polymorphisms
  • The effect of mutation on protein function
  • Microsatellite-expansion diseases
  • Identification of genes underlying genetics diseases
  • Human genome, HapMap and “A 1000 genome” projects
  • Cancer genetics
  • Inborn errors in metabolism
  • Mitochondrial diseases
  • Mendelian diseases with structural protein defects
  • Mendelian diseases with receptor defects
  • Mendelian diseases with transport defects
  • Cytogenetics: methods in classical cytogenetics, molecular cytogenetics, clinical cytogenetics
  • Complex traits and diseases
  • Gene therapy including genomic editing.
  • Prenatal diagnosis – indications, techniques and limitations
  • Genetics counseling
  • Ethics in human genetics


  • Patterns of inheritance
  • Population genetics and Hardy-Weinberg problems
  • Linkage analysis

Grading System:

An exam at the end of the semester will determine the grade of the course (constituting 100% of the final grade).

 Course Requirements & Course Policies

While attendance is not obligatory, students are highly encouraged to attend lectures. Students are expected to be familiar with material taught in previous lectures, since the course is build gradually on accumulating knowledge and lectures integrate material from previous topics. An exam given at the end of the semester will determine the grade of the course. The exam will be composed of 50 multiple choice questions that cover all the topics taught during the semester.

The exam will include in addition to the presentations that appear on the course site, material that was discussed during the lectures and additional information present in the chapters of the recommended textbook, as noted in the syllabus.

In case a student wants to meet with the course coordinator, an appointment can be arranged in advance.

Academic Integrity

During examinations, you must do your own work. Any collaborative behavior during the examinations will result in failure of the exam, and may lead to failure of the course and university disciplinary action.