OBJECTIVES

Basic Medical Genetics & Clinical Genetics Courses

Human Genetics Elective
If you are a foreign students interested in electives in Sri Lanka then please click here.

Basic Medical Genetics & Clinical Genetics Courses

At the end of both courses students should know:

1. the structure of genes, their organization, function, control and how they segregate.
   
2. how genes are organized into chromosomes, how they replicate in mitosis and meiosis and their transmission from parent to child.
   
3. the nature of mutations and how they contribute to human variability and to disease.
   
4. the process of gametogenesis in the two sexes, the differences in the sexes and their clinical implications.
   
5. the process of sex determination, abnormal sexual development, and the implications of dosage compensation in disease.
   
6. the basis of common cytogenetic diagnostic techniques and their use in the detection of chromosome aberrations - structural and numerical.
   
7. the clinical manifestations of common numeric, structural and mosaic chromosome anomalies.
   
8. the concept and clinical importance of genetic imprinting and uni-parental disomy.
   
9. the patterns of inheritance of autosomal dominant, autosomal recessive, X linked recessive and X linked dominant. Should be familiar with clinical examples in each category.
   
10. the factors that affect the development of the phenotype in single gene disorders, including variable expressivety and penetrance.
    
11. the structure and organization of mitochondrial DNA, the basis of mitochondrial disease and their patterns of inheritance.
    
12. the basis of common techniques in molecular biology and their applications in diagnosis.
    
13. the principles of multifactorial inheritance with examples of normal and abnormal human traits.
    
14. the basic principles of inborn errors of metabolism and of pharmacogentic variations and their general clinical manifestations.
    
15. the role of genetics in the pathogenesis of neoplasms and in the predisposition to malignancies.
    
16. how to recognize and classify congenital anomalies.
    
17. the basis of dermatoglyphics and their variation in health and disease with special reference to their patterns in common disorders.
    
18. the mechanisms of teratogenesis and mutagenesis and the effects of major human teratogens and mutagens.
    
19. the blood groups and HLA. Their basis of inheritance and their role in diagnosis and determination of paternity.
    
20. the use of polymorphisms, linkage and gene mapping in medicine.
    
21. the principles of population genetics and the public health implications of genetic epidemiology.
    
22. the sources and hazards of radiation and their implications in birth defects.
    
23. the role of consanguinity in genetic disease.
    
24. the procedures available for prenatal diagnosis in Sri Lanka and in other countries and what diseases can be diagnosed using these methods, their individual advantages and limitations.
    
25. to carry out a comprehensive physical examination, construct a pedigree and be able to order relevant specialized genetic investigations, comment on the results and make a diagnosis and evaluation of the condition.
    
26. the specialized services available including those of community social organizations and the use of the health service structure to enable the patient to receive the best available care and management.
    
27. the basis of genetic counselling and the counselling of common conditions prevalent in Sri Lanka.
    
28. the uses, limitations and ethical implications of International Population Screening Programmes.

Human Genetics Elective

The overall objective of the Human Genetics Elective is to groom future geneticists capable of independent lifelong learning .

To achieve this overall objective the elective is designed to enable students to:

1. gather knowledge in areas which are not covered in the Basic and Clinical Genetics Courses.

2. develop basic skills in eliciting a genetic history, constructing a pedigree, examining, genetic evaluation and genetic counselling.

3. develop attitudes required for managing genetic diseases and birth defects and for genetic counselling.

The elective consists of the following learning activities: 

Lecturer/Discussions

1. Dysmorphology / Teratogenesis / Perinatal Pathological Postmortem

2. Molecular genetics

3. Cytogenetics

4. Biochemical genetics / Pharmacogenetics

5. Screening for genetic disorders / birth defects

6. Genetic counselling

7. Ethical, Legal,  Social issues in genetics

8. Bioinformatics

9. The Human Genome Project

10. Genetic services / Careers in genetics

Lecture discussions will be held in each topics listed above. At the end of the lecutre discussion students will be assigned an activity, eg. visit to a lab, visit to a ward, observing a perinatal postmortem, literature search, etc.

Audiovisual Lessons

Students can view the following 90 minute videos using the AV equipment provided for that purpose in the Unit during their free time.

1. Syndromes associated with congenital anomalies.

2. Selected genetic disorders.

Problem Based Learning (PBL) Sessions

1. The lazy boy in school.

2. The short girl in class.

3. The baby “girl”

4. The baby with an odd look.

5. The baby with a lump in the back.

6. When will she have her periods?

7. The cancer family.

8. First cousins in love.

9. The lady who has had three abortions.

10. The teenage boy with difficulty in breathing.

PBLs will be conducted according to the usual format that you are familiar with. On the first day the PBL will be clarified and the learning resources informed to students. On the second day students have to make a presentation.

Genetic Clinics / Genetic Consultations

Genetic Clinics and Genetic Consultations on appointment are conducted in the Unit. You can participate in these clinics and consultations as an observer, subject to consent been given by the consultands.

Project

Students will be assigned a project to complete during the elective. The project can be a research study or the development of a patient education leaflet or a poster.