Download University: Suez Canal University

University: Suez Canal University
Faculty: Faculty of Medicine
PROGRAM SPECIFICATIONS
A) Basic information:
Program Title: Doctorate Degree of Medical Genetics
Department: Histology Department – Genetics Unit
Program type: Single
Coordinator: Prof Dr Somaya Hosny Mahmmoud
External Evaluator: Prof Dr Ezzat Elsobky
Last date of program specifications approval:
B) Professional information:
1) Program Aims:
The program aims to:
 Provide students with advanced knowledge and skills in the subject of medical
genetics that enable them to:
a) Recognize the different patterns of inheritance of genetic disease
b) Understand the basis of mitochondrial diseases and the expected pattern
for mitochondrial inheritance
c) Understand the nature of mutations and permutations and their impact
on human variability and disease
d) Recognize the clinical features of common genetic disorders and explain
their mode of inheritance
e) Understand the different types of chromosomal abnormalities and their
impact on disease
f) Discuss the mechanisms of teratogenesis and the effects of major human
teratogens
g) Recognize and classify congenital anomalies and the approach to
diagnosis of multiple congenital anomaly syndromes
h) Understand the genetic programs that guide normal development
i) Describe the genetic basis of the immune response and discuss a number
of diseases in which immune-related genes contribute to disease
susceptibility
j) Recognize the clinical features of common cancer and explain their
mode of inheritance
k) Discuss the various methods available for treatment of genetic disease
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l) Explain the essential elements of genetic counseling in different genetic
disorders
m) Estimate risk assessment for different genetic disorders
n) Understand the advantages, limitations, and dangers of predictive testing
for genetic disease
o) Recognize the procedures available for prenatal genetic diagnosis and
kinds of diseases that can be detected prenatally
p) Explain the structure and organization of the human genome at the
molecular level
q) Describe the mechanism of gene expression
r) Discuss the nature of mutations and permutations and recognize the
DNA repair system
s) Discuss the application of recombinant DNA techniques to the diagnosis
of genetic diseases
t) Recognize how polymorphisms, gene linkage, and human gene mapping
are used in medicine
u) Mention the principles and strategies in identifying disease genes
v) Describe the current methods used for confirming a candidate gene
w) Explain the principles of molecular and biochemical genetic techniques
used in the diagnosis of genetic disorders
x) Describe how to use gene transfer in studying gene expression and
function
y) Discuss the objectives and achievements of the human genome projects
z) Examine and recognize normal and disease karyotypes
 Enable students to use transferable skills in oral presentations, report writing, and
the use of information technology
 Provide students with enough experience in molecular, cytogenetic and
biochemical genetics and to provide a practical knowledge of the principles and
practice of medical genetics which will allow them to choose and interpret
appropriate genetic investigations, and evaluation of individuals and families with
genetic problem.
2) Intended Learning Outcomes (ILOs):
a) Knowledge and Understanding:
a1- Describe the structure of normal human chromosomes
a2- Explain the structure and organization of the human genome at the molecular
level
a3- Describe the mechanism of gene expression
a4- Discuss the nature of mutations and permutations
a5- Recognize the DNA repair system
a6- Understand the heterogeneity, variability and natural history of molecular
genetic disorders
a7- Discuss the application of recombinant DNA techniques to the diagnosis of
genetic diseases
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a8- Recognize how polymorphisms, gene linkage, and human gene mapping are
used in medicine
a9- Mention the principles and strategies in identifying disease genes
a10- Describe the current methods used for confirming a candidate gene
a11- Explain the principles of molecular and cytogenetic techniques used in the
diagnosis of genetic disorders
a12- Describe how to use gene transfer in studying gene expression and function
a13- Discuss the objectives and achievements of the human genome projects
a14- Examine and recognize normal and disease karyotypes
a15- Recognize the different patterns of inheritance of genetic disease
a16- Understand the factors that affect development of phenotype in single gene
disorders
a17- Understand the basis of mitochondrial diseases and the expected pattern for
mitochondrial inheritance
a18- Understand the concepts and clinical importance of genetic imprinting and
uniparental disomy
a19- Understand the nature of mutations and permutations and their impact on
human variability and disease
a20- Recognize the clinical features of common genetic disorders and explain their
mode of inheritance
a21- Discuss the nature of molecular lesions in various genetic diseases
a22- Understand the heterogeneity, variability and natural history of biochemical
genetic disorders
a23- Understand the different types of chromosomal abnormalities and their
impact on disease
a24- Explain the nature of chromosomal abnormalities in clinical syndromes
associated with cytogenetic disorders
a25- Discuss the mechanisms of teratogenesis and the effects of major human
teratogens
a26- Recognize and classify congenital anomalies and the approach to diagnosis of
multiple congenital anomaly syndromes
a27- Understand the genetic programs that guide normal development
a28- Describe the genetic basis of the immune response and discuss a number of
diseases in which immune-related genes contribute to disease susceptibility
a29- Describe some pharmacogenetic disorders
a30- Recognize the clinical features of common cancer and explain their mode of
inheritance
a31- Explain the role of genetics in the pathogenesis of neoplasms and in the
predisposition to malignancies
a32- Discuss the nature of molecular mechanism in various diseases with genetic
instability
a33- Discuss the various methods available for treatment of genetic disease
a34- Explain the essential elements of genetic counseling in different genetic
disorders
a35- Estimate risk assessment for different genetic disorders
a36- Explain the disease frequency variability among different ethnic groups
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a37- Understand the advantages, limitations, and dangers of predictive testing for
genetic disease
a38- Recognize the existence of and justification for screening programs to prevent
genetic disease
a39- Recognize the procedures available for prenatal genetic diagnosis and kinds
of diseases that can be detected prenatally
a40- Explain "Bayes" rule to assess heritability
a41- Define regression and correlation analysis
a42- Discuss the general steps in statistical hypothesis testing
a43- Illustrate the tests of statistical significance (Chi square, correlation and
regression, variance)
b) Intellectual Skills:
b1- Continuous self learning skills
b2- Self evaluation skills
b3- Critical thinking and judgment skills
b4- Problem solving skills
c) Professional and Practical Skills:
c1- Elicit a comprehensive medical genetic history
c2- Conduct problem solving to illustrate mutation analysis, family pedigrees
and risk analysis
c3- Understand and interpret nomenclature used for the description of gene
mutations and chromosomal abnormalities
c4- Formulate an appropriate differential diagnosis and course of investigation,
including the use of specialized tests through biochemical, cytogenetic, and
molecular genetic laboratories
c5- Determine different techniques of cytogenetic and molecular analysis
c6- Diagnosis and interpretation of a wide range of genetic problems
c7- Understand cytogenetic, biochemical and molecular laboratory reports
1- c8- Training on clinical cases in well-established genetic clinics (inside and
outside our university). The program includes training in cytogenetic, molecular and
biochemical genetic laboratories for at least 3 months in each one. In addition to
training in genetic clinic for at least 7 months.
d) General and Transferable Skills:
d1- Interdepartmental team work
d2- Computer skills
d3- Oral communication
d4- Presentation skills
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3) Academic Standards:
a- External References for Standards (Benchmarks)
According to American Board of Medical Genetics (ABMG) and the
University of Glasgow (Department of Medical Genetics)
b- Comparison of Provision to External References
4) Curriculum Structure and Contents:
a- Program duration: 2 – 5 years
b- Program structure:
First part: No. of hours/week:
Lectures: 2h/week
Tutorial/ Practical: 2h/week Total: 4h/week
Thesis:
Second part: No. of hours/week:
Lectures: 6h/week
Tutorial/ Practical: 26h/week Total: 32h/week
5) Program Courses:
First part:
Compulsory:
Code Course Title No. of
No.
Units
Biostatistics 24
weeks
No. of hours/week
Programme ILOs
Lect. Tutor Pract. covered (by No.)
2h/
2h/
a40- a43
week
week
Second part:
Compulsory:
Code Course Title
No.
Medical
Genetics
Human
Molecular
Genetics
No. of
Units
75
weeks
75
weeks
No. of hours/week
Lect. Tutor Pract.
3h/
3h/
10h/
week week week
3h/
3h/
10h/
week week week
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Programme ILOs
covered (by No.)
a15 – a39
c3 – c6, c10 – c11
a1 - a14
c12 – c13
Thesis:
A faculty senior & junior supervisor from the staff members are nominated by
the department council to prepare a proposal of the thesis protocol after the selection
of a subject that is complementary to the research plans of the department. Data
collection, methodologies, study question, time table, ethical considerations and
budget are formulated by the candidate under guidance of his supervisors into a
research project. The research protocol is then pre-reviewed by four different stuff
members nominated by the Head of the department who share their ideas and
comments with the supervisors to reach to the final form. The research protocol is
discussed then openly in one of the department councils to be approved and diverted
to the Faculty research committee where it is subjected to a critical appraisal to meet
the research basic standards set by the committee. The final approvals of the research
protocol are then issued by the committee of post graduate studies, the Faculty and
University Council to be registered.
6) Program Admission Requirements:
Master of Medical Genetics (signed up at least Good)
7) Regulations for Progression and Program Completion:
First part:
6 months
Assessment (written, oral & practical)
Weight
40%
Second part:
Assessment (written, oral & practical)
Weight 60%
Fulfillment of the logbook of clinical cases (satisfactory) is a prerequisite for exam
entry (attached with the program)
Thesis/Assay
Passing discussion and approval by a committee of external and internal examiners is
required for Doctorate degree
If the student fails to pass one of the components of the program (1st or 2nd part
examination), he has the chance to repeat the examination up to 4 times
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8) Evaluation of Program Intended Learning Outcomes:
Evaluator
1. Senior Students
2. Alumni
3. Stakeholders
4. External
Evaluator
Tool
Questionnaire
Questionnaire
Interviews
Attending exams
(checklist/rating scale)
Sample
Course Coordinator:
Prof. Somaya Hosni
Head of the Department:
Date: / /
Prof. Somaya Hosni
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