Introduction: Medical Genetics: Minh Thong Le, PHD Department of Biotechnology, Internaltional University

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Introduction: Medical genetics

Minh Thong Le, PhD


Department of Biotechnology, Internaltional University
Term of Medical Genetics
Course Syllabus
• 1. Name of course: MEDICAL GENETICS
• 2. Course code: BT211IU
• 3. Course type: Specialization, elective
• 4. Number of credits: 3 lecture credits + 1 practice
credit
• 5. Prerequisites: Genetics, Human and Physiology,
Molecular Diagnostics, Biochemistry?
• 6. Parallel teaching in the course: None
Course Syllabus
• 7. Course description: Medical genetics is the integration between
the basic science and clinical science, in which the knowledge from
genetics is applied to human medical care. The subject reveals the
relationship between genetic alterations and the disease outcome
in humans. Those alterations encompass from the small scale of the
mutation on genes to the large scale of the abnormal structure or
number of chromosomes. The subject also studies the inheritance
pattern of disease in families as well as provide the methods to
explore the association of the disease to the specific genes or
chromosome locations. From that, the subject also equips the
student's basic knowledge of genetic disease diagnostics, genetic
counseling for suspected families and recently, methods for gene
therapy. Specifically, genetically predisposed to cancer. medical
geneticists care for fetuses, newborns, children, and adults with
inherited conditions, adults with infertility or recurrent
miscarriages, and adults who are genetically predisposed to cancer.
Course Syllabus
• 8. Course objectives: Upon complete this course the
successful students will be able to:
• Understand association between genetic alterations and
inherited disease as well as somatic mutation disease
(cancer).
• Understand the principle and practice of laboratory-based
methods used in the differential diagnosis of genetic disease.
Textbook and scoring
• Text book: Medical genetics, 5th
edition
• Basic: Genetics, Cell biology
• 3 lecture credits + 1 lab credit
• GRADING:
– Midterm Exam:30%
– Final Exam: 40%
– Other: 30% (included:
Presentation +Assignment 15%,
Labworks 15% (performing + oral
exam))
Course Syllabus
• 10. Learning outcomes:
Knowledge:
Have a solid understand of the basic principles of human genetics.
Have a general concept of the genetic and molecular mechanism of some common
genetic disorders.
Understand the relationship between genetic mutation and disease phenotype.
Have an up-to-date knowledge of the impact of recent advances on genetics and
clinical medicine.
Understand the impact of genetic disorders and their management on the patients.
Understand the principle and practice of laboratory-based methods used in the
differential diagnosis of genetic diseases.
Course Syllabus
• Skills
Be able to recognize different forms of genetic disorders.
Be able to work with patients with a genetic condition.
Having ability of working in team, reading and presenting a
scientific issue, explain and answer the scientific questions
relating to medical genetics
Course Syllabus
• 11. Course implementation:
Time: 15 weeks for lecture (3 periods per week) and 6 weeks for
practice (5 periods per week)
Teaching and learning activities:
Classroom activities: Lecturing, question – answer,
discussion
Self-learning: Reading, homework
Teamwork: Group assignment, presentation
Course Outline
• 1 – Introduction of Medical genetics
• 2 - Basic Cell Biology: Structure and Function of Genes and Chromosomes
• 3 - Genetic Variation: Its Origin and Detection
• 4 - Autosomal Dominant and Recessive Inheritance
• 5 - Sex-Linked and Nontraditional Modes of Inheritance
• 6 - Clinical Cytogenetics: The Chromosomal Basis of Human Disease
• 7 - Biochemical Genetics: Disorders of Metabolism
Course Outline
• 8 - Disease-Gene Identification
• 9 - Immunogenetics
• 10 - Genetic Basis of Development
• 11 - Cancer Genetics
• 12 - Multifactorial Inheritance and Common Diseases
• 13 - Genetic Testing and Gene Therapy
• 14 - Genetics and Precision Medicine
• 15 - Clinical Genetics and Genetic Counseling
Lab outline
• Week – Topics
• 1 – Laboratory biosafety – chemical preparation
• 2 – Collecting samples – extract DNA
• 3 - Evaluating extracted DNA - Performing ARMS-PCR for
detection of a mutation.
• 4 - Analyzing PCR results
• 5 - Performing a realtime PCR for detection of mutation
• 6 - Oral report. Interpret the diagnostic result.
The "Angelina Jolie" Effect
• 2013: Genetic diagnosis
• “Faulty” BRCA1 =>
increases risk of
developing breast
cancer (87%) and
ovarian cancer (50%).
• Medical choice: double
mastectomy

Source: AFP/Getty
BRCA1 and BRCA2 are tumour
suppressor genes.

Source: https://www.preventovariancancer.ca
Source: https://www.preventovariancancer.ca
Some messages
• The good from the "Angelina Jolie" effect for the medical
genetics to community
• Mutations in BRCA1/2 does not always lead to cancer
(multifactorial inheretance, vary in type of mutations,…)
• How can scientists discover association between genes and
diseases?
• The value of the finding? Patent?
• The Vietnam sistuation?
What isAllMedical Genetics?
components of the human body are influenced by genes

• Any application of genetics to medical practice


– Study of the inheritance of diseases
– Mapping of disease to specific locations on chromosomes
– Analyses of the molecular mechanisms through which
genes cause disease
– Diagnosis and treatment of genetic disease
• DNA-based diagnosis & gene therapy
– Genetic counseling
Your job???

Source: http://genetics.emory.edu/

Hey!!! Give me your DNA!!!


Genetics: Milestones

Source: https://openi.nlm.nih.gov/
Source: wikipedia
Types of Genetic Diseases
• Single gene disorders
• Multifactorial disorders
• Chromosomal disorders
• Mitochondrial disorders
• Acquired somatic genectic disorders (cancer,..)
• Interaction of genectic factors and environment factors 
epigenetics

Source: Chapter 1, textbook


Source: Chapter 1, textbook
Table 1-1 (cont)

Source: Chapter 1, textbook


Examples of chromosome abnormality

Girl with Turner syndrome


An eight-year-old boy
(missing an X chromosome)
with Down syndrome (Trisomy 21)

Source: wikipedia
Examples: Single-Gene Disorders

Duchenne muscular dystrophy


Source: https://www.thepetitionsite.com Sickle cell disease
Source: wikipedia
Examples: Multifactorial Disorders

Clubfoot
Cleft lip and cleft palate

Source: wikipedia
Rare diseases – rare variants

Common diseases – Common variants

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