AGRICULTURAL
UNIVERSITY OF ATHENS
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Genetics Diseases

Genetics Diseases

Content

• Introduction to disease genetics
• The human genome and the chromosomal basis of heredity
• The Human Genome: Gene Structure and Function
• Tools for human molecular genetics
• Principles of clinical cytogenetics
• Clinical cytogenetics: Disorders of the autosomes and sex chromosomes
• Patterns of single-gene inheritance
• Complex inheritance of common multifactorial disorders
• Genetic variation in populations: mutations and polymorphism
• Mapping and identifying human genes related to diseases
• Hemoglobinopathy as standards of molecular disease
• Molecular, Biochemical, and Cellular Basis of Genetic Disease
• The treatment of genetic diseases
• Developmental genetics and birth defects
• Prenatal diagnosis
• Cancer genetics and genomics
• Personalized medical genetics
• Pharmacogenetics and Pharmacogenomics
• Genetic counselling and risk assessment
• Ethical issues and medical genetics

Learning results

This is a basic course that presents the principles of Genetic Diseases. It aims to
introduce students to the basic approaches for understanding the Genetics of
inherited diseases, genetic diagnostics and modern therapeutic approaches.
It also reports extensively to the genetic, molecular and chromosomal basis of
monogenic inherited diseases, diseases with complex inheritance, and cancer.
Finally, the aim of the course is the understanding of the importance of basic
principles of genetic diseases as a basis for application of diagnosis, personalized
medicine, and novel treatments.
Upon successful completion of this course the student will be able to:

  • Understand the basic concepts of Genetics.
  • Provide insight into the genetic and molecular basis of monogenic and
    complex diseases and cancer.
  • Understand the basic pathogenetic mechanisms of inherited diseases and gain
    knowledge about diagnostic methods and innovative therapeutic approaches.
  • Have extensive knowledge of the basic concepts and applications of
    pharmacogenetics and pharmacogenomics and how individual variations
    affect personalized treatment.
  • Have acquired knowledge for risk assessment in genetic diseases and
    determining recurrence risk.
  • Have an understanding of the ethical dilemmas that arise in medical genetics
    and is able to approach them through a scientific background.
    Upon successful completion of the lab the student:
  • Has acquired knowledge of clinical cases of human genetics diseases.
  • Has a deeper understanding of the applications of genetics and how it dictates the
    medical approach to be followed.
  • Is able to approach genetic diseases in terms of their genetic profile, molecular and
    medical diagnosis, and clinical treatment, treatment and outcome.
  • Has learned about the stress system and the generalized syndrome of resistance in
    glucocorticoids, infantile systemic hyalinosis, genetic and endocrine components in
    sex disorders, the role of epigenetics in childhood abuse and the genetics of cancer.
  • Understands the genetic panels in cancer as well as STR analysis in forensics

Bibliography

Title: MEDICAL GENETICS (7th Ed.)
Author: THOMSON & THOMSON
ISBN: 9789604890620
Publisher: Broken Hill Publishers Ltd. Paschalidis Medical Publications
Year: 2011

Faculty

210529 4372
douni@aua.gr
210529 4323
dimvl@aua.gr
Personal Webpage: darkDNA

NEWSLETTER

Biotechnology is a rapidly advancing discipline which aims at exploitting the progress in life and physical sciences as well as other related fields, in developing new and advanced products, processes and services
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