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Lectures and Practical Training Sessions - Biology for Medical Students

A subsection of these lectures focus on Human Genetics. The lecture series and practical training sessions address the following topics:

Introduction to Human Genetics

• Genetic variability

• Diagnostics

• Numerical chromosome disorders

Genome organization

• Introduction

• Chromosome structure

• Statistics

• Genes & gene structure

• DNA structure and organization

• DNA repair

• The mitochondrial genome

• Variability

Formal genetics

• Terms and symbols

• Mendelian laws

• Autosomal dominant / codominant inheritance

• Multiple alleles

• Autosomal recessive inheritance

• X-linked inheritance

• Epigenetics

• Mitochondrial inheritance

• Multi-factorial inheritance

Mutations

• Gene mutations

• Consequences of gene mutations

• Spontaneous and induced gene mutations

• Mosaics and chimeras

• Mutations in somatic cells

• Detection of mutations

Gonosomes

• X-deactivation

• X-chromosomal (gonosomal) diseases

• SRY

• SHOX

Selection of the diseases and syndromes that are discussed

• Autosomal trisomies 13, 18, 21, triploidy

• Xeroderma pigmentosa, breast / ovarian cancer

• Retinoblastoma, achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, Prader-Willi syndrome

• C21 hydroxylase deficiency, α-thalassemia, Huntington's chorea

• Turner syndrome, Klinefelter syndrome