Intro

Genetic (developmental) disorder

• Rare =

  • 1:2000 (US 1:1500)

  • together ca. 1:17

    Genetic origin

• Mutations

  • Spontaneous = 1:10 bil. nucleotides
  • Mutagens
  • Substitution, insertion, deletion, translocation

• First recognized (Mendelian) genetic disorder = alkaptonuria - homogenistic acid oxidase

  • Tyrosine degradation doesn't work properly

• Monogenic, pologenic

• Timing of de novo mutation

• Genome Aggregation Database - gnomAD - database of genome and exome sequencings