[Genetic disorders in the pediatric population in Orava]

Area of Science:

• Human Genetics
• Population Genetics
• Medical Genetics

Context:

• The Orava region historically featured genetic isolates persisting until the mid-20th century.
• A 5-year screening program assessed genetic pathology in children aged 0-14.
• 1058 children were examined to characterize the genetic landscape.

Purpose:

• To conduct a genetic characterization of the pediatric population in the Orava region.
• To determine the prevalence of various genetic conditions in children.
• To evaluate the impact of past genetic isolation on current genetic health.

Summary:

• Genetically determined conditions were diagnosed in 757 children (1.67%).
• Chromosomal aberrations (0.12%), monogenic diseases (0.43%), and multifactorial conditions (1.06%) were identified.
• Autosomal recessive diseases were noted in 88 children, indicating a shift from isolation.

Impact:

• The study reveals the current prevalence of genetic diseases in Orava's child population.
• Findings suggest the diminishing influence of historical genetic isolates.
• The genetic load is comparable to panmictic populations, indicating genetic diversity.