Research interests

Dissecting the genomic causes of intellectual disability (ID) and autism
spectrum disorders (ASD) and their comorbidity in a genetically isolated (inbred) population.

ID and ASD are complex neurodevelopmental disorders which are both highly heritable. The conditions have many risk factors in common, including genetic susceptibility loci. Despite the high heritability of both diseases, causative genetic variants for these disorders remain mostly unknown.

Inbred populations have been used in the past to successfully map rare diseases. The rationale behind this is that inbred populations tend to be genetically homogeneous, therefore some rare disease alleles will be enriched, resulting in more affected homozygote individuals. Recent studies have shown that the analysis of genetic risk factors for complex diseases can also be aided by sampling homogeneous populations. For example, a locus for schizophrenia has been identified in a Basque population, and several loci for affective disorders were found in Northern Sweden. Our study aims to analyze a genetically isolated population to determine loci for ID and ASD.



Complex Trait Genetics

Research output

  1. Disentangling Genetic Risks for Metabolic Syndrome

    Research output: Contribution to journalArticleAcademicpeer-review

  2. The code we share: Leveraging genomic diversity to understand disease

    Research output: PhD ThesisPhd-Thesis - Research and graduation internal

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