Detailed molecular and clinical characterization of patients with neurodevelopmental disabilities and genome aberrations
In patients with balanced karyotype aberrations or microdeletions affecting a limited number of genes, a direct link may be found between the genes disrupted and/or being haploinsufficient and the disease phenotype.
A common clinical presentation in these patients is a neurodevelopmental syndrome presenting early in childhood.
Our interdisciplinary approach combines detailed characterization of genomic aberrations using cytogenetics and molecular approaches, and a comprehensive clinical analysis in order to build hypotheses to explain phenotype-genotype correlations, which are explored in follow up experiments.
Thus we diagnose patients and at the same time reveal unique knowledge in cell biology and cell physiology.
Examples from this work
- Misceo et al. 2009. Neurogenetics 10:371-374.
- Misceo et al. 2011. Am J Med Genet 155:403-408.
- Barøy et al. 2013. Orphanet Journal of Rare Diseases 8:3.
- Gamage et al. 2013. Eur J Med Genet 56:361-364.
- Carlsen et al. 2015. Am J Med Genet 167:1890-1896.
Read more about our research on ous-research.no