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Introduction
Estimation of contributing genetic and environmental factors in complex diseases is challenging since the effect of a single factor might be confounded by others. Nonetheless, the genetic dissection of complex diseases can be aided by distinctions between gene identification and gene effect characterization. My research is focused on investigating heterogeneity in oligogenic diseases with neuronal defects, specifically on glaucomatous neurodegeneration, neuromuscular disorders and dementia. I use an integrative approach of high throughput omics backed with functional investigations. I believe this would lead to a deterministic path of genomic medicine and be beneficial to patients suffering from these diseases.
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