معرفی
Dr Konstantinos Douroudis is a researcher at Newcastle University, focusing on genetic and molecular mechanisms underlying neurodegenerative diseases, inherited ataxias, and placental pathologies. His work bridges clinical genetics with advanced sequencing technologies like exome sequencing to identify novel mutations and understand disease heterogeneity.
Key research areas include:
- Neurological disorders such as dementia with Lewy bodies, primary familial brain calcification, and TRPV4-related neuropathies
- Genetic basis of psoriasis and placental abnormalities in pregnancy
- Functional validation of genetic variants in undiagnosed ataxias and metabolic disorders
He collaborates with international teams on large-scale genomic studies, emphasizing clinician involvement in variant interpretation. His findings advance diagnostic strategies for rare genetic conditions and inform targeted therapies.
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