معرفی
Professor Patrick Chinnery is a leading academic at Newcastle University, holding the rank of Professor with a research focus on mitochondrial genetics, rare diseases, and genomic diagnostics. He plays a pivotal role in the 100,000 Genomes Project, driving innovations in rare disease diagnosis through large-scale genomic analysis.
His research centers on mitochondrial DNA dynamics, neurogenetic disorders, and translational genomics. He investigates heteroplasmy inheritance mechanisms, mitochondrial DNA mosaicism across the lifespan, and the genetic basis of conditions like neuromuscular diseases and neurological complications of infections. His work bridges molecular biology with clinical applications, emphasizing diagnostic improvements for rare diseases.
Analysis of his 15 most recent publications (2021-2025) reveals consistent emphasis on leveraging single-cell technologies and population-scale genomics to decode mitochondrial disease mechanisms. Key trends include heteroplasmy quantification in human embryos, cardiovascular implications of mitochondrial variants, and addressing data diversity gaps in under-represented populations. His research demonstrates strong interdisciplinary collaboration across neurology, ophthalmology, and hepatology.
