Dr. Gerald Pfeffer

My research focuses on gene discovery in hereditary neuromuscular diseases, and the mechanistic processes which cause disease pathology. This work primarily involves basic science techniques to identify novel single gene disorders. The research programme also integrates clinical research by studying genotype-phenotype relationships, and findings from paraclinical investigations. My work has applicability to the ACHRI theme of "molecular and genetic basis of child and maternal health" since my research studies genetic disorders using modern genomic approaches including deep phenotyping and next-generation sequencing. My clinical practice focuses on adult-onset disorders, but owing to the variable penetrance/expressivity of these conditions, my work is relevant to pediatric genetic disorders as well. For example, my research has focused on mitochondrial disorders, hereditary spastic paraplegia, and distal myopathies, all of which can have child or adult-onset presentations.