2 linked-data-"https:"-"https:"-"https:"-"Keele-University" positions at UCL in United Kingdom

PhD Studentship: Genetic modifiers to untangle disease mechanisms of RFC1 repeat expansion

UCL | London, England | United Kingdom | 2 months ago

. Furthermore, the exact mechanisms linking RFC1 repeat expansions and neurodegeneration remain elusive. Our previous work supports a partial loss-of-function of RFC1 with tissue-specific reduced expression and

PhD Studentship/Fellowship; Parkinson’s Disease, Spastic Paraplegia and Repeat Expansion Disorders: using Long-Read Sequencing to Identify Mechanisms and Disease Pathways

UCL | London, England | United Kingdom | 5 days ago

analysis. Define genetically defined and non-defined PD, MSA, HSP, RED phenotypes. Re-analyse short read exome and genome data. Long-read DNA sequencing and analysis in select genetically negative families