Dr Alistair Pagnamenta

Alistair studied Natural Sciences at Trinity College, Cambridge and went on to do a PhD on mitochondrial disease genetics at UCL, under the supervision of Prof Shamima Rahman.  From 2010-2024 he worked for the Oxford Biomedical Research Centre and was involved with a wide range of projects including an MRC funded study into the genetics of musculoskeletal disorders, where he has been lead analyst and a regular participant in monthly MDT meetings.  In addition to his work on structural variants and other related cryptic variants, he has been involved in several novel disease-gene discovery projects and perhaps the most notable examples include novel conditions linked to biallelic variants in LZTR1, SCUBE3 and VWA1.

In August 2024, Alistair moved to the University of Exeter and is now a senior research fellow based at the RILD building and St Luke's Campus.  His work includes reanalysis of data from the R14 rapid genome sequencing service and other projects related to newborn-screening and estimating disease gene penetrance. Other ongoing interests include complex structural variants and assessing the clinical utility of long-read sequencing.