alistair pagnamenta
@alistairp2011
Human genetics researcher based at University of Exeter
Now with a nice quote from participant genomicsengland.co.uk/news/elusive-g… thanks to @GenomicsEngland comms for coordinating
More than meets the eye. Non-canonical #FBN1 splice variants may account for ~3% of families with undiagnosed #FTAAD. bit.ly/3IhIN48 #Marfansyndrome @alistairp2011 @SureshSomarathi @LaughingGenome @smbanka @JamesFasham @ProfDBaralle @RDExeter @GenomicsEngland
looking forward to #GRD25 and presenting our work "A palindrome associated duplication-triplication on 16p13.3 causes cerebellar atrophy and progressive ataxia"
Join leading experts working in #RareDisease research at our #GRD25 conference🧬 📅9-11 April 2025 💭Share insights in person Explore the latest #genomics advances accelerating improvements in clinical care for rare disorders. ⏰Register by 11 March: bit.ly/3YzreSC
Back in 2013, we identified KPTN as a cause of NDD, though its function was unclear. By 2017, it was revealed as part of KICSTOR complex alongside KICS2, ITFG2, & SZT2, regulating mTORC1 signaling. We've now published KICS2 linked to NDD, with ITFG2 next. cell.com/ajhg/fulltext/…
Great to see this 3y follow study published & with further delineation if this rare condition. congrats to Sara, @RMaroofian and all
In 2021, we identified a rare VWA1 founder mutation in UK & Western European populations, linked to neuromuscular disorder but elusive due to low genomic coverage. We now report an expanded phenotypic spectrum in a global cohort with this recurrent mutation & other VWA1 variants.