Roddy Walsh 🇪🇺 🇺🇦
banner
roddywalsh.bsky.social
Roddy Walsh 🇪🇺 🇺🇦
@roddywalsh.bsky.social
Scientist researching genetics/genomics of heritable heart diseases 🧬🫀 | Liberal extremist | Ex-traveller 🌍 | LFC ⚽️ & Munster 🏉 | He/him
There is very little that is liberal about the current incarnation of the VVD. They went too far to the right and ended up with the same fate as every other centre-right party that tried the same. Meanwhile the real liberal party is surging in the polls.
October 28, 2025 at 8:38 AM
IEVs are regularly identified in HCM clinical genetic testing but are currently inadequately classified and reported (as either VUS or likely benign). Important that we move beyond simple Mendelian approaches to incorporate more comprehensive genetic profiling and risk assessment.
August 29, 2025 at 4:46 PM
IEVs can co-occur with rare Mendelian pathogenic variants, where they cause a severe phenotype including ⬆️ MACE, or in isolation where they have milder effects (age at diagnosis and wall thickness between genotype-positive and genotype-negative cases).
August 29, 2025 at 4:46 PM
Comparing >10K HCM cases with ancestry-matched controls, we identified 14 IEVs occurring in 6% of cases. Importantly, in 2/3 of carriers, IEVs were in non-sarcomere genes.

While we focused on Euro-ancestry cases, gnomAD data can highlight variants more prevalent in other populations:
August 29, 2025 at 4:46 PM