I'm grateful for all the scientific exchange at #eshg2025 in a beautiful setting, the city of Milan. Thanks to the organizers @eshg.bsky.social @eshgyoung.bsky.social and geneticists for broadening my horizon like @christiangilissen.bsky.social @cwlaflamme.bsky.social @svergult.bsky.social (1/2)

Repeat expansion detected by @cwlaflamme.bsky.social through methylation, long-read and population data. (@hcmefford.bsky.social lab research, gene name hidden ->unpublished study)
#eshg2025 @eshg.bsky.social #epilepsy #raredisease

Daniella Hock, U Melbourne: proteomics diagnostics in rare disease. Fascinating ECHS1 #epilepsy synonymous + del compound heterozygous variant w/ founder effect/regional polymorphism.
Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics

Musa Mhlanga presenting on non-coding genetics in adaptive immunity. Links to metabolic pathways: glycolysis, OxPhos. Silencing lncRNA as therapeutic inroad in regulatory deficiencies causal for immune deficiencies. #eshg2025 @radboudumc.bsky.social
co-chaired @christeldepienne.bsky.social

Great long-read panel chaired by @christiangilissen.bsky.social ending with insights on de novo assembly with examples of graph visualization.
Wolfram Höps:
"Larger pieces make for an easier puzzle" 🐦
#eshg2025 #genetics #sequencing @pacbio.bsky.social @nanoporetech.com @radboudumc.bsky.social

#dessertsofeshg Raspberry tartlets

📢📢📢 Paper alert 📢📢📢
Proud to present my proof-of-principle for catching novel disease-associated genes with #single-cell co-expression. #epilepsy #neuroprotection #genetics #brain
journals.biologists.com/dmm/article/...

Best coffee award #eshg2025:
ThermoFisher & Lavazza 😋

Grateful to take part in the Brain Awareness Week 2025. #neuroscience #brain #epilepsy

Starting #bluesky with a holiday post #balance

Happy Holidays #doglife #winter