K Bhosale. RFL variants are associated with a NDD. Beautiful work showing concordant epigenomic and transcriptomic dysregulation.
#eshg2026
J A Tenorio. Clinical implementation and systematic discovery of DNA methylation episignatures for the diagnosis of rare disorders.
Pleased to see a novel visualisation framework: the Madrid-Plot.
#eshg2026
Concept of digital twins for rare disease based on patient-level multi-omic data
#eshg2026
L Snijders Blok. A pathogenic CCG repeat expansions in CHD3 causes Snijders Blok-Campeau syndrome via epigenetic silencing. Fantastic work and presentation. The work suggests a potentially unrecognised cause of NDD.
Excited about the potential of lrGS.
#eshg2026
R Fluri. LDB1 de novo variants are associated with ND phenotypes: pathomechanisms differ depending on variant location. Amazing and beautifully presented work.
#eshg2026
F Casale: AI for health data and genomics. A cross-scale view of human genetics: from imaging to rare variant tests to patient representations.
Mendelian genes are at the heart of it.
#eshg2026
I love my commute to #eshg2026
E McDonagh: Understanding rare disease with digital twins.
The audience is divided when it comes to the greatest challenge for rare disease diagnosis (I voted for B).
#eshg2026
Concept of digital twins for rare disease based on patient-level multi-omic data
#eshg2026
Computational biologist. Genetics of Rare Diseases, Essential Genes, Statistics, R.
Honesty matters.
Pilar Cacheiro
Pilar Cacheiro
Pilar Cacheiro
Pilar Cacheiro
Pilar Cacheiro
Pilar Cacheiro
Pilar Cacheiro
Pilar Cacheiro
Pilar Cacheiro
Pilar Cacheiro
T Wright at the social media committee session, discussing how LinkedIn can be useful to researchers. Humour is very much present.
#eshg2026
