iiinova — where your digital self keeps evolving

Pilar Cacheiro @pilarcacheiro.bsky.social · 24/06/2026

'We are pushed by technology'. I like a good, simple, irrefutable message. A de Gaetano at the Infrafrontier meeting.

Pilar Cacheiro @pilarcacheiro.bsky.social · 16/06/2026

W Oliveros Diez: The Developmental Genotype-Tissue Expression (dGTex) project pilot data. Importantly many of these genes are downregulated over time so largely missed in adult cohorts. Excited abut this new dataset. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

Concept of digital twins for rare disease based on patient-level multi-omic data #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

Concept of digital twins for rare disease based on patient-level multi-omic data #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

T Wright at the social media committee session, discussing how LinkedIn can be useful to researchers. Humour is very much present. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

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

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

R Fluri. LDB1 de novo variants are associated with ND phenotypes: pathomechanisms differ depending on variant location. Amazing and beautifully presented work. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/06/2026

K Bhosale. RFL variants are associated with a NDD. Beautiful work showing concordant epigenomic and transcriptomic dysregulation. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

D J Adams: Saturation genome editing as a precision tool for variant interpretation in hereditary cancer. - Goal: solve all VUS in 114 csncer driver genes. - It needs to be extremely precise for clinical decision making Another elegant presentation in one of my favourite sessions so far. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

C Trapnell. Beautiful presentation on zebrabish embryo at single-cell resolution. SEASCAPE: Seahub single cell atlas of perturbed embryos "better than an answer- I have tremendous amount of data" #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

S Domcke. Barcoded monoclonal embryoid bodies allow quantification of the consequences of TF perturbations and inter-individual heterogeneity. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

J Veltman. De novo mutations in male infertility. - Monogenic forms of male infertility are largely underexplored and underused in diagnosis - Cohort of 303 patient-parent trios - De novo mutations found in recurrent genes - Enrichment of spliceosome-related genes in pathway analysis #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

S Zuchner. Genome-wide discovery of novel repeat expansion disorders. - Bottle necks to discover more repeat expansion disorders - Pue length variability index as a population measure of STR instability #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

A Tucci: Prevalence of repeat expansion disorders. - Mutation freq ≠ disease freq: disease prevalence model using carrier freq - Pathogenic repeat expansions more freq in genomic databases than expected from clinical prevalence - Two main factors: under ascertainment+incomplete penetrance #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 14/06/2026

R Rademakers: New repeat expansions in FTLD and the evolving view: - Mendelian inheritance - Polygenic model (familial + sporadic) - Two-hit model (sporadic) #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

C Wright: How much variation is present in the average human genome? - around 2-3 P/LP variants in monogenic disease associated genes (AR + AD) - around 180 VUS in monogenic disease associated genes (AD + AR) - 1 de novo variant #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

Chiara Auwerx on the genetic architecture of autism. Beautiful talk. Reporting novel rare variants associations and pleiotropy with other neuropsychistric disorders. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

Me love a good acronym🍪. Fantastic talk by Emma Lundberg on the proteome. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

S. Cannon: Characterising downstream translation initiation as a molecular rescue mechanism for start-loss variants: identified key predective features identified and developed classification workflow. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

H McConkey on the EpiSign-CAN study. Looking beyond the genetic sequence to the epigenome. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

R. Luknarova on Transcriptome analysis to improve rare disease diagnosis: - It helps resolve complex variants - Directly suggests causal gene - 8% diagnostic rate in Solve-RD Consortium #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

Now T. de Bitter on First-tier use of long-read sequencing for germline diagnosis of rare diseases. www.nejm.org/doi/full/10.... #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 13/06/2026

Long read sequencing allows reliable identification of mobile element insertions. Main challenge remains functional characterisation and interpretation. #eshg2026

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Pilar Cacheiro @pilarcacheiro.bsky.social · 15/08/2025

I guess art is there for us to agree or disagree with.

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Pilar Cacheiro @pilarcacheiro.bsky.social · 02/08/2025

If I ever get rich I won't tell anyone, but there will be signs.

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Pilar Cacheiro @pilarcacheiro.bsky.social · 29/07/2025

So long, and thanks for all the fish.

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Pilar Cacheiro @pilarcacheiro.bsky.social · 27/07/2025

Not entirely sure what the lunch menu is, but it sure made fishing look easy.

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Pilar Cacheiro @pilarcacheiro.bsky.social · 25/07/2025

If you were a gannet, where would you want to live?

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Pilar Cacheiro @pilarcacheiro.bsky.social · 01/07/2025

I've been to conference venues with worse views.

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Pilar Cacheiro @pilarcacheiro.bsky.social · 30/06/2025

So many chairs. For people to enjoy themselves. For free. It often feels like you always have to spend money to have fun. Not if you are resourceful. The kind of resources that matter.