Geneticist, product manager & photographer #humangenetics #moleculardx #womenshealth #socialmedia. Opinions stated are my own. https://www.linkedin.com/in/agnieszkacaruso/
Agnes Caruso
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#eshg2026 Day 3: Use it or lose it: example of body symmetry in reproductive organs. Pseudogene prevalence across evolution, here avian and reptiles reflects biological changes, including novel factors CIROP+CIROZ.
I'm presenting our work on longitudinal sperm DNA methylation changes in a cohort of healthy men (P02.012.F) this afternoon in poster session F (15:45-16:45). I look forward to discuss it!
#eshg2026 #DNAmethylation #ageing #epigenetics
Deletion of SMCHD1 gene activates genes across the PWS region. Thus far, all this work has been reported in a mouse model.
#eshg2026
RNA therapies coming up next in presentation by M.C. Lauffer.
#eshg2026
Two different routes to develop therapies. ASO guidelines were created for designing an ASO strategy for your particular variant.
#eshg2026
Allowed to proceed to phase 3 trial using Fast Track regulatory pathway.
#eshg2026
Need guidelines and eligibility of genes and diseases for rare disease antisense therapeutics check these.
#eshg2026
SMCHD1 gene is a mediator of gene repression and has been identified as a potential target.
#eshg2026
A. K. Le Fevre presenting on the strategy to treat PWS. This will be very interesting as thus far there is no treatment just management options.
#eshg2026
