Last week we participated in the Italian Society of Human Genetics Conference (#SIGU), that this year has taken place in Trieste.
After 2 years of pandemic, the conference was finally in person again!
Our lab distinguished for many success and our Slavica Trajkova has been awarded with the "Nicola Migone" prize, for her talk entitled "Utility of DNA methylation episignatures in neurodevelopmental disorders (NDD)- from variant classification to new diagnosis
and novel episignature discovery". Congratulations!
Also, we presented other two talks:
"Undiagnosed complex cases with neurodevelopmental disorders after exome sequencing- what’s next?", by Slavica Trajkova
"Missense variants in RPH3A cause defects in synaptic function and are associated with a neurodevelopmental disorder characterized by epilepsy.", by Lisa Pavinato
...and three posters:
"An atypical Rubinstein-Taybi syndrome 2 associated with EP300 exon 20 skipping", by Silvia Carestiato
"Stem cells from Human Exfoliated Deciduous teeth (SHED) as innovative in vitro model to study Ataxia-Telangiectasia", by Chiara Giovenino and Simona Cardaropoli
"UBE2I, a novel candidate gene for syndromic neurodevelopmental disorders, involved in Sumoylation pathways", by Verdiana Pullano
Looking forward to the next SIGU conference!
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