Silvia Spena, PhD, board certified specialist in Medical Genetics

Angelo Bianchi Bonomi Haemophilia and Thrombosis Center, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, and Luigi Villa Foundation, Milan, Italy

Dr. Spena is PhD in Molecular genetics applied to the medical sciences and board certified specialist in Medical genetics. She is senior biologist at the Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy since 2015. She was assistant professor at the University of Milan, Italy and lecturer for Molecular and cellular biology, Biology and genetics, and Medical genetics.

Dr. Spena's basic science research has focused on the molecular basis and pathogenetic mechanisms responsible of rare coagulation disorders (afibrinogenemia and Factor XI deficiency) through the identification of new genetic defects and the analysis of their pathogenic role by in vitro expression of mutant proteins and analysis of stability/splicing of aberrant transcripts. Previous research also included genotype-phenotype studies and the development of methodological approaches to increase the genetic diagnosis of a neurodevelopmental disorder (Rubinstein-Taybi syndrome). Recently her research has been focused on the development of a non-invasive prenatal diagnosis of Haemophilia A and finally on the ‘next-generation’ DNA sequencing to understand the genetic predisposition to development of inhibitors in haemophilia and to high levels of FVIII/VWF.

She was recipient of a grant funded in 2017 by the World Federation of Hemophilia for the project “Non-invasive prenatal diagnosis of Hemophilia in male fetal cells circulating in the maternal blood” and she is currently co-PI of a grant funded in 2016 by the Italian Ministry of Health for the project “Identification of novel genetic risk factors located in the conserved haplotype region surrounding the LCT locus on chromosome 2q21”.

Dr. Spena authored and co-authored 25 scientific publications in International journals (Scopus: H index 14, citations 523).

Presentation(s):

• PB0176 - Gene expression profile in severe Hemophilia A patients developing anti-Factor VIII neutralizing alloantibodies

  Sunday, July 10, 2022
  6:30 PM – 7:30 PM

• OC 56.5 - Insight into genetic predisposition to high plasma levels of Factor VIII (FVIII) and von Willebrand Factor (vWF) in a family with venous thrombosis.

  Tuesday, July 12, 2022
  11:45 AM – 12:00 PM