MD-PhD leading one of the biggest Medical Genetics center in Italy at University Hospital in Siena for genetic counselling/test & gene editing in rare diseses.
The Declaration on the European Innovation and Care Ecosystem for Rare and Complex Diseases
‼️ signed today during the High-Level Meeting on Rare Disorders at the European Parliament
👀 Parliament’s endorsement for dedicated resources
Don't miss the opportunity of the last call of the year for enrollment in a PhD position for data mining of LR WGS ONT and another one for gene therapy development at
https://t.co/CxCXR10end
Striking theses for the just graduated genetic cousellors today at University of Siena: Maria Panagidi psychiatric genetic counsellor, Kate Slawski prenatal genetic counsellor, Kate Brady X-linked disorder genetic counsellor 👏👏👏
Starting today the Rett Open Week at University of Siena, offering information on new therapies and visits for patient with Rett syndrome without booking
The Committee for Advanced Therapies (CAT) is organising a workshop on gene editing on Tuesday, 16 September 2025, 10:00 - 17:00 (CEST). Please join us registering at https://t.co/AIH6AgYska
Strong collaboration between patient association AMALE and medical geneticists of Medical Genetics of Siena for phenotype definition (different in males and females) and gene therapy treatment of IQSEC2 disorders, presented by researcher Margherita Baldassarri at SIGU in Padova👏
A new humanised mouse model of Pompe disease and preclinical trial with prime editing presented by our PhD student Katia Mokabari at the Italian Society Human Genetics (SIGU) meeting last week 👏
Proud to hear Elena Pasquinelli describing the last 5 year-experience of the Medical Genetics unit, Siena Italy, on PGT Preimplantation Genetics Test, offered for all Mendelian disorders, and sharing SWOT with colleagues at the national SIGU meeting 👏
Presentation to the Italian Society Human Genetics meeting of the new concept of “intrinsic” synthetic lethality/viability based on the combination of germline genetic susceptibility and clonal evolution by my PhD student Simona Innamorato 👏
Proud to see my young collaborator Giulia Casamassima speaking in Berlino at 9th International Meeting on “Rare disorders of RAS-MAPK pathway” about contribution of secondary rare variants to Neurofibromatosis type 1 clinical variability
Exiting Oncological Patient Day last Saturday at Bernini Hotel in Rome organised by FAVO - Federation of Volunteering Oncological Associations. Together for genetic based personalised therapy and Oncological Networks!
Is August 28 at 2:00 PM CET the dead line for PhD GenOMeC application at University of Siena: 4 positions for gene therapy/gene editing, 1 for NGS cfDNA liquid biopsy, and up to 20 for free themes on bioinformatic genetics and chronic or complex disorders
https://t.co/TPOjb7Bzyk
@andganna Amazing and inspiring first day in the historical building of Rectorate of University of Siena discussing PRS, rare variants and OMICS neural networks
The project “Artificial intelligence meets omic approaches for the prediction of symptoms onset and phenotypic variability in Rett syndrome: towards diagnosis acceleration” is financed by Italian Ministry of Health, first in the ranking of rare diseases! @ERNIthaca@AirettOnlus
@unisiena@AouSenese This month Medical Genetics of Siena, Italy highlights the importance of newborn screening for prevention of rare severe disorders
#screen4care