Alessandra Renieri

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 unisi.it/sites/default/…

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 ema.europa.eu/en/events/comm…

@SalisIlaria Storia di Ilaria salis

È stato un piacere conoscerti e condividere un pezzo di strada insieme, Carola Rackete. Grazie per tutto l’affetto e la solidarietà che hai sempre mostrato nei miei confronti. Grazie per il tuo impegno, l’ispirazione e la coerenza. Ci vediamo nelle lotte! ❤️✊🌱

Proud to see new counsellor students be graduated. Congratulation 👏👏👏

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 unisi.it/didattica/post…

@CFallerini Well done Chiara and Sergio! Proud to have you both in the group of Medical Genetics of University of Siena

@ahoischen Come with us at Banca di Roma restaurant !

Anyone in for lunch today? #eshg2023

@andganna Amazing and inspiring first day in the historical building of Rectorate of University of Siena discussing PRS, rare variants and OMICS neural networks

Great location and even better people!

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

Pazienti con #malattierare: l'#Università di #Siena, con Genetica medica, coordinata dalla prof.ssa #AlessandraRenieri, partecipa al progetto #Screen4Care per accelerare la diagnosi attraverso lo screening genetico dei neonati e l’intelligenza artificiale. bit.ly/3vs78tn

@MalakAbed @GBL_Unit @drHamdiMbarek @LauraGailS @Eva_C_Schulte @chadi_saad_ @_anuragverma @BrentRichards19 Congrats Guillaume!!!🤸‍♀️🤸‍♀️🤸‍♀️next step combination of common SNPs, common coding and rare variants 🥳🥳

@GBL_Unit @drHamdiMbarek @LauraGailS @Eva_C_Schulte @chadi_saad_ @RenieriAle @_anuragverma @BrentRichards19 Congrats Guillaume, Brent and everyone 🎉🎉 . The diversity of the WES/WGS Covid19 hg consortium is so beautiful and powerful. The scientific community needs more diversity in genomic studies . And yes I missed our weekly zoom calls🫣

Happy to announce that this is now out (journals.plos.org/plosgenetics/a…). Huge effort from a large community of scientists, most I met for the first time in 2 years at last week’s @ASHG: 22 cohorts from 12 countries looking at the rarest genetic variants to find drivers of severe COVID.