🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

As part of the ASHG & European Society of Human Genetics (ESHG) Building Bridges Session on Thursday, October 21 from 3:30-5pm EDT, check out "Machine learning approach to untangle host genetics complexity in COVID-19" by Alessandra Renieri! 🦠🧬 #ASHG21

Hoping to see you tomorrow at my talk during ASHG meeting “ Machine Learning approach to untangle host genetics complexity in COVID-19 " ASHG/ESHG Building Bridges:Medical and evolutionary insights into human resistance against pathogens Thursday,October 21 4.05 PM(New York time)

Starting now..

Our new Maching Learning model called “post-Mendelian” and the new severity score IPGS applied to host coding variants helps in COVID-19 prediction of severity and related adjuvant therapy.  ncbi.nlm.nih.gov/pmc/articles/P…

Last Friday graduation of Genetic Counsellor students at University of Siena 👏

Many students from all over the world - USA, Russia Canada, New-Zealand - attending at University of Siena Genetic Counsellors Master, accredited by EBMG👏Third cycle 21-22 genetic-counsellors.unisi.it/en

Indeed now the whole HGI consortium has confirmed the relevance of TLR7 in severe COVID-19 males replicating our study  doi.org/10.7554/elife.… See also for mechanism doi.org/10.1038/s41435… #Covid_19 #TLR7

Pathogen-sugar interactions revealed by universal saturation transfer analysis science.org/doi/10.1126/sc… Great job of Ben Davis (Oxford) clarifying the SARS-CoV2 spike-sugar attachment in early pandemic! The Italian GEN-COVID consortium identified connected host genetic variability

The first in person meeting of the exciting intervene_eu project in the magic presidential hotel HILTON HELSINKI KALASTAJATORPPA brings together Medical Geneticists, Data Scientists and AI experts

Open position for MD (assegno di ricerca con attività assistenziale) at University of Siena on “Translational Medicine for Rare diseases, Oncological diseases and Infectious diseases”. Dead line October 28: unisi.it/albo_pretorio/…

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! ERN-ITHACA Airett Onlus

I was delighted to join a passionate group of professionals and families in optimising the care of individuals with rare neurodevelopmental disorders at #EuroNDD, ERN-ITHACA Sjeldne diagnoser Frambu kompetansesenter for sjeldne diagnoser Gunnar Douzgos Houge

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…

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!

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

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 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 👏

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 👏

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👏

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