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Academic clinician–scientists risk becoming an endangered species. World View from stephen o'rahilly (its pronounced O-RA-hill-EEE) Cambridge University nature.com/articles/s4159…

Our podcast featuring Dr Nicola Brunetti-Pierri was the first of several focusing on the progress of gene therapy in different metabolic conditions. Listen on Apple: podcasts.apple.com/gb/podcast/gen… Soundcloud: soundcloud.com/user-109006120… Spotify: open.spotify.com/episode/74hZsz… Tigem Telethon

Our second new paper of the day and third of 2024 Liver-directed gene therapy for inherited metabolic diseases Julien Baruteau, Nicola Brunetti, Paul Gissen doi.org/10.1002/jimd.1… #genetherapy

Delighted to share our first #visualabstract of 2024 hi-lighting different approaches to liver directed gene therapy. Jean Baruteau Nicola Brunetti, Paul Gissen doi.org/10.1002/jimd.1… #genetherapy #genomics

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders: buff.ly/3Hr7WWa @LingQiLab Nicola Brunetti UVA School of Medicine Tigem Telethon #CellBiology

A NEW Molecular Therapy virtual event series is coming next month! Join us for the first FREE event April 23 on targest and biomarkers with Fabiana Perna, Tristan Scott (City of Hope), Nicola Brunetti, + moderator Roland Herzog (IU School of Medicine)! bit.ly/3PF64NU

Il 21 aprile torna la Walk of Life di Napoli. Si corre per Elisa e per tutti i bimbi con una patologia genetica rara. Al suo fianco il professor Parenti 🏃🏃‍♀️L’XI edizione comprenderà una passeggiata non competitiva di 3 km e una corsa competitiva di 10 km telethon.it/partecipa/even…

New podcast: Returning guests, JulienBaruteau and Nicola Brunetti (Tigem Telethon), joined Paul Gissen (UCL Great Ormond Street Institute of Child Health) to discuss liver directed gene therapies. Soundcloud: soundcloud.com/user-109006120… Apple: podcasts.apple.com/gb/podcast/liv… NSPKU #mRNA #genetherapy #AAV

Liver-directed gene therapy for inherited metabolic diseases Julien Baruteau, Nicola Brunetti-Pierri, Paul Gissen doi.org/10.1002/jimd.1…

🔬 Programma malattie senza Diagnosi: una risposta per Annalisa Ha convissuto dall'infanzia con un’atrofia ottica bilaterale. Grazie a Fondazione e al Tigem Telethon , ha scoperto di avere una malattia mitocondriale. La sua vita è cambiata. 👉 telethon.it/storie-e-news/…

In ancient Greece, women were forbidden to study medicine for several years until someone broke the law. Born in 300 BC, Agnodice cut her hair and entered Alexandria medical school dressed as a man. While walking the streets of Athens after completing her medical education, she

Nicola Brunetti-Pierri will be presenting at Enzyme and cell therapies at #FEBS2024 today! In a Review in FEBS Letters, she discusses liver-directed gene-based therapy for #Inheritedmetabolicdisorders Nicola Brunetti Tigem Telethon rb.gy/vtucop

📢 La Storia di Violet: ricerca e solidarietà 🔬 Nata con la mucopolisaccaridosi di tipo 6, ha ricevuto terapie importanti nel suo Paese e partecipato in Italia alla sperimentazione messa a punto dall’Istituto Telethon di genetica e medicina. 👉 telethon.it/storie-e-news/…

Paul Gissen is a great speaker and a wonderful advocate for rare disease. Lovely to hear him chatting away with Nicola Brunetti and JulienBaruteau in this episode on Liver Directed Gene Therapy.

“There is only one life and it ends. You have to give meaning to it. Fight for happiness, not just for wealth.” Pepe Mujica, Uruguay’s spartan former president and plain-spoken philosopher, offers wisdom from a rich life as he battles cancer. nyti.ms/3WV7iHT

Great talk by Alfonso D’Alessio at SSIEM2024 in Porto

📢 Il lungo viaggio di Jasper verso la cura Storia di un ragazzo canadese arrivato a Napoli per sottoporsi alla terapia genica sperimentale messa a punto dai ricercatori del Tigem Telethon per la sua rara malattia, la mucopolisaccaridosi di tipo 6. 👉 telethon.it/storie-e-news/…

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📢 Don't forget to register for the #EASLDeepDive on the management of alpha-1 antitrypsin deficiency 📅Wednesday, 6 November at 18:00 CET ✒️easl-eu.zoom.us/webinar/regist… 🏆Get up to 1 CME credit for attending this live webinar! #LiverTwitter #Alpha1 #AATD Alpha-1 Foundation #Alpha1Awareness

✨Now on demand!✨ #EASLDeepdive on the evolving insights in the role and management of #AATD Watch here 👉easlcampus.eu/webinars/easl-… @EASLNews Verena Keitel-Anselmino Alice Turner Nicola Brunetti Ana Lleo @LiverNotfighter Sven Francque