@brunetti_pierri Profile picture

Nicola Brunetti

@brunetti_pierri

Pediatrician and geneticist. Research focused on development of new therapies for genetic diseases

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Nicola Brunetti Reposted

📢 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 @AlphaFriend #Alpha1Awareness

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Nicola Brunetti Reposted

✨Now on demand!✨ #EASLDeepdive on the evolving insights in the role and management of #AATD Watch here 👉easlcampus.eu/webinars/easl-… @EASLNews @KeitelVerena @AlphaCopdDoc @brunetti_pierri @analleo @LiverNotfighter @FrancqueSven


Nicola Brunetti Reposted

Our 2025 postgraduate programmes in Evidence-Based Health Care empower you to integrate top-tier research, clinical expertise, and patient values. Elevate your impact and become a leader in making better-informed healthcare choices. Apply now: ow.ly/2O7g50TCqGJ

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Nicola Brunetti Reposted

📢 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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Great talk by Alfonso D’Alessio at SSIEM2024 in Porto

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Nicola Brunetti Reposted

“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

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Nicola Brunetti Reposted

Paul Gissen is a great speaker and a wonderful advocate for rare disease. Lovely to hear him chatting away with @brunetti_pierri and @JBaruteau37171 in this episode on Liver Directed Gene Therapy.

"#Science is always exciting, #rarediseases are more exciting than common ones in our view, obviously...and that's why we are on it" 👏🏻👏🏻👏🏻 @JIMD_Editors #Podcast



Nicola Brunetti Reposted

📢 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/…

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Nicola Brunetti Reposted

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…

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Nicola Brunetti Reposted

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 @brunetti_pierri @Tigem_Telethon rb.gy/vtucop


Nicola Brunetti Reposted

🔬 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/…

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Nicola Brunetti Reposted

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


Nicola Brunetti Reposted

New podcast: Returning guests, @JBaruteau37171 and @brunetti_pierri (@Tigem_Telethon), joined Paul Gissen (@UCLchildhealth) to discuss liver directed gene therapies. Soundcloud: soundcloud.com/user-109006120… Apple: podcasts.apple.com/gb/podcast/liv… @NSPKU #mRNA #genetherapy #AAV

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Nicola Brunetti Reposted

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…

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Nicola Brunetti Reposted

A NEW @MolTherapy virtual event series is coming next month! Join us for the first FREE event April 23 on targest and biomarkers with @fabianaperna, Tristan Scott (@cityofhope), @brunetti_pierri, + moderator Roland Herzog (@IUMedSchool)! bit.ly/3PF64NU

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Nicola Brunetti Reposted

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders: buff.ly/3Hr7WWa @LingQiLab @brunetti_pierri @MedicineUVA @Tigem_Telethon #CellBiology

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Nicola Brunetti Reposted

Delighted to share our first #visualabstract of 2024 hi-lighting different approaches to liver directed gene therapy. @JBaruteau72268 @brunetti_pierri, Paul Gissen doi.org/10.1002/jimd.1… #genetherapy #genomics

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Nicola Brunetti Reposted

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

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Nicola Brunetti Reposted

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

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