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Matteo Ruggiu, PhD

@rnadoctor.bsky.social
286 followers 360 following 583 posts

Professor, Head of Laboratory of RNA Biology & Molecular Neuroscience, St. John's University, New York, USA. Humanist, Spearfisherman & Freediver. Views my own.

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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 01/10/2026
Skies are buer here.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 29/09/2026
Blog post by BMJ Journals 👇 blogs.bmj.com/jmg/2026/08/...
blogs.bmj.com
Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics (Contributed by Dr Noemi Calandra) - JMG Contact blog
Genetic testing has transformed the diagnosis of hereditary cancer syndromes, but many DNA variants remain difficult to interpret because their biological effects are unknown. This uncertainty can com...
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 20/09/2026
Had fun building two LEGO sets with my kid today: a @ferrarihypercar.bsky.social #499P Le Mans hypercar (the number 51 driven by Pier Guido, Calando, and Giovinazzi) and a #StarWars #BobaFett starship. Boba Fett even gave the 499P a try. He said it was a drive out of this world!
Ferrari 499P hypercar LEGO set and Star Wars Boba Fett starship LEGO set.Ferrari 499P hypercar LEGO set.Star Wars Boba Fett starship LEGO set.Boba Fett takes the Ferrari 499P Le Mans hypercar for a ride.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 26/08/2026
5/5 Read the open access paper here 👉 jmg.bmj.com/content/earl...
jmg.bmj.com
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 26/08/2026
4/5 Real impact: an MLH1 variant (c.117-6T>A) triggered a cryptic splice site & #exon skipping — reclassified VUS → likely pathogenic, matching the patient's Lynch syndrome tumor. A PALB2 variant at a canonical splice site spliced normally despite looking risky on paper. #HereditaryCancer #VUS
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 26/08/2026
3/5 The fix: a #minigene assay. Synthetic DNA spanning the variant is cloned into a #splicing reporter, expressed in cells, then read out by RT-PCR & Sanger sequencing — no patient #RNA needed. Turnaround: ~9-10 days, fast enough for clinical use. #RNASplicing #ClinicalGenetics
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 26/08/2026
2/5 Screening 2,142 patients across 77 cancer genes found path/likely path variants in 18% of cases — but 17% stayed VUS. ~26% of classified variants were predicted to affect #splicing, which AI tools like #SpliceAI & #AlphaGenome often disagree on. #Genomics #PrecisionMedicine
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 26/08/2026
📢🧬 Publication alert! Hereditary #cancer gene panels often turn up "variants of uncertain significance" (VUS) — DNA changes we can't yet call harmful or benign. A new study in J Med Genet tackles one of the hardest VUS types: variants that may disrupt RNA #splicing. 🧵 1/5 #CancerGenetics #VUS
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 23/07/2026
#scientistswhocook: while spearfishing in Sardinia, I caught a nice sea bream, which I oven roasted with garlic, Vermentino white wine, and Myrtle leaves over a bed of sliced potatoes. I catch it, I clean it, I cook it, I eat it. #spearfishing #Sardegna #Sardinia #Italia #Italy #sarago #seabream
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 18/07/2026
#scientistswhocook: while spearfishing in Sardinia, I caught a nice grouper. I used the head to make a pasta sauce, topped with sautéed grouper roe. I catch it, I clean it, I cook it, I eat it. #spearfishing #Sardegna #Sardinia #Italia #Italy #cernia #grouper #spaghetti
Grouper caught spearfishing in Sardinia, Italy.Spaghetti with sauce made using the meat from the grouper's head, topped with sautéed grouper's roe.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 03/07/2026
This is why #IloveVenice: hanging clothes, and a dress that seems to float like a jellyfish. #Venezia #Venice #Italia #Italy
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 02/07/2026
This is why #IloveVenice. #Venezia #Venice #Italia #Italy
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 01/07/2026
This is why #IloveVenice. This impromptu playing/singing. #Venezia #Venice #Italia #Italy
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 30/06/2026
This is why #IloveVenice: Dale Chihuly, Blue and Green Tower, at Palazzo Balbi Valier. #Venezia #Venice #Italia #Italy #Chihuly #art
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 29/06/2026
This is why #IloveTurin: The sense of humor of the torinesi. #Turin #Torino #Italia #Italy
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 29/06/2026
This is why #IloveVenice: The squero of San Trovaso, the last active gondola shipyard in Venice. #Venezia #Venice #Italia #Italy #squero #gondola
Squero of San Trovaso.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 28/06/2026
This is why #IloveVenice: Full moon near the San Pantalon bell tower. #Venezia #Venice #Italia #Italy #campanile
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 27/06/2026
This is why #IloveVenice. #Venezia #Venice #Italia #Italy
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 26/06/2026
This is why #IloveVenice. #Venezia #Venice #Italia #Italy #PiazzaSanMarco
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 25/06/2026
This is why #IloveTurin: La Mole Antonelliana. #Torino #Turin #Italia #Italy #MoleAntonelliana
Mole Antonelliana.Mole Antonelliana.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 24/06/2026
This is why #IloveTurin: public water fountains. #Torino #Turin #Italia #Italy #fontanella
Public water fountain in Turin, Italy.Public water fountain in Turin, Italy.Public water fountain in Turin, Italy.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 23/06/2026
This is why #IloveTurin: the beautiful art-déco front door of Cinema Lux in Galleria San Federico. #Torino #Turin #Italia #Italy #art-deco
Front of Cinema Lux in Galleria San Federico in Turin.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 22/06/2026
Always fantastic to be back in Turin to give a series of lectures on alternative splicing and cancer for masters students and PhD students! Thank you, UniTO for this wonderful opportunity! The name of the room where I gave my presentations is Eraclito; Panta rei! #UniTO #alternativesplicing
Front entrance of MBC2, University of Turin, Italy.Front entrance of MBC, University of Turin, Italy.The name of the room at MBC where I gave my presentations is Eraclito.Me and the masters students.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 22/06/2026
This is why #IloveTurin: Enjoying a cold beer at Open Baladin in Piazzale Valdo Fusi, overlooking the beautiful building that hosts the natural history museum. #Torino #Turin #Italia #Italy #beer
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 21/06/2026
This is why #IloveTurin: And then, when you exit the Gallerie d'Italia, you are in Piazza San Carlo, one of the most beautiful piazze in Italy. #Torino #Turin #Italia #Italy #piazzasancarlo
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 20/06/2026
This is why #IloveTurin: the Gallerie d'Italia in Piazza San Carlo, and the amazing exhibition "The Day May Break" by Nick Brandt @nickbrandtphoto.bsky.social. Devastatingly beautiful and disturbing. #Torino #Turin #Italia #Italy #nickbrandt #photography #GalleriedItalia
Gallerie d'Italia in Piazza San Carlo.Nick Brandt: The Day May Break.Nick Brandt: The Day May Break.Nick Brandt: The Day May Break.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 17/06/2026
This is why #IloveTurin: the beautiful domes of the synagogue in Piazzetta Primo Levi. #Torino #Turin #Italia #Italy #synagogue
Turin Synagogue in Piazzetta Primo Levi.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 16/06/2026
This is why #IloveTurin: Another beautiful door/portone. #Torino #Turin #Italia #Italy #portone
Portone/door.Portone/door.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 14/06/2026
This is why #IloveTurin: A sea of zucchini blossoms at the Sunday farmers market in Piazza Cavour. #Torino #Turin #Italia #Italy #fioridizucca #zucchini
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 13/06/2026
This is why #IloveTurin: "Eco" by Marc Didou in Via Verdi. #Torino #Turin #Italia #Italy #sculpture
"Eco" by Marc Didou.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 12/06/2026
This is why #IloveTurin: these two beautiful paintings @ GAM - Galleria Civica d'Arte Moderna e Contemporanea. "Autoritratto Con La Piuma di Ghiandaia" (1928) by Mario Sturani, and "L'Adultera/La Femme de Claude" (1877) by Francesco Mosso. #Torino #Turin #Italia #Italy #art #painting
Autoritratto Con La Piuma Di Ghiandaia (1928) by Mario Sturani.L'Adultera/La Femme De Claude (1877) by Francesco Mosso.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 11/06/2026
This is why #IloveTurin: this beautiful lamppost in Via F.lli Calandra. #Torino #Turin #Italia #Italy #lamppost
Lamppost in Via F.lli Calandra.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 10/06/2026
This is why #IloveTurin: Ciccio at Il Rospetto pizzeria in Piazza Madama Cristina. #Torino #Turin #Italia #Italy
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 09/06/2026
This is why #IloveTurin: The metal bear sculpture on the side of Teatro Colosseo on Via Giorgio Bidone and a nearby mural. #Torino #Turin #Italia #Italy #sculpture #mural #streetart
Metal bear sculpture on the side of Teatro Colosseo on Via Giorgio Bidone.Mural.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 08/06/2026
That looks amazing!
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Michael Scott Says Oh Wow
ALT: Michael Scott Says Oh Wow
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 08/06/2026
This is why #IloveTurin: Portone del Melograno/Pomegranate door in Via Giovanni Argentero 4. #Torino #Turin #Italia #Italy #portone
Portone del Melograno in Via Giovanni Argentero 4.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 07/06/2026
#OpenHouseTorino 2026. Spot n. 140: the ipogeo underneath Palazzo Carignano.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 07/06/2026
#OpenHouseTorino 2026. Spot n. 119: CX Turin Marconi. View from the roof terrace.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 07/06/2026
#OpenHouseTorino 2026. Spot n. 130: Scalo Vallino.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 07/06/2026
#OpenHouseTorino 2026. Spot n. 135: The Heat Garden by Iren Energia.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 07/06/2026
#OpenHouseTorino 2026. Spot n. 120: Downtown Loft, aka @Ottofinestre on IG.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 07/06/2026
#OpenHouseTorino 2026. Spot n. 117: Consulate of the Socialist Republic of Vietnam.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 07/06/2026
#OpenHouseTorino 2026. Spot n. 107: 25 Verde.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 07/06/2026
#OpenHouseTorino 2026. Spot n. 125: Loft BY8.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 07/06/2026
This is why #IloveTurin: Open House Turin 2026. OpenHouseTorino.it A thread. #OpenHouseTorino #Torino #Turin #Italia #Italy
Open House Torino 2026.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 06/06/2026
This is why #IloveTurin: the beautiful portoni/doors at Via S. Francesco da Paola 25, and Palazzo Ceppi in Via Cavour 16. #Torino #Turin #Italia #Italy #portone
Via S. Francesco da Paola 25.Via S. Francesco da Paola 25.Palazzo Ceppi, Via Cavour 16.Palazzo Ceppi, Via Cavour 16.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 05/06/2026
This is why #IloveTurin: This ladybug 🐞 that landed on me in Piazza Cavour. #Torino #Turin #Italia #Italy #ladybug #nature
Ladybug.Ladybug.Ladybug.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 04/06/2026
This is why #IloveTurin: The "Hoy es Hoy" statue by Mexican artist Javier Marín in Piazza Solferino. #Torino #Turin #Italia #Italy #sculpture
Hoy es hoy, by Javier Marín.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 02/06/2026
This is why #IloveTurin: The whimsical sculptures by artist & gardener Rodolfo Marasciuolo (@maradolfone on IG) in the Parco del Valentino. #Torino #Turin #Italia #Italy #sculpture
Sculpture by Rodolfo Marasciuolo.Sculpture by Rodolfo Marasciuolo.Sculpture by Rodolfo Marasciuolo.Sculpture by Rodolfo Marasciuolo.
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Matteo Ruggiu, PhD @rnadoctor.bsky.social · 01/06/2026
This is why #IloveTurin: old TIM public phones. No longer functional, they are now an urban sculpture. I am old enough to remember the SIP public phones that used a special token called "gettone". #Turin #Torino #Italy #Italia #publicphone
Old TIM public phone.Old TIM public phone.
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