Variants deep in introns can be pathogenic:
link.springer.com/article/10.100…

Congratulations Dr. Lisa Korn! YaleMedPSTP Alumni

TONIGHT join me, Frank Glover, Ayaka Sugiura, D.D. Rupert, PhD (PGY0!), and Jose Alex Rodrigues, DO, PhD to hear about applying to PSTP and research track residencies! #ERAS #Match2025 Inside The Match #doubledocs APSA AAMC #medicalstudent

This is so cool - a remarkably frequent mutation in a non-protein-coding RNA gene, which causes around one in every 200 currently undiagnosed cases of developmental delay around the world (including 8 Australian families so far!). A couple of thoughts (1/3)

Today, as many of us gaze upwards, mesmerized by the stunning solar eclipse, it's a wonderful opportunity to also celebrate a hidden marvel closer to home: the human liver. This extraordinary organ, quietly working miracles inside us, deserves just as much awe and admiration as…

91.7% eclipsed, 100% fun with the lab!

Vilarinho Lab 2024 Solar Eclipse

If you are a trainee attending the 2024 AAP/ASCI/APSA joint meeting and interested in pursuing Physician-Scientist Training in Internal Medicine, come by YaleMedPSTP table at the Luncheon today @ 12pm! Looking forward to meet you!

Congratulations Carey Jansen, PhD ! 🎉 YaleMedPSTP

Thank you, Naftali Kaminski for this fantastic thread. Yale Traditional Medicine Residency Program and YaleMedPSTP residents take note! Yale Internal Medicine Silvia Vilarinho

Congratulations, Evangelos K Oikonomou! Yale Cardiology YaleMedPSTP Yale Traditional Medicine Residency Program Yale Internal Medicine Silvia Vilarinho Edward Miller, MD PhD Rohan Khera

Yale Digestive Diseases Yasuko Iwakiri This was a real privilege. Meeting ⭐️Catherine Mezzacappa, MD MPH, learning about PKM2 and digoxin from Bubu Banini, MD PhD, talking platelets with Matthew McConnell, and seeing a liver center filled with great work and ideas.

Thank you so much for the hospitality Yasuko Iwakiri

The first clinical trial using a mRNA-nanoparticle to deliver a protein replacement, which gets into liver cells and restores mitochondrial function. For a life-threatening, ultra-rare disease that has no treatment.
New nature, with results in 16 patients
nature.com/articles/s4158…

Congratulations, Silvia Vilarinho! Excellent review of 🧬 in liver disease.

Dear #livertweet the Baveno Cooperation - an EASL Consortium has
now a website, take a look!
bavenocoop.net

Guadalupe GarciaTsao Thomas Reiberger cristina jaumebosch
The Baveno Cooperation: an EASL Consortium Susana Rodrigues Maja Thiele Mattias Mandorfer EASLnews my_UEG

Being an Gastroenterology editorial fellow has truly been a highlight of this year for me - I highly recommend applying to anyone interested in research!

Silvia Vilarinho Very useful review! Congratulations!

Using genetics to enhance patient care - an overview for busy hepatologists 👇

Grateful to Silvia Vilarinho and co authors Konkwo and Chowdhury for this great paper in Hepatology Communications

journals.lww.com/hepcomm/fullte…

Don't miss Dr. Stephen Harrison 's session on the latest treatments for SLD, including a recently-released drug that is showing great promise. Register today to attend 'Advances in Hepatobiliary Diseases'. Register online at miami.cloud-cme.com/course/courseo…