Asier Iturrate

A huge thank you to all collaborators for making this work possible! 🙌

Clinical evaluation of these new patients revealed novel features linked to SCNM1 deficiency, suggesting a more complex phenotype. We also performed functional studies to confirm the pathogenicity of a missense variant, p.(His68Arg), identified in one of the patients.

I’m very excited to share that our latest article “Expanding the phenotype associated with biallelic SCNM1 variants” is now online in Human Genomics! 🎉@HumanGenomics @IIBmCSICUAM @CSIC @CIBER_ISCIII doi.org/10.1186/s40246…

📢 El portal @madrimasd se ha hecho eco de la publicación realizada por @Asieritu del #IIBmCSICUAM 👏 🧠💡 Nos satisface comprobar cómo este trabajo continúa despertando atención y aportando valor en el ámbito de la investigación biomédica. 👇

Just published in @ejhg_journal: 🧬CACNB1 N-terminal variants cause a novel congenital muscular disorder. Long-read transcriptomics in human myotubes provides detailed profiling of CACNB1 muscle isoforms. Full paper: #Sec8" target="_blank" rel="nofollow noopener">nature.com/articles/s4143…

@Raras_CSIC @CSIC @IIBmCSICUAM Many thanks!! 😊😊

👏Congrats Asier and the Genetics and Pathophysiological Mechanisms of Congenital Anomalies group! @csic @IIBmCSICUAM

@plopezlarrubia Thanks Pilar!! 😊😊

Congratulations Asier 👏👏👏 And to the group!

🌟 TODAY in the News from #IIBM 🔬A groundbreaking discovery by @Asieritu: the CACNB1 gene identified as a new cause of congenital myopathy. 🚀We move forward in the fight against rare diseases with a finding that can change lives. 👉 Check it out: iib.uam.es/short?i=EMAY4D

💡 HOY en las Noticias del #IIBM ✨Asier Iturrate y el grupo de Víctor Ruíz identifican que mutaciones en el gen CACNB1 causan una enfermedad muscular hereditaria. Un avance que abre la puerta a nuevos diagnósticos en enfermedades raras. 👉 Echa un ojo: iib.uam.es/short?i=EMAY4D

We hope that this work will benefit other patients with a similar condition who do not yet have a genetic diagnosis. We are very grateful to the patients participating in the study, as well as to our collaborators.

Our work included clinical evaluation and genetic analysis of three affected individuals from two unrelated families, as well as functional studies carried out on a human myoblast cell line (long-read RNA sequencing, CRISPR-Cas9 base editing, etc.).

I am delighted to share that our article "N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder" is now online in the European Journal of Human Genetics!! @ejhg_journal doi.org/10.1038/s41431… @IIBmCSICUAM @CIBER_ISCIII @Raras_CSIC

@SEMOC_IIBM Hay que amenizar tantas horas de confocal!! 😂

📢 Vamos a crear un rincón gourmet en el #SEMOC Está semana @Asieritu nos ha traído #pastelvasco 🥮 y palmeritas de #Zarautz! #gastro🔬 #inmunosgourmet #we♥️semocsusers

🔬otra imagen más a cual mejor! "Dog days are over" Autor: Darío Cilleros-Lab M.Lasa @darii_cillrod7 #ConcursoSEMOC #Microscopía @IIBmCSICUAM

We're having a great time at the #ISDS2024 conference! You can find really interesting clinical and molecular data about Ellis-van Creveld syndrome and Weyers acrofacial dysostosis on poster C-0085 (🙄) ⁦@IIBmCSICUAM⁩ ⁦⁦@CIBERER⁩

📢 Hoy es el Día Mundial de la Osteogénesis Imperfecta #DiaMundialOI 🟡 El grupo de Genética y Mecanismos Fisiopatológicos de Anomalías Congénitas del #IIBMCSICUAM estudian la OI desde 2010 🎯 Mejorar el diagnóstico de esta patología Es una enfermedad rara. Para saber más 👇👇

El lunes 26 de febrero se celebra la I Jornada sobre Enfermedades Raras en el @IIBmCSICUAM. Descubre el programa aquí ➡️ ciberisciii.es/agenda/i-jorna… #DíaDeLasEnfermedadesRaras