Asier Iturrate

PhD student in #HumanGenetics and #RareDiseases at @IIBmCSICUAM

[SEMOC @SEMOC_IIBM]

@B_Cervantes2015 @IIBmCSICUAM @REMOABioimaging @AutophagyLabIIB Siempre es importante la salud dental🦷🔬
"Micro-Molar con caries"
Autor: David García-Lab. V.L.Ruiz @david_gvf
#ConcursoSEMOC @IIBmCSICUAM @REMOABioimaging

[Asier Iturrate @Asieritu]

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

[Asier Iturrate @Asieritu]

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

https://t.co/FkSmfBGp9x

[Asier Iturrate @Asieritu]

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.

[IIBM @IIBmCSICUAM]

📢 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. 👇

[European Society of Human Genetics (ESHG) @eshgsociety]

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:
https://t.co/Ov02bj7xMI

[Asier Iturrate @Asieritu]

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

[Asier Iturrate @Asieritu]

@plopezlarrubia Thanks Pilar!! 😊😊

[IIBM @IIBmCSICUAM]

🌟 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: https://t.co/2BqEka8xln

[IIBM @IIBmCSICUAM]

💡 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: https://t.co/2BqEka8xln

[Asier Iturrate @Asieritu]

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.

[Asier Iturrate @Asieritu]

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

https://t.co/6dk5nLi65p

@IIBmCSICUAM @CIBER_ISCIII @Raras_CSIC

[Asier Iturrate @Asieritu]

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.).

[Asier Iturrate @Asieritu]

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

[SEMOC @SEMOC_IIBM]

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

[Asier Iturrate @Asieritu]

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

[IIBM @IIBmCSICUAM]

📢 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 👇👇

[Julio Rodríguez, PhD | Genética Clínica @bitacorabeagle]

#osteogenesisimperfecta