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mitometlab.bsky.social
MitoMetLab
@mitometlab.bsky.social
22 followers 20 following 25 posts
Inherited Metabolic Diseases and Muscular Diseases Research Group

📍IDIBAPS - Hospital Clínic - Universitat de Barcelona
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mitometlab.bsky.social
MitoMetLab @mitometlab.bsky.social · Feb 24
🧬📄🤩 We recently published our latest IBM model using induced Pluripotent Stem Cells (iPSC).

By reprogramming IBM patients fibroblasts we were able to differentiate these iPSC into myotubes, that have been validated as they reproduce some hallmarks of the disease.

pubmed.ncbi.nlm.nih.gov/39985015/
Reposted by MitoMetLab
hospitalclinic.bsky.social
Avui és el Dia Mundial de les #MalaltiesMinoritàries‼️

Moltes no tenen encara tractaments efectius degut al seu desconeixement. Podem canviar-ho visibilitzant-les i donant-les a conèixer!

A #PortalCLÍNIC trobaràs info sobre #MalaltiesMinoritàries com 👉(🧵)

@FundacionBBVA
February 28, 2025 at 8:02 AM
Reposted by MitoMetLab
idibaps.bsky.social
📻No et perdis el programa Diga-li Ciència @radio4rne.bsky.social en què Glòria Garrabou parla de recerca en malalties minoritàries
@hospitalclinic.bsky.social @mitometlab.bsky.social 

Diga-li ciència - Glòria Garrabou. Investigadora biomèdica (IDIBAPS). Tècniques multiòmiques per conèixer les malalties
Glòria Garrabou. Investigadora biomèdica (IDIBAPS). Tècniques multiòmiques per conèixer les malalties
f.mtr.cool
March 10, 2025 at 1:03 PM
Reposted by MitoMetLab
idibaps.bsky.social
Aquesta setmana a l'IDIBAPS...

Obert el període de votació popular del Concurs de fotografia de l'#IDIBAPS 2025

Les imatges es troben en un àlbum. Les 15 que rebin més ❤️passaran a la fase final

👉https://f.mtr.cool/vdwgcoldqc
March 9, 2025 at 10:01 AM
mitometlab.bsky.social
📻 Encara no heu escoltat el programa d'ahir de Diga-li ciència? Doncs et deixem aquí avall l'enllaç que hem parlat d'òmiques i d'investigació en malalties minoritàries.
www.rtve.es/play/audios/...
@rtvecatalunya.bsky.social @idibaps.bsky.social @hospitalclinic.bsky.social @ub.edu
March 10, 2025 at 8:07 AM
Reposted by MitoMetLab
idibaps.bsky.social
El grup ➡️Malalties metabòliques hereditàries i malalties musculars⬅️ ha identificat nous mecanismes moleculars associats el que ha millorat el diagnòstic d'aquestes malalties minoritàries
@mitometlab.bsky.social  

#DiaMundialMalaltiesMinoritaries

👉https://s.mtrbio.com/pqfaknjcyq

Enjoy the videos and music that you love, upload original content and share it all with friends, family and the world on YouTube.
s.mtrbio.com
February 28, 2025 at 10:02 AM
Reposted by MitoMetLab
csic.es
🔬Asegurar un tratamiento y diagnóstico precisos, así como una posible cura, es el principal anhelo de los pacientes con patologías raras, así como de sus médicos y familia

Con motivo del #DíaMundialDeLasEnfermedadesRaras el día 28, el #CSIC quiere visibilizar la importancia de la investigación🧵
February 26, 2025 at 9:37 AM
mitometlab.bsky.social
Today it's #RareDiseaseDay2025 and we want to help rising awareness about Rare Diseases (RD) and research by sharing our contributions to the #RareDiseasesResearch.

Do you want to learn more?
A thread 🧵

@idibaps.bsky.social @hospitalclinic.bsky.social @ciberisciii.bsky.social
February 28, 2025 at 8:56 AM
mitometlab.bsky.social
🧬📣 Hoy es el Día de las Enfermedades Raras y estamos en Burgos con el CREER donde Glòria, Mariona y Frede nos hablarán sobre los retos que supone estudiar EERR y la importancia de impulsar a los jóvenes investigadores.

Link en vivo: www.youtube.com/live/qDz1LtO...
February 28, 2025 at 8:48 AM
mitometlab.bsky.social
🧬📄🤩 We recently published our latest IBM model using induced Pluripotent Stem Cells (iPSC).

By reprogramming IBM patients fibroblasts we were able to differentiate these iPSC into myotubes, that have been validated as they reproduce some hallmarks of the disease.

pubmed.ncbi.nlm.nih.gov/39985015/
February 24, 2025 at 11:28 AM
Reposted by MitoMetLab
ciberisciii.bsky.social
🙌XIV edición de la Jornada CIBERER "Investigar es Avanzar"

📆Lunes 24 de febrero de 2025
🕓15:30h a 19:30h
📍Salón de Actos CaixaForum Madrid (Paseo del Prado, 36)
💻Aún puedes inscribirte: forms.office.com/e/1C7RRLpVBr

#CIBERER #RareDiseaseDay #investigaresavanzar #DíaMundialdelasEnfermedadesRaras
Programa XIV edición de la Jornada CIBERER "Investigar es Avanzar"
February 19, 2025 at 11:28 AM
Reposted by MitoMetLab
acr-journals.bsky.social
Using a large collection of muscle biopsies, RNA-sequencing data from different myositis subtypes were analyzed to identify uniquely expressed RNA as well as transcriptional similarities among myositis types

In ACROR
loom.ly/lj5pCBI
🧪
An alternative splicing event in the SGCA gene in IBM. (A) A zoomed-in view of the alternative splicing event. The title includes gene name, event ID, chromosome, strand, and adjusted P value (q value). n is the number of reads supporting isoform 1 or 2. Red lines represent the first stop codon per isoform. Light blue exons indicate same protein product, whereas light green indicate altered peptides when translated. (B) PSI of isoform 2 by myositis subgroup and NT. (C) Zoomed-out view of the alternative splicing event with complete exons of the canonical transcript. (D) Exons aligned with protein domains of the gene. (E) A general illustration of the alternative splicing event. IBM, inclusion body myositis; NT, normal tissue; PSI, percent spliced-in.
August 5, 2024 at 5:45 PM
mitometlab.bsky.social
🤩 This Thursday!!!
mitometlab.bsky.social MitoMetLab @mitometlab.bsky.social · Jan 24
🗓️ Save the date! Feb 20th, our KSS researchers will be giving a webinar about our latest works. Join us in this link below!

aepmi.org/2025/01/24/web…
February 18, 2025 at 10:47 AM
mitometlab.bsky.social
📻 ¿Aún no habéis escuchado el cap.21 de La Ciencia de lo Singular en el que nuestra IP Glòria habla de enfermedades mitocondriales junto a la Dra. Mar O'Callaghan de @sjdhospitalbarcelona.org ?

👇👇👇 Pues os dejamos aquí el link de Spotify para que podáis escucharlo

open.spotify.com/episode/21Sd...
Enfermedades mitocondriales | La Ciencia de lo Singular
La Ciencia de lo Singular · Episode
open.spotify.com
February 18, 2025 at 10:42 AM
mitometlab.bsky.social
🔊 We hope all assistents enjoyed and learnt from all the speakers but specially from our IP Glòria who gave a great talk about the PKU Marató TV3 results! 🧪🔬 @hospitalclinic.bsky.social @idibaps.bsky.social @ub.edu
February 12, 2025 at 11:27 AM
Reposted by MitoMetLab
pm-lab.bsky.social
As my first post, I am reposting from Twitter our Phindr3D (slightly rewritten).
#BioimageTooloftheDay. Phindr3D is a comprehensive #ShallowLearning framework for automated quantitative phenotyping of #3D #HighContentScreening images. Still valuable in the age of (un)explainable #deeplearning.😉
November 22, 2024 at 7:50 PM
mitometlab.bsky.social
🗓️ Save the date! Feb 20th, our KSS researchers will be giving a webinar about our latest works. Join us in this link below!

aepmi.org/2025/01/24/web…
January 24, 2025 at 2:58 PM
Reposted by MitoMetLab
monicagarciag.bsky.social
Inspirador escuchar a Noah en nuestra televisión pública, dando voz a 3 millones de españoles con enfermedades raras.

Hemos dado pasos enormes en los últimos años, pero queda mucho por hacer. Nuestro firme compromiso con mejorar la atención, el diagnóstico y el tratamiento.
January 13, 2025 at 10:31 PM
mitometlab.bsky.social
On Saturday Feb 8th we will be talking about the transition of pediatric patients into the adult hospital (HSJdD - HCB) and the research on PKU derived from the Marato de TV3 grant.
January 16, 2025 at 8:18 AM
Reposted by MitoMetLab
idibaps.bsky.social
❤️🎄❄️🔔Ja és Nadal a l'IDIBAPS🔔❄️🎄❤️
December 9, 2024 at 12:04 PM
mitometlab.bsky.social
🙋 We want to start our bluesky experience by sharing with you our Christmas lunch pics 🎄

Let this time of the year bring us all peace, health and good scientific results!!!
December 10, 2024 at 9:55 AM