What an amazing year it has been. We want to share our best wishes with all of our scientific community here. May this 2026 bring the best to all!!! 💫💫💫💫

Enjoy the videos and music that you love, upload original content and share it all with friends, family and the world on YouTube.

En el Dia de la Fenilcetonúria, una malaltia metabòlica causada per la falta d'un enzim necessari per a la síntesi de l'aminoàcid tirosina, recuperem el grup

➡️Malalties metabòliques hereditàries i malalties musculars⬅️
@mitometlab.bsky.social 

👉https://f.mtr.cool/euvipqrkco

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

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

📻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 

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

📻 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

Enjoy the videos and music that you love, upload original content and share it all with friends, family and the world on YouTube.

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

🔬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🧵

As you can see, RD demand our effort for precise diagnosis and targeted therapies. Awareness is crucial for empathy and support.

Toghether, we can make a difference!

#RareDiseaseDay2025

It's cause remains unknown and there are no effective treatments to avoid progression (yet 😉).

We are working to develop in vitro models of the disease and studying its physiopathology.

Even though there are 4 main types, we are curently focusing into Inclusion Body Myositis (IBM) an idiopathic disease in which T cells invade the muscle environment provoking inflammation and muscle degeneration.

2. Muscular Diseases, and specifically, Inflammatory Myopathies, are a group of diseases that involve chronic muscle inflammation, weakness and pain.

These RD are associated with aging and autoimmune disorders.

and even with the clinical manifestations. It's described as a neuromuscular disease with ocular and hearing problems.

We are developing models and potential therapies to manage these symptoms.

We are currently studying one of the rarest amongst RD:
Kearns-Sayre Syndrom (KSS)

It is caused by big mitoDNA heteroplasmic deletions that coexist with healthy mitochondria -even in the same cell-. The proportion of unhealthy mitochondria correlates with the severity

On their side, MD are a group of disorders that affect mitochondria impairing energy production.

It can affect mitoDNA, electron chain, ATP production,... That is the main reason why this group of diseases is that heterogeneous, symptoms vary a lot between diseases.

Phenylketonuria (PKU) is one of the most frequent IMD and it's diagnosed in newborns.

PKU patients suffer from phenylalanine accumulation as the enzyme needed to metabolize it doesn't work properly. Diets and specific drugs can help these babies to grow healthy and strong! 💪

1. Inherited Metabolic Disorders (IMD) are a group of diseases that usually have an early onset.

There are more than 1800 IMD each of which affects different metabolic processes. Over 430 of them are Mitochondrial Diseases (MD)

In the Inherited Metabolic Disorders and Muscular Diseases Research Group, we study 2 main types of #RareDiseases:

1. Inherited Metabolic Disorders 🧬👶
2. Muscular Diseases 💪🧑‍🦽

Let's see them!!!

The chronic-progressive nature often deprives patients of autonomy, impacting their quality of life. Limited effective treatments intensify pain and suffering.

Research in this field is esential to unravel the complexity of RD by studying their clinical manifestations.

Around 5% of the world population (300 M people) live with a diagnosed RD.

Over 6000 RD are characterised by a broad diversity of disorders and symptoms that vary, not only from diasease to disease but also from patient to patient suffering the same disease.

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

🧬📣 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...

@hospitalclinic.bsky.social @idibaps.bsky.social @ub.edu @ciberisciii.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/

Programa XIV edición de la Jornada CIBERER "Investigar es Avanzar"

🙌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

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.

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
🧪

🤩 This Thursday!!!

@idibaps.bsky.social @hospitalclinic.bsky.social @ciberisciii.bsky.social @ub.edu

Enfermedades mitocondriales | La Ciencia de lo Singular La Ciencia de lo Singular · Episode

📻 ¿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...

🔊 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