📻 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

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

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.

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

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! 💪

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...

🧬📄🤩 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/

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

🔊 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

🗓️ 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…

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.

🙋 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!!!