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.

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