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Due to the existence of a large number of rare diseases (ranging from 6,000 to 8,000 according to various sources), it is common for many of them to exhibit similar symptomatology. This circumstance

Research in rare diseases faces significant challenges due to the limited number of patients and geographical and linguistic barriers. In light of this, Share4Rare has made it a priority to foster the

When there is suspicion of a genetic disease caused by a mutation in a specific gene, the physician will request a diagnostic test that involves analysing that particular gene in a molecular genetics

As explained in an article published in the New England Journal of Medicine, the research group delved into an extensive analysis of the genomes of over 13,500 families from the United Kingdom and

Paediatric cancer, also known as developmental cancer, encompasses a group of rare diseases with low prevalence. Recognising the need for specialised care, the Sant Joan de Déu Barcelona Children's

Mutations refer to changes in our genes or chromosomes. They are relatively common, and in fact, all of us carry genetic mutations. The impact of a mutation can vary, ranging from beneficial to

One of the main challenges when researching rare diseases is there is not enough available information about how the condition affects patients. This is mainly because there are not enough patients

To investigate rare diseases, it is essential to create models that faithfully reproduce all their characteristics. These models can be animal (mice, fish, flies, etc.), computational (what we

Branched-chain ketoacid dehydrogenase kinase deficiency, or BCKDK deficiency, is caused by a mutation in this enzyme. This mutation results in a lower production of biomolecules known as branched

In some countries, treatments for rare diseases are not available for the general population, so families often choose to emigrate to have access to adequate therapies. Unfortunately, there is very

Chorionic villi are part of the placenta. This tissue is found in an area of the placenta that is in contact with maternal blood, which makes it essential during pregnancy. If we want to perform

Richard Rui Yang is a Hong Kong-based researcher affected by Bietti crystalline dystrophy (BCD) , a rare retinal degeneration disease characterised by small sparkling crystalline deposits in the