Why rare diseases?

Why Studying Rare Diseases Is So Important: Do You Know of This Disease?

Some diseases affect many people and are of course very bad. Some other diseases affect just a few people and are called rare diseases. This sounds like a good thing but... if you are one of the few people affected by a rare disease, this is not a good thing! It is actually very bad because, often, pharmaceutical companies are not interested in developing a treatment for you because too few peo...

Why do humans need two types of transferrin receptor? Lessons from a rare genetic disorder.

Ovarian cancer in children and adolescents: A rare disease that needs more attention.

Ovarian cancer is rare in childhood. This explains why there are only scattered reports on it in the literature and why there is a lack of specific pediatric treatment. This paper gives an overview of the Belgian data from 2004 to 2013 and reviews the literature. To index ovarian masses and malignancies in children better in the future, worldwide data collection should be improved and reproduci...

Why we should care about ultra-rare disease.

To date, more than 7000 rare diseases have been identified which affect 30–40 million patients in the European Union (EU), and some 250 new rare diseases are described every year [1, 2]. Primary or secondary lung involvement occurs in ∼5% of rare diseases; therefore, approximately 1–2 million people in the EU are likely to be affected by rare pulmonary diseases [3]. This means that if individua...

A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome

Nucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches: Global-Genome Repair and Transcription-Coupled Repair, respectively. Nevertheless, both afflictions sporadically occur together, giving rise to X...