Chemistry and Solidarity: Advancing Research into Rare Diseases

The International Rare Disease Day, observed every 29th of February, is a significant occasion to raise awareness about diseases that affect a small proportion of the population yet pose substantial medical, social, and emotional challenges. In Europe, a disease is considered rare when it affects 1 in every 2,000 people. Often, these conditions are chronic, debilitating, and in many instances, carry a high degree of disability or can even be life-threatening. There are over 7,000 rare diseasesand only 5% have approved treatment options. Some of these diseases are of genetic origin, but there are also rare autoimmune and infectious diseases. 50% of individuals with rare diseases are children.

What makes rare diseases particularly challenging to manage is their relative scarcity in terms of individual cases, which can hinder accurate diagnosis and the development of effective treatments.

The impact of rare diseases on the population is significant. While each disease may affect only a few people individually, together, these diseases impact millions of people worldwide. Furthermore, those living with rare diseases face unique challenges ranging from the lack of access to specialised medical care to discrimination and social isolation.

Fortunately, in recent years, there has been growing recognition of the importance of addressing rare diseases, both medically and socially. The pharmaceutical industry, in particular, has been making significant efforts to invest in research and development of new drugs and therapies to treat these diseases, sometimes collaborating with academic and governmental organisations to advance in this field.

Rare diseases pose a significant challenge to public health and society at large. However, with a greater focus on research and treatment development, as well as awareness and support for affected individuals, we can work together to improve the quality of life for those living with these diseases and move towards a future where rarity does not equate to exclusion or a lack of care or treatment.

In our catalogue, you can find TRCproducts focused on research in this area.