Rare Diseases - Recent Trends
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A rare disease, as the name suggests, is a disease that occurs in a very small percentage of the general population. Different countries have defined those percentages for their own populations. For example, for a disease to qualify as a rare disease, the proportion of people suffering from the disease has to be 1 in 1,500 citizens for US, 1 in 2,500 in Japan, and 1 in 2,000 in EU.
The data with many countries in Europe and US is not adequate to locate every patient or to document each of those diseases in great details. This, in turn, makes it further difficult to register accessible patients with rare diseases.
Some of these diseases are so rare that the patients and their families get alienated from the society.
Nevertheless, considering the US population of 308 Million in 2010, with a prevalence of 1 in 1,500, many rare diseases are not so uncommon. With close to 100k patients for each disease, the overall number of patients in the whole population suffering from such diseases is significant.
There are around 5000-7000 rare diseases known today - spanning physical, mental and behavioral disorders. Most of the rare diseases are genetic in nature and are inherited or derived from genetic abnormalities. Other causes of rare diseases include infections, allergies and environmental factors.
Though almost 50% of the rare diseases start showing symptoms early in the childhood, some common symptoms also tend to hide the underlying disease, delaying the diagnosis, further worsening the medical condition of the patients. Many rare diseases are also preventable if diagnosed early and do not need complex treatments.
Scientists expect that many more rare diseases may be cured; but, due to the rarity of such diseases, isolation of patients, and lack of public awareness, companies do not spend their R&D efforts on rare diseases.
A positive trend has been lately seen. Many organizations and public forums have started campaigns to increase the public awareness and to influence lawmakers to introduce public policies to provide medical, physical and psychological support to patients with rare diseases and to spearhead the efforts to find cures to those diseases.
This trend should not merely focus on stimulating rare disorder research in general but should also focus on the specific needs at disease class level, in close interaction with patient organizations and learned societies. In this respect, the disease class of oncological diseases can serve as a valuable role model for other disease classes.
Some very useful resources on Rare Diseases: