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Aurora magazine

Rare genetic diseases are becoming a priority

An analysis published in the European Journal of Human Genetics proves that rare, even genetic, diseases are increasingly a priority. At least from the point of view of public health. Indeed, data collected by Orphanet estimates that between 3.5% and 5.9% of people suffer from rare diseases.

The data exclude tumors, viruses, bacteria and poisoning. Furthermore, they take into account only 67.6% of known rare diseases; this means that the data is at fault. Rare, genetic and non-genetic diseases are heterogeneous and distributed throughout the world. For many of these there is no cure and, in some cases, not even a real therapy.

They are largely chronic and often lead to death. Why? Because the researchers have very little epidemiological data on which to base the studies, which are therefore scarce. Not to mention that a lot of information comes from non-standardized sources, which makes it even more difficult to act efficiently and effectively.

The Orphanet database helps as much as possible. To date it contains more than 6,000 identified and classified rare diseases. About 71.9% of these are composed of rare genetic diseases, of which 69.9% occur at birth or in the earliest years. Despite the precociousness of symptoms, many families struggle to find a name for these diseases, which often remain without a diagnosis for years.

The prevalence of rare diseases is unbalanced: 149 pathologies affect about 80% of total patients, with 1-5 cases per 10,000 people. However, there are 241 pathologies that have a prevalence of 0.1-1 people per 10,000, with a percentage close to zero. These 400 diseases comprise 98% of total rare patients. All the others have a prevalence that is around 1 case per 1 million people. The study aims to bring out the many sick people who are still invisible today, who also represent a significant part of society.