More than 300 million people suffer from rare diseases

Systemic sclerosis, polycythemia or Marfan syndrome (MFS) are some of the diseases.

More than 300 million people all over the world suffer from diseases that are considered to be rare, according to a study published in the European Journal of Human Genetics.

Systemic sclerosis, polycythemia or Marfan syndrome (MFS) are some of the diseases that remain unknown to most people, but when taken together “represent a large proportion of the population,” said study coordinator Ana Rath, director of the Inserm platform US14, which has been running the Orphanet database since 1997, which gathers data on these diseases collected by a consortium of 40 countries.

Of the more than 6,000 diseases described in the database, 149 are predominant and responsible for 80% of rare disease cases worldwide. It is also noted that 72% are of the genetic origin and 70% begin to manifest in childhood.

The researchers, who examined data on the prevalence of 3,585 different diseases, estimate that an estimate between 3.5% and 5.9% of the population suffers from these diseases.

According to the current definition in Europe, a disease is considered to be rare when it affects less than 5 out of 10,000 people, but there are few scientific studies available and medical knowledge about the treatments is lacking, which implicates the suffering for thousands of diseased and their families.

“Since little is known about rare diseases, we may think that the sick are few. Although rare diseases are individual and specific, they have in common the fact that they are rare, and as a result – the consequences they bring,” said Rath.

In their research, the team led by Ana Rath ruled out rare cancers or diseases caused by infections or poisoning.