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According to the most commonly used definition, a disease is defined as rare when its prevalence, that is, the number of cases present at a given time in a given population, does not exceed a certain threshold [19659002]. Community action on rare diseases 1999-2003) this threshold is set at 0.05% of the population, ie 1 case per 2 000 inhabitants and Italy adheres to this definition
Currently their number is estimated by Organization World Health Around 6,000 Of course, this estimate also depends on the accuracy of the definition of the disease
Rare diseases may already occur from birth or childhood as in the case of infantile spinal muscular atrophy of neurofibromatosis of osteogenesis imperfecta of chondrodysplasias or Rett syndrome or as it occurs in more than 50% of rare diseases appearing in adulthood such as Huntington or amyotrophic lateral sclerosis.
These are chronic forms, often degenerative, disabling and conditioning on the psychological and social level. They are also very complex phenomena, not only because of the number and diversity of its forms, but also because of the great variability of symptoms and signs.
Low prevalence does not mean that people with rare diseases are rare. There is talk of a phenomenon that affects millions of people in Italy and even tens of millions across Europe.
In Europe, it is estimated that people affected by these diseases are about 20-30 million. In Italy, there are about 2 million patients, many of whom are of pediatric age
; it is precisely for this reason that it is important that research continues to find them, to develop an appropriate therapeutic plan and to save as many lives as possible.
30% of these diseases are still without diagnosis. Many are already manifesting themselves at the pediatric age, have a genetic origin and affect several devices. Their journey is often disabling and requires ongoing medical treatment, rehabilitation programs and good psychological support.
And Italy is back on the front line: only Bambino Hospital Gesù has been identified, running 2017, 16 new rare diseases, first orphan diagnosis.
A result achieved thanks to the expertise of genomic and bioinformatic platforms developed in hospital laboratories. A commitment that has provided diagnostic answers to more than 50% of rare or ultra-rare patients followed.
There are 13,203 "rare" patients enrolled by the Jesus Child in the Regional Rare Diseases Network, the case considered the highest national level, not just in the field of pediatrics. More than 700 children involved in research, including about 400 researchers and 300 doctors, biologists and pharmacists involved in clinical activity and in scientific research.
With participation in 15 European Reference Networks (ERN), Bambino Gesù is the European pediatric hospital most involved in European networks for sharing knowledge about rare diseases and coordinating care of these diseases. patients
According to a note published by the same hospital, 438 research projects are active in the last year, 36% of these diseases involved rare diseases and cancers. 293 formalized scientific collaborations with national and especially international partners (77%), notably Germany, the United Kingdom, the Netherlands, France and the United States. 431 clinical trials, involving 6,120 patients
The value of the entire biomedical technology park of the hospital is 73 million euros, for a total of 11,400 devices and components.
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