27 February 2023

On the occasion of #RareDiseasesDay, it is important to remember that the journey facing a person with these conditions today is still challenging in many ways. But before addressing this topic, some clarity is needed.

Rare diseases affect, as their name suggests, a rather limited number of people; however, if we added up all the individuals affected by one of these conditions we would have a number that reaches over 300 million subjects worldwide. According to the Orphanet Italia network (the portal that classifies rare diseases), it is estimated that in our country there are more than two million people living with a rare disease and of these 1 in 5 is under 18 years old.

To this day, between 6,000 and 8,000 rare diseases are known. They are defined as such when they affect no more than 5 out of every 10,000 people and, although they are very different diseases, they often have in common critical issues concerning a delay in diagnosis, the lack of a cure, and a considerable burden of care.

What are the main causes? About 70-80% of rare diseases have a genetic origin that can be distinguished between hereditary factors, i.e. transmitted by the parents, or caused by a ‘de novo’ mutation, i.e. linked to an adverse genetic event occurring during the foetal phase.

However, a rare disease does not have to turn into a condemnation: the news that the National Plan for Rare Diseases has been approved by the National Committee of the same name and that specific measures are planned to support research into these diseases bodes well for the future. ‘Improving access to therapies, overcoming regional inequalities, declining and effectively exploiting networks and the use of data, and fully implementing Law 175/2021 with greater speed’ is the motto recalled by undersecretary Marcello Gemmato regarding what the Ministry of Health’s objectives are on the subject of rare diseases.

What can be done concretely to promote treatment and help with diagnosis for all the families involved? Researchers all over the world use cell lines and nucleic acids (DNA and RNA) as a primary source for basic and clinical research studies. The flourishing of new therapies is a hope for a further expansion of the number of treatable rare diseases. This hope is also supported by meticulous storage, cataloguing and analysis of biological samples.

A biobank can be defined as a facility that deals with the collection, storage and management of biological material (tissue, blood, urine, DNA, etc.) and related clinical data according to common and internationally agreed rules. These regulations and Quality Assurance processes guarantee quality while fully respecting the rights of clinical trial participants.

Samples and related data allow a genetic profile of an individual to be drawn up; the material collected can be used for diagnosis or to better determine prognosis; while the data, once analysed, can be useful for conducting studies on rare diseases at both clinical and pre-clinical levels.

These studies enable ongoing medical and scientific progress, forming the basis for early diagnosis, prevention pathways and new pharmacological treatments.

Don’t miss all the events that will be dedicated to this day online: an opportunity for professionals and for all of us to become increasingly aware of the many aspects of the treatment of rare diseases.

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