Rare diseases: high specialization and scientific research

Rare diseases: high specialization and scientific research

Publication date: 22-03-2021

Updated on: 22-06-2022

Topic: Research

Estimated reading time: 1 min

What are rare diseases? What is their impact in Italy and in the world? We’ve discussed it with experts of San Raffaele Hospital, a reference center for treatment and research on rare diseases

Rare Disease Day is celebrated annually across the globe (XIV edition was celebrated on February 28, 2021). The event provides an opportunity for doctors, researchers, patients and associations to come together to raise public awareness of “rare patients” and to promote concrete actions to improve their quality of life.

Social and health care assistance, scientific research are essential and inseparable tools in the battle against these pathologies. Number of cases in Europe for each of these diseases does not exceed 0.05% of the population, equal to 1 per 2,000 inhabitants.

Their rarity, however, can be misleading. Considered all together, rare diseases affect tens of millions of people every year. Millions of people who often have to wait years to receive a correct diagnosis and for whom, in most cases, specific treatments are not available.

San Raffaele Hospital has been committed to this front for years, in the belief that patients with rare diseases should not be neglected by scientific research and by the progress in treatment. San Raffaele Hospital is part of the regional, national and European principals for rare diseases, offering assistance for over 180 of these pathologies (complete list you can find here) and carrying out a pioneering research activity in the field.

Numbers and impact of rare diseases

Today there are about 6,000 known and diagnosed rare diseases. About 72% of these are of genetic origin and generally transmitted by inheritance, that is, as a result of DNA alterations.

The rest has a multifactorial basis: alongside any genetic factors, environmental causes also contribute to the onset of the disease.

In addition to being numerous, rare diseases are quite heterogeneous: they can affect any organ and occur at any age even if in most cases (70%) they occur in the first years of life. This means that every year around 3-4% of children born in Europe are affected by a rare disease.

Therefore, the numbers of those suffering from rare diseases is by no means low. It is estimated that around 1 million are affected in Italy, 30 million in Europe and 300 million worldwide.

“Unfortunately, medical-scientific knowledge is still in developing and scarce investments in the research translate into delays and failures in diagnosis. Which is a further reason of underestimation of the real numbers of the phenomenon.

This is why it is important that patients are treated in specialized centers: trained staff, greater medical knowledge and the possibility to access advanced therapies are fundamental aspects if we want to give a tangible hope to these patients,” comments Dr. Gianni Russo, pediatrician at the Pediatric Unit and referent for rare diseases at the San Raffaele Hospital.

San Raffaele: treatment and research on rare diseases

San Raffaele Hospital has always been involved in treatment and research on rare diseases, each month welcoming about 600 patients, including children. Among the pathologies treated there are:

  • rare diseases with very low number of cases and less common ones, for example tuberous sclerosis (1 in 10,000) or Prader-Willi syndrome (about 1 in 25,000);
  • rare diseases with higher number of cases, for example muscular dystrophy or pubertal alterations.

“Commitment of doctors and researchers of the San Raffaele, has proved to be stable and constant even in this difficult year. In 2020, the San Raffaele Hospital applied to obtain a recognition as a regional reference center for other 6 rare diseases:

  • multiple system atrophy,
  • cystinuria,
  • histiocytosis,
  • Von Hippel-Lindau syndrome,
  • Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome,
  • eosinophilic gastroenteritis.

Moreover, to facilitate the access to medical care and to help them through the treatment process, San Raffaele Hospital is activating a unique dedicated pathway for patients with rare diseases,” explains Dr. Stefano Previtali, Director of the Research Unit for Neuromuscular Repair.

Research on rare diseases

Doing research on rare diseases not only allows to increase the quality of life of those affected by them but produces a value for the whole society. It allows to develop innovative knowledge and technologies which are then translated into other fields. A notable example is gene therapy in which San Raffaele is a world leader, thanks to the work of the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) and to the partnership with the Telethon Foundation.

Research at the San Raffaele does not stop at the pioneering work of SR-Tiget. There are dozens of other laboratories engaged in the study of rare diseases, often supported by the Telethon Foundation.

European networks in support of patients with rare diseases

To support patients affected by rare diseases in Europe, European Reference Networks (ERNs) have been created. They identify accredited centers and specialists for the subgroups of these diseases.

San Raffaele Hospital has been a member of 3 ERNs networks since 2017:

  • “Endo-ERN” for endocrine pathologies,
  • “ERN EURACAN” for solid tumors in adults,
  • “ERN RITA” for immunodeficiencies, inflammatory and autoimmune pathologies.

In 2019 the San Raffaele Hospital applied for 3 other networks (ERN EURO-NMD, ERN EuroBloodNet, ERN ReCONNET) for which is awaiting for the outcome.

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