Rare Diseases

What are rare diseases?

They are chronic diseases, usually of genetic origin.
They affect one in two thousand individuals

The European Organization for Rare Diseases (EURODIS) estimates that there are between 6,000 and 8,000 types of rare diseases.

These affect about 7% of the European population.

In addition, it does not affect all countries in the same way, different diseases prevailing in specific locations, due to their genetic nature.

Rare diseases are of great importance in medical and pharmaceutical research

It is estimated that 80% of rare diseases are of genetic origin, less frequently they are infectious or immunological.

In addition, it is identified that more than 25% of them are chronic.

From a medical point of view, there are a large number of conditions and symptoms, even when dealing with the same disease.

Normally they tend to affect their physical and mental abilities, as well as affect them emotionally, both patients and family members.

On the other hand, unfortunately, due to the lack of resources and initiatives, there are more than 400 rare diseases that have no treatment.

What is the severity of these rare diseases?

Obviously, not all rare diseases are serious, but many of them are; in fact, serious and debilitating conditions occur in 65%.

More than half present motor, sensory or intellectual weakness.

Chronic pain is recognized in 20% of diagnosed diseases and 30% of them die before their 5th birthday.

The low individual prevalence of rare diseases determines less knowledge of them by the medical team, which leads to later and less specific diagnoses.

How does it affect patients?

Ignorance, bewilderment and rejection are the most frequent reactions

Having a rare disease, in addition to the specific circumstances of each pathology, implies other problems for those affected:

  • Lack of knowledge about the origin of the disease.
  • Bewilderment and disorientation at the time of diagnosis.
  • Social rejection and loss of self-esteem.
  • Isolation and lack of contact with other affected people.
  • Misinformation about care and possible complications.
  • Misinformation about specialists or reference medical centers.
  • Lack of study and follow-up protocols; lack of financial aid.
  • Lack of recognition in health policies and systems
  • Lack of specific drugs to treat the disease.
  • Lack of legal coverage to promote research on genetics, clinical trials and new treatments.


Management and genetic counseling

The vast majority of times it is based on a molecular study, either of the specific gene associated with the disease in question.

Panels can also be applied that include the different genes that may eventually be responsible for a certain phenotype and that make it possible to accurately identify the underlying molecular alteration.

As they are very heterogeneous pathologies, they are related to different medical specialties.

These diseases are considered to be related to multiple genes and multiple mutations responsible for the condition, and also to other mutations and polymorphisms that regulate their expression.

Technological advances in molecular biology allow the availability of molecular studies to achieve precision diagnoses in different human pathologies to increase day by day.

    Genetic counseling

    Communication between specialists, patients and families

    It is about offering information and accompaniment to the patient and his family.

    Tell you that they have a genetic disease or are at risk of having it, as well as information regarding the condition.

    The main objective is to reduce the risk and decide the existing alternatives.

    We know that it is a complex process that involves a large number of variables that compromise the affected individual, their family, and the condition itself.

    Since about 80% of rare diseases are genetic in origin, genetic counseling is important for the family.

    In addition, accurate diagnosis is essential, since knowing the molecular alteration responsible for the condition will make it possible to identify other individuals at risk of presenting the disease in each of the families of the affected patients.

    Patient associations

    Patient and family associations have been acquiring a fundamental role in the confrontation of the community with the health authorities.
    This is especially evident in the case of rare diseases.
    The low prevalence forces them to join forces and empower themselves to face the different challenges associated with living with any of these conditions.
    Patient associations are necessary to provide them with accurate information, because their conditions are chronic, difficult to manage.
    They are so rare that coordinated efforts to effect change and to be heard and considered by researchers, the medical community, and health policy makers are imperative.
    Patient organizations have roles at different levels, from research financing to regulatory aspects of drug marketing, including the production of reliable educational material, the design of public policies and the study of projects.


      • Implement a comprehensive confrontation.
      • Develop appropriate public health policies.
      • Increase international cooperation in scientific research.
      • Increase and share scientific knowledge of all rare diseases, not just the most “frequent” ones.
      • Develop new diagnostic and therapeutic procedures.
      • Raise public awareness
      • Facilitate networking of patient groups so that they can share their experiences.
      • Support the most isolated patients and their families to create new groups or communities of patients.
      • Deliver complete and quality information to the entire community of patients with rare diseases.

      Resource: Elsevier

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