investigación en enfermedades raras

Rare Disease Diagnosis and Research: Let’s Make Progress


According to the World Health Organization (WHO), a rare disease is one that occurs infrequently or rarely,and affectsa very small number of people worldwide. In the EU, diseases with a prevalence offewer than 5 in 10,000 peopleare considered rare. To date, about 7,000 rare diseaseshave been described and around 5 new rare diseases are describedin the medical literature each week, thanks largely to advances in DNA sequencing methods(next-generation DNA sequencing or NGS).

Thus, rare diseases affect 1 in 17 people or between 6% and 8% of the world’s population. This means that the total number of people affected by rare diseasesin Spain is about 3 million, about 30 million in Europe, and about 400 million worldwide.

Rare diseases are chronic, severe conditions with few treatment options and symptoms may manifest early, at birth or during childhood, or late in adulthood.

80% of rare diseases are genetic and can be roughly classified as follows:

  1. Monogenetic disorders: caused by a mutation in a single gene.
  2. Chromosome disorders: resulting from alterations in the number or structure of chromosomes.
  3. Multifactorial diseases: caused by multiple genetic and environmental factors. Infectious, autoimmune, and proliferative diseases account for 20% of the remaining cases.

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Genetics is a key factor

It seems clear that genetics is key to understanding the fundamental aspects of thecause of disease in clinical practice; it is anessential factor in the process of genetic counselling for patients and relatives affected by any genetic disease, as well as in research into the genetic basis and molecular and cellular mechanisms for the search of new molecular targets for developing new therapies.

However, Spain is the only country in the European Union that does not recognize clinical geneticsas a medicalspecialty , although professionals and researchers working in this field have been, for over 30 years, calling for more recognition for the work they do, they have obviously been unsuccessful.

“Dear politicians, step on the gas!”

When it comes to research, Spain is ranked 22nd in the Organization for Economic Co-operation and Development (OECD) for public support for science, technology and innovationin terms of GDP. We nonetheless have important research groups of national and international prestige that aim to develop high-quality research on rare diseases and foster the translation of researchoutcomes into clinical practice.Thank you!

Despite not having specialists in clinical genetics and little fundingfor research, in 2009 the Ministry of Health, Social Services and Equality launched the Rare Diseases Strategy of the Spanish National Health System with 7 lines of action, including epidemiological, clinical, basic and translational research on rare diseases, as well as to maintain and improve the structures and tools needed for the development of research on rare diseases.

We appear to be on the right track, albeit slowly.For this reason, today, Rare Disease Day 2019, it is imperative that we move forward:dear politicians, step on the gas!

Elena Domínguez-Garrido

Bióloga, doctora en Bioquímica, Biología Molecular y Celular. Máster en Genética Médica. Acreditada en Genética Clínica por el EuropeanBoard of Medical Genetics.
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