{"id":26304,"date":"2026-02-21T19:28:25","date_gmt":"2026-02-21T18:28:25","guid":{"rendered":"https:\/\/centroandaluzalfa1.org\/?p=26304"},"modified":"2026-02-21T19:30:24","modified_gmt":"2026-02-21T18:30:24","slug":"rare-diseases-2","status":"publish","type":"post","link":"https:\/\/centroandaluzalfa1.org\/en\/rare-diseases-2\/","title":{"rendered":"Rare Diseases"},"content":{"rendered":"\n

Rare Diseases<\/strong><\/h2>\n\n\n\n

Rare diseases are those that affect a small number of people relative to the general population.<\/p>\n\n\n\n

In fact, it is are defined as those that affect fewer than five people per 10,000 inhabitants.<\/p>\n\n\n\n

In Spain, more than three million people live with a rare disease, many of them without a diagnosis or treatment.<\/p>\n\n\n\n

Furthermore, this condition, although affecting very few people, has a high mortality rate.<\/p>\n\n\n\n

They generally involve a very severe chronic course, with multiple motor, sensory, and cognitive impairments<\/strong>, often presenting a high level of clinical complexity that hinders their diagnosis and recognition.<\/p>\n\n\n\n

World Rare Diseases Day<\/h4>\n\n\n\n

Today, on World Rare Disease Day, patients and experts are calling for equity and more research, as well as faster access to the most innovative therapies.<\/strong><\/p>\n\n\n\n

Living with a rare disease<\/strong><\/h3>\n\n\n\n

Imagine experiencing the following situation:<\/h4>\n\n\n\n

It is not surprising that, for millions of people, living with a rare disease means facing uncertainty<\/strong> every day; sometimes for years; other times for decades, until the true diagnosis is known.<\/p>\n\n\n\n

And, in the worst-case scenario, that diagnosis never comes.<\/p>\n\n\n\n

\n
\n

The impact of rare diseases on public health<\/strong><\/h3>\n\n\n\n

Diagnosis and treatment<\/h4>\n\n\n\n

Although each of these diseases is rare individually, together they have a significant impact on public health and require personalized care strategies.<\/p>\n<\/div>\n\n\n\n

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\"\"<\/figure>\n<\/div>\n<\/div>\n\n\n\n

<\/p>\n\n\n\n

<\/div><\/span>
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Challenges in medicine<\/h3>\n\n\n\n
\n
\n

Complexity in diagnosis, treatment, and research<\/p>\n<\/div>\n\n\n\n

<\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n

 <\/p>\n\n\n\n

The genetic, phenotypic, and environmental characteristics that define these conditions are not always well established across different populations, hindering the standardization of diagnoses and therapeutic approaches.<\/p>\n\n\n\n

Furthermore, a lack of knowledge and awareness about these diseases contributes to delays in diagnosis, care, and prevention of complications, as well as limitations in the resources available to patients.<\/strong><\/p>\n\n\n\n

<\/p>\n\n\n\n

Diagnosis of a rare disease<\/h2>\n\n\n\n

To give you an idea, a patient with a rare disease waits an average of four years for a diagnosis.<\/p>\n\n\n\n

This means that in approximately 20% of cases, it takes 10 years or more to receive a proper diagnosis.<\/strong><\/p>\n\n\n\n

National research<\/h3>\n\n\n\n

Spain is the only country in Europe that has not yet officially recognized the specialty of medical and clinical laboratory genetics within its healthcare system.<\/p>\n\n\n\n

This means that, unlike other countries, there are no physicians specializing in genetics who can lead the diagnosis and management of these diseases within the public health system.<\/p>\n\n\n\n

In fact, currently, the analysis and interpretation of genetic tests falls to professionals in other fields, which can lead to delays and errors in diagnosis.<\/p>\n\n\n\n

It is no coincidence that only 20% of rare diseases are being researched.<\/p>\n\n\n\n

Statistics<\/h4>\n\n\n\n

According to data from the National Institute of Statistics (INE), Spain’s investment in R&D barely reaches 1.5% of its GDP, well below the European average (2.47%) or countries like Sweden, which invest up to 3%.<\/p>\n\n\n\n

Therefore, we believe it is necessary to “increase public funding and encourage private investment through incentives, such as declaring research into rare diseases an Event of Exceptional Public Interest (EPI), to promote new studies and the development of treatments.”<\/p>\n\n\n\n

Other challenges<\/h4>\n\n\n\n

Alongside this research deficit, other worrying challenges exist.<\/p>\n\n\n\n

Among them is early detection, since a lack of awareness about these conditions hinders diagnosis, even among healthcare professionals.<\/p>\n\n\n\n

Many of these diseases are so rare that even doctors are unfamiliar with them, prolonging the uncertainty for patients and their families.<\/p>\n\n\n\n

FEDER <\/a>(Spanish Federation of Rare Diseases) emphasizes that expanding the number of rare diseases included in newborn screening tests would also be beneficial.<\/p>\n\n\n\n

This does not diminish the importance of early detection, which allows for treatment to begin before the most serious symptoms appear.<\/strong><\/p>\n\n\n\n

The importance of early diagnosis<\/h3>\n\n\n\n

There is a certain lack of awareness surrounding rare diseases.<\/p>\n\n\n\n

There has been little research and a lack of public support for issues related to rare diseases.<\/p>\n\n\n\n

Most of these diseases are incurable, but as the rare disease and orphan drug information portal, Orphanet<\/a>, explains:<\/p>\n\n\n\n

\u201cAppropriate treatment and medical care can improve the quality of life of those affected and extend their life expectancy.\u201d<\/p>\n\n\n\n

“Without research there is no cure”<\/h4>\n\n\n\n

In this regard, the progress made in some diseases has been enormous, hence the importance of continuing research to better understand rare diseases and advances in the field of health.<\/p>\n\n\n\n

Faced with these challenges, it is essential to provide accurate and rapid diagnoses for these types of diseases, as well as to facilitate access to treatments to improve patients’ quality of life.<\/strong><\/p>\n\n\n\n

Global Commitment<\/h2>\n\n\n\n

All the inequalities mentioned in terms of access to healthcare for patients with rare diseases have highlighted the urgent need for an international commitment capable of improving the lives, well-being, and social impact of these conditions.<\/p>\n\n\n\n

Sources: <\/a>el mundo<\/a>, novartis<\/a>, Instituto Europeo sobre Enfermedades Raras<\/a><\/p>\n\n\n\n

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Leer m\u00e1s noticias<\/a><\/div>\n<\/div>\n\n\n\n

<\/p>\n","protected":false},"excerpt":{"rendered":"

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