National Rare Diseases Day

A diverse group of people with unique hairstyles, clothing styles and accessories, coming together to support individuals with rare diseases. Each person carries a symbolic item representing a different rare disease.. — National rare diseases day illustration

Welcome to National Rare Diseases Day, a day to bring awareness to those who are living with rare diseases and to show support for their loved ones. On this day, we shine a light on conditions that may not always get the attention they deserve. So let's dive into the fascinating world of rare diseases and learn more about their impact on individuals and communities around the globe.

When is Rare Diseases Day?

It's national rare diseases day on the 29th February.

The Origins of National Rare Diseases Day

Did you know that National Rare Diseases Day was established to raise awareness about the challenges faced by people living with rare diseases? It all started with a simple question: how can we shed light on these conditions and provide support for those affected?

In 2008, Rare Diseases Day was launched internationally by the European Organization for Rare Diseases (EURORDIS) to address this exact issue. The aim was to educate the public, policymakers, and healthcare professionals about rare diseases and the impact they have on the lives of those affected.

Since then, this significant observance has gained momentum worldwide, with various countries recognizing the day and organizing events to spread knowledge and support individuals facing the complexities of rare diseases.

History behind the term 'Rare Diseases'

1971

The Beginning

In 1971, the term 'rare diseases' first emerged as a way to describe medical conditions that affect a small number of people in the population. It was coined by medical professionals to encompass a wide range of diseases and disorders that are uncommon and often go undiagnosed or misdiagnosed.

1949

The Birth of Rare Diseases

In 1949, the term 'rare diseases' was first introduced by Dr. Orville Lerlie in his article titled 'The Problem of Rare Diseases' published in the California Medical Association Journal. Dr. Lerlie proposed using the term to describe medical conditions that affect a relatively small number of people within a population. This marked the beginning of a new understanding and classification of diseases.

1983

The Term is Coined

In 1983, the term 'rare diseases' was coined to describe a group of medical conditions that affect a small percentage of the population. These diseases are characterized by their low prevalence, with some affecting only a handful of individuals worldwide. The term 'rare diseases' was chosen to highlight the fact that these conditions are often neglected in terms of research, funding, and treatment options.

1971

The Birth of Orphan Drugs

In 1971, Dr. Henry T. Wordinger, a pediatrician, coined the term 'orphan drugs' to describe medications that were developed to treat rare diseases affecting a small number of people. The name was inspired by the fact that these diseases were often overlooked or 'orphaned' by the pharmaceutical industry due to the limited market potential. Dr. Wordinger's intention was to raise awareness about the need for research and development of drugs for rare conditions.

1976

The Birth of Orphan Diseases

In 1976, the term 'orphan diseases' was coined by the United States National Organization for Rare Disorders (NORD), a non-profit organization dedicated to supporting individuals with rare diseases. The term focused on the limited attention and funding these diseases received, comparing them to orphaned children who often lack support and resources.

2002

First recognition

In 2002, the term 'rare diseases' gained recognition as a medical classification. The concept behind rare diseases is that they affect a small percentage of the population, typically less than 1 in 2,000 individuals. These diseases often have complex symptoms and are challenging to diagnose and treat. While individual rare diseases might be uncommon, collectively they affect a significant number of people worldwide.

1909

The Birth of Modern Genetics

In 1909, the term 'rare diseases' did not exist, but the foundation of modern genetics was laid with the publication of the book 'The Elementary Units of Heredity' by William Bateson. This marked the start of a new era in understanding genetic disorders, which would later be classified as rare diseases.

1960

Discovery of Orphan Diseases

In 1960, an article by Dr. Ashtrya and Dr. Garrod on 'Mendel's law on inheritance' brought attention to a group of diseases that were not well understood. These diseases were described as 'orphan diseases' due to their rarity and the lack of attention they received from the medical community. Orphan diseases were characterized by their low prevalence and the absence of effective treatments.

1997

Orphan Drug Act

In 1997, the Orphan Drug Act was passed by the United States Congress. This legislation aimed to incentivize pharmaceutical companies to develop treatments for rare diseases by offering financial and regulatory benefits. The Orphan Drug Act defined rare diseases as those that affect fewer than 200,000 people in the United States. This act played a significant role in raising awareness about rare diseases and providing resources to develop treatments.

1983

The Orphan Drug Act

In 1983, the United States Congress passed the Orphan Drug Act, marking a crucial turning point in the recognition and treatment of rare diseases. This legislation provided incentives, such as tax credits and exclusive marketing rights, to pharmaceutical companies that developed drugs for rare conditions. The Orphan Drug Act encouraged investment in research and streamlined the drug approval process for rare disease treatments.

1976

Foundation of the National Organization for Rare Disorders

In 1976, a group of individuals affected by rare diseases came together to address the challenges faced by those living with these conditions. They founded the National Organization for Rare Disorders (NORD), the first advocacy organization dedicated to rare diseases. NORD aimed to raise awareness, advocate for research funding, and support individuals living with rare diseases.

1983

The Orphan Drug Act

In 1983, the Orphan Drug Act (ODA) was passed in the United States. This legislation aimed to incentivize pharmaceutical companies to develop therapies for rare diseases by offering tax credits and marketing exclusivity. The Act also defined 'orphan diseases' as conditions affecting fewer than 200,000 individuals in the US.

1945

Inborn Errors of Metabolism

In 1945, Sir Archibald Garrod introduced the concept of 'inborn errors of metabolism.' He described a group of rare diseases that are caused by enzyme deficiencies, leading to the improper breakdown of metabolites. This contribution helped to identify and understand the underlying causes of several rare diseases.

2008

Global awareness

By 2008, the global awareness of rare diseases began to increase. International organizations, patient advocacy groups, and healthcare professionals started recognizing the need for focused research, improved diagnostics, and better support systems for individuals and families affected by rare diseases. The aim was to address the unique challenges faced by this population and ensure equal access to medical care and treatments.

1983

Recognition and Research

The year 1983 brought significant developments in the field of rare diseases. The U.S. Congress passed the Orphan Drug Act, providing incentives for pharmaceutical companies to develop drugs for rare diseases. This legislation marked a turning point in the recognition and research of rare diseases, with more resources being allocated to their study and treatment.

1983

Official Definition

In 1983, the Orphan Drug Act was passed in the United States, providing a legal definition of a 'rare disease.' According to the act, a rare disease is one that affects fewer than 200,000 people in the country. This legislation marked a significant milestone in the recognition and research of rare diseases.

2011

Official recognition by the United Nations

The United Nations marked a significant milestone in 2011 by adopting a resolution for rare diseases. The resolution urged member states to implement national plans and policies to promote research, improve healthcare services, and raise awareness about rare diseases. This official recognition at the international level further emphasized the need for collaboration and concerted efforts to tackle the challenges associated with rare diseases.

1990

International Classification of Diseases

The World Health Organization (WHO) introduced a specific chapter on 'Rare Diseases' in the International Classification of Diseases (ICD) in 1990. This highlighted the global significance of rare diseases and provided a standardized classification system to facilitate research, diagnosis, and treatment.

1983

The Orphan Drug Act

In 1983, the United States passed the Orphan Drug Act to address the lack of treatments for rare diseases. This act provided incentives for pharmaceutical companies to develop drugs for rare diseases, leading to significant advancements in research and treatment options for patients with these conditions.

2008

First International Rare Disease Day

In 2008, the first International Rare Disease Day was held on the last day of February. This day was established to raise awareness among the general public and decision-makers about rare diseases and their impact on patients and their families. The initiative was led by EURORDIS (Rare Diseases Europe) and soon gained global recognition. Rare Disease Day continues to be observed worldwide, with various activities and events organized to promote understanding and support for those affected by rare diseases.

1994

Defining Rare Diseases

In 1994, the World Health Organization (WHO) established a specific definition for rare diseases. According to the WHO, rare diseases are conditions that affect a small number of individuals within a population. The exact threshold for rarity may vary between countries, with some defining it as affecting less than 1 in 2,000 people, while others use different criteria.

1999

Expansion of Rare Disease Terminology

In 1999, the term 'rare diseases' began to gain popularity and replaced 'orphan diseases' as the preferred phrase. This shift aimed to reduce the stigma associated with the word 'orphan' and further emphasize the need for widespread understanding and support for those living with rare diseases. The change in terminology helped raise awareness and promote inclusivity.

1983

Orphan Drug Act Legislation

In 1983, the United States Congress passed the Orphan Drug Act (ODA) to incentivize the development of treatments for rare diseases. This legislation provided financial and regulatory incentives to pharmaceutical companies to encourage the development of drugs for rare conditions. The ODA played a crucial role in advancing research and development efforts for rare diseases.

1999

Global Recognition

In 1999, the World Health Organization (WHO) established the International Classification of Diseases for Rare Diseases (ICD-10), which provided a standardized coding system for rare diseases. This classification helped improve the global identification, tracking, and understanding of these conditions.

1994

International Classification of Diseases

In 1994, the World Health Organization (WHO) introduced the 10th revision of the International Classification of Diseases (ICD-10). This comprehensive medical coding system included a specific category (Chapter XVII) for rare diseases. This acknowledgment by the WHO brought increased attention to rare diseases and facilitated their identification and classification.

2002

European Organization for Rare Diseases

In 2002, the European Organization for Rare Diseases (EURORDIS) further popularized the term 'rare diseases' within Europe. EURORDIS dedicated itself to improving the quality of life for people living with rare diseases and advocated for policies to address their unique challenges.

2008

International Rare Disease Day

The year 2008 marked the first International Rare Disease Day, which is celebrated annually on the last day of February. This global campaign aims to raise awareness about rare diseases among the general public, policymakers, and healthcare professionals. It provides a platform for rare disease communities to come together, share their experiences, and advocate for better support, research, and treatment options.

2013

New Classification System

In 2013, the World Health Organization (WHO) introduced a new classification system for rare diseases called the International Classification of Diseases (ICD). This system aimed to provide a standardized way of classifying and coding rare diseases, enabling better data collection and analysis. The ICD includes specific codes for different rare diseases, facilitating research, epidemiological studies, and healthcare planning.

2002

Awareness Campaigns

In 2002, the first Rare Disease Day was launched by EURORDIS (European Rare Diseases Organisation). This annual event, celebrated on the last day of February, aims to raise awareness about rare diseases and encourage research and support for affected individuals and their families.

2015

Rare Disease Day

In 2015, Rare Disease Day was established as an annual awareness-raising campaign. Held on the last day of February every year, this initiative aims to promote understanding, empathy, and solidarity for individuals living with rare diseases and their families. The day encourages various activities, events, and information dissemination to improve knowledge and engage the wider public in supporting the rare disease community.

2008

The World Rare Disease Day

In 2008, the first World Rare Disease Day was observed on February 29th, a rare leap day that occurs only once every four years. This international campaign was initiated by the European Organization for Rare Diseases (EURORDIS) to raise awareness about rare diseases and advocate for the rights of patients. Since then, World Rare Disease Day has been celebrated annually, uniting patient organizations, healthcare professionals, researchers, and policymakers in more than 100 countries.

1994

World Rare Disease Day

World Rare Disease Day was first observed in 1994 by EURODIS, a non-profit alliance of patient organizations dedicated to rare diseases. The aim of this day was to raise awareness and improve the lives of individuals affected by rare diseases. Since then, it has grown into an international event observed on the last day of February each year.

2019

Global Collaborations and Research

In recent years, there has been a significant increase in global collaborations and research efforts focused on rare diseases. International organizations, governments, and scientific communities have come together to share knowledge, resources, and expertise. This collaboration has led to the discovery of new treatments, improved diagnostic techniques, and a deeper understanding of the underlying causes of rare diseases. Despite the challenges, progress continues to be made in advancing the field of rare diseases.

2008

International Rare Disease Day

In 2008, the first International Rare Disease Day was observed on February 29th, a date that symbolizes the rare occurrence of rare diseases. This annual awareness campaign aims to raise public understanding about rare diseases and advocate for better support and research funding for patients and their families.

2013

International Cooperation

In 2013, the International Rare Diseases Research Consortium (IRDiRC) was established to bring together researchers, industry, and patient advocacy groups from around the world to collaborate and accelerate research efforts in rare diseases. This global initiative has paved the way for increased cooperation and knowledge sharing.

2015

The Burden of Rare Diseases

As of 2015, it was estimated that there are over 6,000 identified rare diseases globally, affecting approximately 350 million people worldwide. Despite the individual rarity of each disease, the collective impact is significant. Rare diseases often pose immense challenges in terms of diagnosis, treatment, and access to specialized care. Advances in research and medical understanding continue to pave the way for improved rare disease management and support.

2008

Official World Rare Disease Day

World Rare Disease Day was officially established on February 29th, 2008, by EURORDIS and its Council of National Alliances. This annual awareness day aims to raise public understanding of rare diseases and the impact they have on individuals and their families worldwide.

2020

Advancements in research and treatment

In recent years, there have been significant advancements in research and treatment options for rare diseases. The advent of precision medicine, genetic sequencing technologies, and targeted therapies has provided new avenues for diagnosing and managing rare diseases. Collaborative efforts between researchers, clinicians, and patient advocacy groups have resulted in improved outcomes and enhanced quality of life for individuals living with rare diseases.

2004

Establishment of Rare Diseases Day in the US

In 2004, the National Organization for Rare Disorders (NORD) established Rare Disease Day in the United States. This day aimed to unite the rare disease community, raise awareness, and advocate for improved policies and research funding. Rare Disease Day has since become a significant event in the rare disease community, fostering global collaboration and advocacy efforts.

2010

Advances in Technology and Collaborative Efforts

Throughout the 2010s, there have been significant advances in technology, genetics, and medical research methods, fueling further progress in understanding and treating rare diseases. Improved diagnostic tools, such as genetic testing, have led to early identification and intervention for many rare diseases. Additionally, collaborative efforts between researchers, healthcare professionals, patient advocacy groups, and pharmaceutical companies have facilitated the development of targeted therapies and improved the overall management of rare diseases.

2019

Global Efforts and Medical Breakthroughs

In recent years, there has been a significant increase in global efforts to address rare diseases. Advances in medical research and technology have led to breakthroughs in the understanding and treatment of rare conditions. Collaborative initiatives and networks have been established to facilitate information sharing, support research, and improve patient care. Despite the challenges that remain, progress continues to be made in the field of rare diseases.

2013

United Nations Recognizes Rare Diseases

In 2013, the United Nations highlighted the importance of addressing rare diseases by adopting a resolution that urged member states to implement national plans and policies. This recognition at an international level further emphasized the need for collaboration and support in the field of rare diseases.

2021

Advancements in Rare Disease Research

Today, significant progress has been made in the field of rare disease research. Advanced genetic techniques, such as next-generation sequencing, have accelerated the identification of gene mutations and have led to targeted therapies for specific rare diseases. The term 'rare diseases' now encompasses a wide range of disorders, each with its own unique challenges and treatment approaches.