Marking Rare Disease Day: Understanding What Makes a Disease Rare

Marking Rare Disease Day: Understanding What Makes a Disease Rare

February 28th is observed as Rare Disease Day globally. A rare disease is defined as a condition that affects a small number of people. In the United States, a rare disease is one that affects fewer than 200,000 people. Nearly 7,000 diseases are considered rare and affect more than 400 million people worldwide. Understanding what makes a disease rare can help with timely diagnosis, adequate treatment, and quality of life.

What Makes a Disease Rare?

A disease is considered rare if it affects a small number of people. However, the exact number of people depends on the country’s population and the prevalence of the disease. According to the National Organization for Rare Disorders (NORD), a disease is considered rare if it affects less than 200,000 people in the United States. However, in Europe, a disease is considered rare if it affects less than one in 2,000 people.

There are different types of rare diseases – genetic diseases, autoimmune diseases, infectious diseases, and environmental diseases. Genetic diseases are caused by an abnormality in an individual’s DNA. Autoimmune diseases occur when the immune system mistakenly attacks healthy cells. Infectious diseases are caused by bacterial, viral, or fungal infections. Environmental diseases are attributed to environmental factors such as pollution, exposure to toxic chemicals, and radiation.

Challenges Faced by Patients with Rare Diseases

Patients with rare diseases face significant challenges, including a lack of awareness and understanding of rare diseases among healthcare professionals and society. Many rare diseases are unknown or misdiagnosed, leading to delayed diagnosis and treatment. Additionally, many rare diseases do not have effective treatments or cures, resulting in a poor quality of life for the patient.

Rare diseases are also expensive to diagnose and treat. Many insurance companies do not cover the cost of treatment for rare diseases, which can be overwhelming for families. Moreover, the patients and their families may face social isolation and discrimination due to the rarity of the disease.

Advancements in Rare Disease Research

Although many rare diseases do not have a cure, there have been significant advancements in rare disease research. The field of genomics has led to new approaches to diagnosis, with DNA sequencing technologies, including whole-genome sequencing, identifying the underlying genetic mutations for many rare diseases. This has enabled earlier diagnosis and personalized treatment options, leading to a better quality of life for patients.

Several drugs for rare diseases have been approved by the US FDA and European Medicines Agency (EMA), representing significant progress in treatments for rare diseases. Additionally, numerous organizations, including NORD and Global Genes, are committed to raising awareness and funding for rare diseases’ research.


Rare diseases affect millions of people worldwide, and there are thousands of rare diseases with no effective treatment or cure. Understanding what makes a disease rare can lead to timely diagnosis, personalized treatment options, and improved outcomes for patients. Advancements in research have led to promising treatments for rare diseases, and organizations’ efforts to raise awareness have helped bring rare diseases to the spotlight. On Rare Disease Day and every day, we must continue to support research, raise awareness, and advocate for patients with rare diseases.

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