Skip to content

    Recently Viewed


      An illustration of a crowd of people, all in black and white, with one person in the center wearing a red top and blue pants.

      What is a rare disease?

      It’s estimated that over 300 million people around the globe are living with a rare disease. For Rare Disease Day, here’s what to know.

      Share Article
      share to

      Rare diseases haven’t always received the attention they deserve because they affect relatively few people.

      What makes a disease rare is how prevalent it is—that is, the number of individuals living with it. In the United States, a rare disease is one that fewer than 200,000 people live with. (In other words, 60 per 100,000 individuals.)
      Around the world, rare diseases are identified and addressed differently. The European Union considers a disease rare if it affects no more than 50 per 100,000 people. The World Health Organization, on the other hand, defines a rare disease as one that strikes fewer than 65 per 100,000 people.

      A rare disease is often genetic; 72% of rare diseases analyzed by researchers in a 2019 paper published in the European Journal of Human Genetics were found to have a genetic origin.

      It can often take years for a person to be properly diagnosed with a rare disease, and about 95% of rare diseases do not yet have treatments.

      Other rare diseases could be the result of an infection or allergy. In many cases the exact cause is unknown. Some cancers are also rare diseases.

      Rare diseases tend to appear in childhood. Approximately two-thirds of those living with a rare disease are children. They are, unfortunately, usually incurable. About 95% of all rare diseases do not yet have treatments, according to the National Organization of Rare Diseases.
      “Rare diseases are a global health priority,” says Carina Righetti, Director of the Janssen Pharmaceutical Companies of Johnson & Johnson’s Global Market Access and Policy, Rare Diseases. “People living with a rare disease deserve accurate diagnosis and timely access to treatment just as people with more prevalent conditions do.”

      While living with any illness or disorder is a challenge for patients, families and caregivers, people with a rare disease have a harder time getting a diagnosis and treatment. It can often take years for a person to be properly diagnosed. These challenges extend to rare disease research and development.

      “Improved rare disease awareness, sustained scientific innovation and public policies that support research and development and patient access to new therapies allow us to work together to transform the lives of patients with rare diseases,” notes Righetti.

      Johnson & Johnson is working to tackle these challenges by diving deeper into research with the aim of developing new, transformational medicines that address unmet needs for these patients. These efforts span many disease areas including multiple myeloma, hemolytic disease of the fetus and newborn, AL amyloidosis, rare retinal diseases, pulmonary arterial hypertension and others.

      Patients living with the roughly 7,000 rare diseases identified so far have also helped build awareness and encouraged action—such as by establishing the first annual Rare Disease Day on February 28, 2008.

      Are you living with a rare disease?

      See if you might be eligible to participate in a study that could potentially help lead to more effective treatment.

      More from Johnson & Johnson

      A female scientist conducting research in a laboratory, focusing on orphan drugs for rare diseases

      What is an orphan drug?

      The need for these rare disease therapies is strong, and access to them can be lifesaving. Here’s how Johnson & Johnson is innovating to help give patients options.
      Caring & giving
      Sam Seavey piloting an aircraft from the cockpit

      3 health advocates; 1 Johnson & Johnson program that offers empowerment and connection

      In the quest to solve the toughest health challenges, innovating therapies and finding treatments are essential—but so is supporting the patients living with these diseases. That’s exactly why Johnson & Johnson launched HealtheVoices a decade ago.
      Health & wellness
      3D human heart anatomy illustrations

      Do you know what heart failure is? (Hint: It’s probably not what you think)

      For American Heart Month, learn about the advances Johnson & Johnson is making to help turn heart failure into heart recovery for the millions of adults in the U.S. living with the condition, which occurs when the heart muscle isn’t able to pump blood as well as it should.
      You are now leaving The site you’re being redirected to is a branded pharmaceutical website. Please click below to continue to that site.