For a child with a rare disease, an accurate 
and timely diagnosis can be the key to a longer healthier life

For a child with 
a rare disease, an accurate and timely diagnosis can be the
key to a longer
 healthier life

Who We Are

We are a multi-disciplinary group of rare disease advocates, researchers, physicians, and innovators from across the globe with a commitment to shortening the long and arduous diagnostic journey.

Our Vision

A clear path to timely, accurate diagnosis for all children

Frequently Asked Questions

What is a rare disease?

Rare diseases are diseases that affect a small number of people compared to the general population. Each rare disease affects fewer than 1 in 2,000 people. Most rare diseases are genetic, and are present throughout a person’s entire life, even if symptoms do not appear immediately. There are over 6,000 different types of rare diseases and disorders, with more being discovered.

Why was the Global Commission formed?

The barriers to diagnosis are complex and intertwined. Tackling one alone will not maximize the impact to improve patient lives. The Global Commission members recognized that reducing the time to diagnosis was critical in improving the lives of patients and their families. During 2018, a range of physicians, medical researchers, patient advocates, and others were consulted to better understand the diagnostic odyssey, especially the barriers that patients, their families, and their healthcare providers face along their journey to diagnosis. 

What is the "diagnostic odyssey?"

The diagnostic odyssey is a succession of steps, starting from the onset of symptoms to diagnosis of the disease. The average length of time from symptom onset to an accurate diagnosis of a rare disease is about 5 years or longer. Rare diseases often go undiagnosed because patients, families, and physicians have limited awareness of the disease and rare disease symptoms may not always be evident to healthcare providers who have never encountered the disease. Symptoms are often hidden behind more common illnesses and initially may appear to be of only minor concern. Delays in diagnosis can lead to inappropriate disease management as well as disease progression, and a misdiagnosis can lead to additional interventions later deemed to be inappropriate given the underlying disorder. 

What type of rare diseases will this Commission focus on?

All rare diseases. Although there is a broad diversity of diseases that come with a wide range of symptoms, barriers to diagnosis are often similar. Solutions this Commission is focused on will have the potential to improve diagnosis time for all rare diseases. 

Why focus on children and not older people?

By focusing on children, the Global Commission can impact a large segment of the rare disease community. Additionally. although the Commission is focused on children the findings of the Commission may have applications for all rare disease patients, and. potentially, the medical field at large.

What are the next steps for the Global Commission?

Moving forward, we will be developing additional case studies as part of a resource compendium. Please contact us with your recommendations of examples to potentially turn into case studies as well as other tools for diagnosis that could be useful for the rare disease community.

Recent News

Browse here for the latest news in the rare disease space.