It is estimated that about 10% of people in the United States have rare diseases. But what makes a disease rare? How does this distinction affect diagnosis and treatment? In order to improve the understanding of rare diseases, a team of healthcare professionals from across the world have developed an open-access resource to share information about the diagnosis, symptoms, and treatment of rare diseases. This resource uses an artificial intelligence catalog named Mondo, which is essentially a Wikipedia for rare diseases. This group hopes to help people have a better understanding of rare diseases. Some of the leaders, Nomi Harris and Chris Mungall, participated in a Q&A in which they explained their project and their motivations for working on it.
The Q&A
Nomi first talks about the difficulty in understanding a rare disease, as the definition changes depending on the population. As an example, the rare disorder Tay-Sachs disease is scarce within the general population, but it is common in Ashkenazi Jewish groups.
According to Nomi and Chris, issues arise when characterizing rare disease, as healthcare professionals do not always share the knowledge they have, and very few physicians have dealt with cases of certain diseases. When physicians do not know what to look for, they cannot correctly diagnose or treat a rare disease. Chris states that in order for Mondo and the resources that come with it to work, that healthcare professionals across the world must work together to share what they know. Collaboration is essential between a variety of stakeholders such as patient advocacy groups, funding and regulatory agencies, and biomedical researchers.
Berkeley Lab has been playing a role in the sharing of data on rare diseases. Many researchers here work on Mondo and set the standards for sharing biomedical data. The Gene Ontology was created by a team that included some of the same workers from Berkeley Lab, which shows their commitment to ensuring that everybody has access to this information.
Chris, Nomi, and all of the other researchers working on Mondo hope that this resource will help with the diagnosis and treatment of rare diseases. If physicians are able to recognize the characteristics of rare diseases, they will be able to correctly diagnose and treat them.
Find the Q&A here.
