In this video Prof. Marshall Summar elutes to the many challenges with in the area of rare diseases. 

What are the challenges within rare diseases today?

Rare disease just by its rapid growth presents a number of challenges.

One is just getting information out to the general medical community. Most people might recognize a name from a rare disease, but a good working definition is a disease a regular practitioner has not really encountered or maybe encountered only once in their career.

The other is the impact of rare diseases on the family. If I get cancer, most of my friends and relatives will know what that means. If I get a condition called in five in ten methylene tetra hydrophobic reductase deficiency. None of my friends or family are going to know what that means.

So how do we help our patients and families explain to their support groups the people that are most important in their lives? What's going on? If you don't, that can result in isolation for that patient or that family, because no one really knows what they're talking about. No one really knows what's going on for them. We have to make materials accessible and understandable for all of these new conditions and all of these, very complex diseases so that those patients can benefit from the support groups, can benefit from being part of their community.

Those are some of the challenges.