Rare medical disorders are extremely challenging for patients and their families, and for researchers trying to study them. As a scientist and father of a 41-year-old son with CHARGE syndrome, which affects the heart, ears, eyes and other organs, I believe that we need stronger commitment, a more consistent approach and different types of knowledge and skills to move these investigations forward.

Promising initiatives include the International Rare Diseases Research Consortium and European Union projects on rare disorders under Horizon 2020. We still urgently need to improve and speed up genetic diagnosis, and to understand and mitigate the effects of these disorders on people's health.

This calls for an interdisciplinary strategy, but it faces significant methodological challenges. In a small study of 81 participants, for example, we found that those with Down's, Williams or Prader–Willi syndromes all had health problems related to diet and inactivity; also, there were important differences between disease groups and between women and men (M. Nordstrøm et al. Food Nutr. Res. 59, 25487; 2015). Although such differences need to be underpinned by a wider evidence base from international collaborations, they indicate that a more sophisticated and personalized approach to care is paramount.

People with rare syndromes lack the political power of larger patient groups, so advances depend on holistic scientific insights and on funders overcoming their reluctance to support marginalized research.