Rare diseases, common challenges

Nature Genetics
Volume 54 Issue 3, March 2022


Editorial | 14 March 2022
Rare diseases, common challenges
The genetics community has a particularly important part to play in accelerating rare disease research and contributing to improving diagnosis and treatment. Innovations in sequencing technology and machine learning approaches have positively affected diagnostic success, but more coordinated efforts are needed to move towards effective therapies or even cures for these important, and sometimes overlooked, class of diseases.