Most rare diseases, defined as those affecting fewer than 200,000 people, are genetic disorders with signs observable at birth or in childhood. However, a number have adult-onsets, such as Crohn, Charcot-Marie-Tooth, ALS or thyroid cancer. Of this subset, many have not been linked to a single genetic mutation or origin and similarly, do not have a usable biomarker for early diagnosis. Are there any genetic markers that can act as risk factors for development of these particular rare diseases?
Idea No. 3