A major problem in the rare disease sector is the lack of bridges between research and the clinic.
While rare diseases truly are rare, their occurrence unfortunately isn't. Indeed, 1 out of 10 Americans suffer from one of 7000 different rare diseases. What it means is that it is extremely difficult for a physician to be expert in all of these 7000 diseases, and this leads to different problems for patients:
1) MEDICAL WANDERING
Patients with rare disease often find themselves jumping many times from one MD to another before discovering what they have. This of course delay treatment and can alter response to treatment.
2) LIMITED INFORMATION ON THEIR CONDITION
Beyond diagnosis, MDs have little (or at least incomplete) knowledge on the given disease. They are rarely (pun intended) up to date with the latest research in the field.
3) NO PERSONALIZED TREATMENT
Because MDs are rarely experts in one specific rare disease (not a viable option), they are not able to provide personalized / precision medicine.