Delivering effective treatments for patients suffering from rare diseases is a major global health challenge. Over 7000 rare diseases affect 300 million globally. Less than 10% of patients receive treatment, and only 1% are managed using an approved protocol. Delayed diagnosis and lack of quality information are common denominators in the odyssey faced by patients. Diagnoses can often reach a dead end, with no concrete medical or clinical treatment options. Could artificial intelligence (AI) break this vicious circle? Would an AI algorithm, fed by high quality data, and employing sophisticated pattern recognition, hold the key to better diagnosis pathways? AI could facilitate screening of patients at risk and subsequent referrals, and enable early interventions to prevent degenerative progression of the disease. This breakthrough could fuel the development of new therapies for rare disorders and deliver better care.