Speaking at a conference on rare diseases in Beijing, Ding Jie, vice director of the Peking University First Hospital, said many patients failed to get a correct diagnosis.
"This is because of doctors' limited medical knowledge about rare diseases, most of which are genetic and therefore difficult to confirm.
It is also difficult for diagnosed patients to receive timely treatment due to a shortage of effective drugs, most of which are imported from foreign countries. They usually take a long time to receive approval and get to market", Ding was quoted as saying by state-run Xinhua news agency.
According to the World Health Organisation, a rare disease is one that affects a small percentage of the population, ranging from 0.65 in 1,000 to 1 in 1,000. More than 6,000 rare diseases have been confirmed so far.