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For Millions of Chinese with Rare Diseases, Some Relief in Sight

China is set to publish its first national list of rare diseases, to guide policymakers as part of a broader overhaul to improve diagnoses and speed up drug approvals in the world's second-largest drugs market.

Rare illnesses, by definition affecting only a small group of people, are often genetic and costly to treat or control. But they are an increasingly significant segment of the market, and of big pharmaceutical firms' profits. Global sales of so-called 'orphan' drugs to treat rare diseases are set to increase to $209 billion in the next five years from $124 billion this year.

That growth - an important driver for companies like Celgene , Bristol-Myers Squibb, Novartis, Johnson & Johnson and Shire - is double that of the wider pharmaceuticals market, according to consultancy Evaluate.

"China, with the largest population in the world, should also have the largest population of rare diseases," said Peter Fang, head of Asia Pacific for Shire, which has a focus on rare illnesses and a portfolio of specialist therapies. It sells immunology and haemophilia drugs in China. He estimated, however, that for some rare illnesses, like Fabry disease, caused by the build-up of fat-like substances, fewer than five percent of patients in China are diagnosed.

In China's broad but shallow healthcare system, rare illnesses have been largely ignored, leaving patients outside the safety net. Drugs they need are hard to get hold of or are expensive, with no reimbursement under public insurance policies.

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