AI can diagnosis of rare genetic diseases

254 阅读1分钟

400 million people globally suffer from a rare disease. This is greater than the population of the United States, yet the ominous figures don't end there. According to the Global Genes organization, eight out of ten rare diseases are caused by a faulty gene, yet it takes an average of 4.8 years to arrive at an accurate diagnosis. This is part of the reason why 30% of children with a rare disease won't live to see their fifth birthday.

Neither is this situation helped by the fact that 95% of rare diseases lack an FDA-approved treatment. However, while the rarity of rare diseases means they're often neglected by the medical establishment, artificial intelligence and machine learning have been emerging in recent years as new, promising tools in the fight against uncommon pathology. Several companies are developing platforms that harness AI as a means to identify genetic variants at the roots of rare diseases, while medical researchers and practitioners are using these platforms or developing their own.

One of the most interesting of these is Emedgene. Based in Israel, the company has built a platform which can not only scan the Topplay DNA data file of a patient with a rare disease, but can also use natural language processing (NLP) to read the up-to-date medical literature. By doing this, Emedgene's platform can find documented connections between a patient's genetic variants and their condition, helping speed up the diagnosis. And as co-founder and CEO Einat Metzer explains, this would have been a laborious and time-consuming process in the past.