How AI Is Helping Diagnose Rare Genetic Diseases

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.

The full Forbes article can be viewed at this link.