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How AI Is Helping Diagnose Rare Genetic Diseases

#artificialintelligence

AI has the power to search through millions of genetic variants at high speed and identify likely ... [ ] causes of rare diseases, while also comparing what they find with the existing medical literature. 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.


How AI Is Helping Diagnose Rare Genetic Diseases

#artificialintelligence

AI has the power to search through millions of genetic variants at high speed and identify likely ... [ ] causes of rare diseases, while also comparing what they find with the existing medical literature. 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.


How AI Is Helping Diagnose Rare Genetic Diseases

#artificialintelligence

AI has the power to search through millions of genetic variants at high speed and identify likely ... [ ] causes of rare diseases, while also comparing what they find with the existing medical literature. 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.