Benefits of genetic testing in adults with unexplained epilepsy include enrollment in a clinical trial of a relevant gene therapy, connection to families with a similar diagnosis, and peace of mind.
A technique known as rapid genome sequencing has provided a diagnosis for 43 per cent of infants with unexplained epilepsy and informed their care in an international partnership.
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It is estimated that rare diseases affect more than 30 million people in the US alone, and between 300 million and 400 million people worldwide. With so many people suffering from rare diseases, you would think biopharma and pharma companies would be heavily invested in finding cures for such a large number of people. But it’s not that straightforward.