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Real-Time Hope for Rare Diseases

multi-color graphical image of the human genome

PharmaVOICE

Advances in sequencing technology combined with AI tools that make it possible to analyze huge volumes of data very quickly, mean determining a patient's genetic disease can now be done within days or weeks, compared with months and years, and at a much lower cost than just a few years ago.

"The incredible investments in full genome sequencing and interpretation have allowed patients or their caregivers to quickly realize whether they are suffering from a monogenetic disorder," says David Fischer, Ph.D., executive director discovery sciences of Scientific Advisory Services at Charles River.

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