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Rare Disease

4 GoKawiil briefs on this topic

Report urges faster use of whole genome sequencing to cut rare disease diagnosis delays

A commentary argues that healthcare systems should stop delaying whole genome sequencing for certain patients, saying rare disease diagnoses often take years to reach. It contends the cost of that delay should be counted not just in time but in dollars, clinical capacity, and missed chances for better treatment.

Industry voices stress diagnosis as key step in rare disease care

A commentary highlights how families affected by rare or genetic diseases often endure months or years of appointments, tests and referrals before receiving a diagnosis. It argues that once clinicians obtain a clear diagnosis, they can tailor treatment approaches and connect patients with appropriate specialists and resources.

Personal essay argues AI could tailor medicine to rare, atypical cases

A writer recounts their son's diagnosis at 18 with a disease typically seen in patients in their late sixties, describing how the experience reshaped their view of AI's role in medicine. The essay argues that despite growing public backlash against AI, the technology holds promise for personalizing healthcare, especially for patients whose conditions don't fit standard patterns.

FDA Leadership Changes Spark Investor Return to Rare-Disease Biotech

Investors are reportedly re-entering rare-disease drug stocks after the departure of stricter FDA regulators under the Trump administration. The shift in agency leadership has reduced concerns about tougher approval hurdles that had previously discouraged investment in this biotech segment.