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They Never Wanted to Be Medical Mysteries

This news story reports on a patient involved in the new NIH undiagnosed diseases program, run by NHGRI's William Gahl. "Since the undiagnosed disease program was launched last summer, roughly 1,500 people have contacted Gahl or his staff, and more than 500 of them have submitted their medical records for consideration," the article says. "For months now, Gahl has expected this stream of applications to taper off. Yet four or five more applications arrive in the mail every day." The story follows the patient, Summer Stiers, and her experience with the new program.

The Scan

Study Finds Few FDA Post-Market Regulatory Actions Backed by Research, Public Assessments

A Yale University-led team examines in The BMJ safety signals from the US FDA Adverse Event Reporting System and whether they led to regulatory action.

Duke University Team Develops Programmable RNA Tool for Cell Editing

Researchers have developed an RNA-based editing tool that can target specific cells, as they describe in Nature.

Novel Gene Editing Approach for Treating Cystic Fibrosis

Researchers in Science Advances report on their development of a non-nuclease-based gene editing approach they hope to apply to treat cystic fibrosis.

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.