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Researchers at the Rare Genomics Institute look at how families finance the cost of diagnostic exome sequencing.

The devices, which could one day treat children with esophageal atresia and short bowel, were recently tested in pigs.

Researchers stumbled across the connection while searching for ways to reduce vision problems in people with achromatopsia.

Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.

Government incentives, advances in technology, and an army of patient advocates have spun a successful market—but abuses of the system and exorbitant prices could cause a backlash.

Crowdfunding can power investigations into diseases that would otherwise receive little attention.

When the O’Neills learned that their daughter had Sanfilippo syndrome, a devastating rare disease, they created a GoFundMe campaign that raised $2 million in less than a year.

Though Calliope Joy’s disease is too far progressed to be treatable, her parents have helped other children with metachromatic leukodystrophy get access to an experimental therapy.

Two decades after a successful crowdfunding campaign, some clinical trial patients have seen improvements—but there’s still no approved treatment for the disease.

Scientists work out the specific genes and biochemical steps required for digesting the very drugs designed to kill microbes.

A new technique reveals certain neuronal connections grow larger and denser when memories are made.

An analysis of abstracts from American Geophysical Union meetings reveals that female scientists get fewer speaking opportunities than men.