Some scientists are not yet convinced that the list is accurate.

Doctors treated the fetus, who has alpha thalassemia major, with cells from her mother’s bone marrow.

Complications during pregnancy may act via the placenta to magnify the effects of genetic risk factors.

The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.

Victor McKusick’s pioneering investigations provided insight into hereditary disorders.

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.