When researchers study rare diseases, breakthroughs can be made that help patients. Revisit studies that are putting genetic puzzle pieces together to tackle these conditions.

Despite efforts to improve the standard of care for children with sickle cell disease, the nation falls short, says pediatrician

Reactivating genes normally active before birth could prevent the harmful effects of a blood disorder with few treatment options.

Despite the proven lifesaving benefit of antibiotics for children with this inherited blood disorder, only 18 percent receive them.