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.

Groundbreaking new research marrying high-intensity focused ultrasound with genetically modified cells may spur bone and soft tissue regeneration.

Advances in gene therapy are yielding new options for treating inherited retinal degenerations, giving specialists new tools — and new hope for patients and families.

Newer genetic tests introduce more ambiguity, but a new study finds patients are not overreacting to uncertain results.

A deeper dive into genomic data can enable scientists to identify previously unrecognized differences between tumor cells.

Treatment planning for a painful and potentially disabling condition could be made easier with a new model for assessing genetic risk in people with psoriasis.