Researchers report first clinically actionable findings for a rare blood vessel disease in a study of four unrelated families, all with the same genetic variant.
New genetic research finds spontaneous coronary artery dissection, or SCAD, heart attacks may be more similar to different diseases than to other heart attacks.
Development is first step to helping children with the rare epilepsy syndrome.
New technique provides insight into the role of genes in brain plasticity and cognitive disorders.
Mouse models of two rare brain development disorders see their conditions corrected through manipulation of histone H3K4me.
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.