ISB News

Analyzing Family Genomics Reveals New Culprit in Rare Disease

3 Bullets: Adams-Oliver syndrome (AOS) is a rare congenital disease characterized by scalp lesions and limb defects. Additional vascular abnormalities and heart defects can lead to early death in some patients. By analyzing twelve families affected with the disease, we identified causal mutations in a new disease gene, NOTCH1, in five families. NOTCH1 is likely to be the major cause of AOS. NOTCH1 codes for a transcription factor that governs…