Megan Thomas Background: Down syndrome (DS), caused by trisomy 21, is strongly associated with congenital heart defects (CHDs), especially atrioventricular septal defects (AVSDs). AVSD develops from abnormal formation of the endocardial cushions and atrioventricular canal during embryonic heart development, leading to improper septation and valve defects. However, not all individuals…

Steven Perez Background: FOP stands as an enigmatic genetic disorder, marked by HO formation and debilitating musculoskeletal abnormalities.1,6 The dysregulation of ACVR1, alias ALK2, precipitates an aberrant activation cascade, disrupting normal bone morphogenetic protein (BMP) signaling and promoting ectopic ossification.2 Current therapeutic options are limited, necessitating innovative approaches to mitigate…