Understanding the Role of Active Receptor-Like Kinase 2 and Activin Receptor 1A in Fibrodysplasia Ossificans Progressiva: Progression and Therapeutic Prospects for Heterotopic Ossification

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…
Genetic Disorders

Shoulder Instability in Patients with Kyphoscoliosis Ehlers-Danlos Syndrome and their Surgical Outcomes

Peter Chaftari Background: Kyphoscoliosis Ehlers-Danlos Syndrome (kEDS) is a rare genetic disorder that results in hypermobile joints that are highly susceptible to shoulder dislocations.1 People with kEDS have a mutation in the FKBP22 protein, a chaperone protein that assists in the proper folding of collagen type III in the rough…
Engineering Medicine Featured Abstracts Genetic Disorders