Patisiran was associated with a moderate improvement in cardiac symptoms in patients with transthyretin amyloid cardiomyopathy (ATTR-CM), a study found.

A multimodal approach combining vosoritide and limb lengthening led to gains in stature, gait, and emotional well-being in achondroplasia.

Conducting a RCT of the Accessercise app among adults with physical disabilities, including achondroplasia, is feasible and acceptable.

Tafamidis is linked to reduced all-cause mortality and a lower incidence of congestive heart failure exacerbations in ATTR-CM, a study found.

Using the new method, the researchers were able to successfully identify 15 cases of transthyretin mediated amyloid cardiomyopathy (ATTR-CM).

Neonatal anthropometric measurements may serve as indicators for the early detection of skeletal dysplasias, including achondroplasia.

Özge’s background is in research; she holds a MSc. in Molecular Genetics from the University of Leicester and a PhD. in Developmental Biology from the University of London. Özge worked as a bench ...