"We love her little smile." A baby who was born with a rare form of dwarfism is now home after spending the first six months of her life in the hospital. Paisley Courson was born with a severe ...

A McGill-led team of researchers have made an important discovery shedding light on the genetic basis of a rare skeletal disorder. The study, published in Nature Communications, reveals that a defect ...

Despite challenges of rare disease drug development, genetic skeletal disorder (GSD) therapies continue to be developed through novel approaches such as drug repurposing and in-utero stem cell ...

Please provide your email address to receive an email when new articles are posted on . The FDA granted orphan drug designation and rare pediatric disease designation for a treatment for autosomal ...

Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development. The new online resource gives detailed information about more than 80 of ...

Gaten Matarazzo, known for playing Dustin in Stranger Things, recently underwent another surgery. The 17-year-old actor took to Instagram to announce the news. CCD is a skeletal disorder caused by a ...

An international team of researchers, led by the University of Granada (UGR) in Spain, has successfully isolated a bioactive compound present in cocoa bean extract that has proven effective in ...

A University of Cincinnati researcher has received a five-year $2.3 million grant to study the role a protein in muscles plays in the development of a rare disease. The grant is from the National ...

Skeletal muscle channelopathies and myotonic disorders constitute a heterogeneous group of neuromuscular conditions caused by mutations that impair the function of ion channels, including sodium and ...