For Lisa Hawker, getting a diagnosis of her daughter Jaydi's rare genetic condition was life-saving. Jaydi has a rare form of dwarfism which affects around 50 known people across the world. Her early ...

Drug has different mechanism of action than existing injectables ...

Researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders. In a new study, UCLA Health researchers ...

Scientists at the University of California San Diego have uncovered how genetic mutations cause a rare group of inherited neuromuscular disorders and identified promising new strategies to correct ...

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by ...

At Children's Hospital Colorado, Aurora, Colorado, pediatricians will soon have a new ally in diagnosing and identifying complex neurodevelopmental conditions like ...

More children are getting diseases such as celiac disease, type 1 diabetes and inflammatory bowel disease (IBD) than before, ...

Genetic results from the Deciphering Developmental Disorders (DDD) study have enabled thousands of children with severe developmental disorders to receive better treatment. Thousands of children with ...