A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

On the cusp of becoming a teenager, Violet Fuchs loves music and cherishes family trips to Disney World. But since she was an infant, she and her family have had to fight for those bits of normalcy as ...

An international team of researchers has discovered what causes an unusual and incredibly rare genetic condition, giving hope to the families with it and others with related disorders. Led by the ...

Autism is a topic many families think about, especially when a child shows signs of developmental differences. People often wonder what causes autism, whether it’s something in the environment, a ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...