Yale researchers identified an underactive mTOR pathway as a cause of lissencephaly and reversed brain malformations in patient-derived organoids using a drug. This breakthrough may offer a treatment ...

Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...

Researchers have identified a molecular mechanism driving the structural abnormalities leading to lissencephaly that have been elusive.

Tegretol and Lamictal are antiepileptic drugs that also treat other conditions. Learn more about the differences and similarities between the two drugs.

Cannabidiol is under clinical development by Jazz Pharmaceuticals and currently in Phase II for Rett Syndrome.

A mom built an apartment door for her daughter who will never have her own home due to her rare illnesses, captivating the internet with her heartwarming act. Melissa Bowers (@lissa.jade1), 39, from ...

A six-day inquest at Norfolk Coroner’s Court heard about Holly Goodchild’s life and the events leading up to her death at the ...

When a young New York boy was diagnosed with a rare genetic disorder, hope came in an unlikely form — a golden retriever ...

Angus Powell, three, carries a rare mutation in the CRELD1 gene. The disorder it causes has now been named: Jeffries-Lakhani ...

A research team led by Professors Wu and Cai at the State Key Laboratory of Transducer Technology, AIRCAS has developed a ...