Genetics

Researchers describe genetic basis of rare human diseases

Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome ...

Neuroscience

Common brain malformation traced to its genetic roots

About one in 100 children has a common brain disorder called Chiari 1 malformation, but most of the time such children grow up normally and no one suspects a problem. But in about one in 10 of those children, the condition ...

Medications

Beta blockers can repair malformed blood vessels in the brain

Propranolol, a drug that is efficacious against infantile haemangiomas ("strawberry naevi," resembling birthmarks), can also be used to treat cerebral cavernous malformations, a condition characterized by misshapen blood ...

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