Genetics

An approach to treating a severe congenital myopathy

The diagnosis is rare, but devastating—children with congenital muscle disorders often never learn to walk. Until now, there was no chance of recovery, but researchers at the University of Basel and University Hospital ...

Genetics

Overactive enzyme causes hereditary hypertension

A Turkish family from a village near the Black Sea caught the attention of medical researchers in the early 1970s, when a physician discovered that many members of this large family had both unusually short fingers and astronomically ...

Medications

Effectiveness of a new bladder cancer treatment demonstrated

Researchers from the Molecular Cancer group at the Hospital del Mar Medical Research Institute (IMIM) and doctors from Hospital del Mar, have demonstrated the effectiveness of a drug for treating metastatic bladder cancer ...

Oncology & Cancer

Synonymous genetic alterations: Not 'silent' at all

The so-called "silent" or "synonymous" genetic alterations do not result in altered proteins. But they can nevertheless influence numerous functions of the cell and thus also disease processes. Scientists from the German ...

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