‘GNB1 Encephalopathy’ Disease



    • Researchers at the Indian Institute of Technology (IIT), Madras, Tel Aviv University and Columbia University are studying a rare genetic brain disease called “GNB1 Encephalopathy” and trying to develop a drug to treat it effectively.

     GNB1 Encephalopathy

    • GNB1 Encephalopathy is a kind of brain disease or neurological disorder which affects individuals in the foetus stage.
    • A single nucleotide mutation in the GNB1 gene that makes one of the G-proteins, the “Gβ1 protein,” causes this disease. This mutation affects the patient since they are a foetus.
    • Early symptoms of the disease are delayed physical and mental development, intellectual disabilities, frequent epileptic seizures.
    • Less than 100 cases of GNB1 Encephalopathy have been recorded worldwide. However, the actual number of affected children is probably higher since diagnosis for this genetic disorder is not widely available due to the requirement of sophisticated and expensive procedures.

    Source: TH