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.
Key points
- GNB1 Encephalopathy has less than 100 documented cases worldwide.
- It is a kind of neurological disorder, which affects individuals in the foetus stage.
- As per scientists, delayed physical and mental development, intellectual disabilities, frequent epileptic seizures, are among the early symptoms of the disease and since genome-sequencing is an expensive procedure, not many parents opt for it early on.
- A single nucleotide mutation in the GNB1 gene that makes one of the G-proteins, the ‘Gß1 protein,’ causes this disease.
- This mutation affects the patient since they are a foetus.
- Children born with GNB1 mutation experience mental and physical developmental delay, epilepsy, movement problems. To date, less than a hundred cases have been documented worldwide.
