India, Israel, US Aim To Develop Drug To Treat This Rare Disease: Report
NDTV
With less than 100 documented cases worldwide, GNB1 Encephalopathy is a kind of neurological disorder which affects individuals in the foetus stage.
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.
With less than 100 documented cases worldwide, GNB1 Encephalopathy is a kind of neurological disorder which affects individuals in the foetus stage.
Scientists say 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.
According to Haritha Reddy, a former PhD scholar at IIT Madras, a single nucleotide mutation in the GNB1 gene that makes one of the G-proteins, the "Gβ1 protein," causes this disease.
