Researchers from India, Israel, US trying to develop drug to treat rare disease 'GNB1 Encephalopathy'

GNB1 Encephalopathy is a kind of brain disease or 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 brain disease or 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 exercise, 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.

"This mutation affects the patient since they are a foetus. Children born with GNB1 mutation experience mental and physical developmental delay, epilepsy (abnormal brain activity), movement problems. To date, less than a hundred cases have been documented worldwide. However, the actual number of affected children is probably much greater as diagnosis is not widely available since it requires a sophisticated and expensive procedure," Reddy told PTI from Israel, where she is conducting the research.

"Every cell in the human body has a wide variety of signalling molecules and pathways that help in communicating with other cells and within itself. The major signalling mechanism used by cells is 'G-Protein Coupled Receptor' (GPCR) signalling," she added.

GPCR is a receptor that receives a signal (e.g. a hormone, light, neurotransmitter) from the outside of the cell and transduces it to the inside of the cell.