Scientists from the Indian Institute of Technology (IIT), Madras, Tel Aviv University and Columbia University are studying a rare genetic brain disease called ‘GNB1 encephalopathy‘ and are trying to develop a drug to effectively treat it. With fewer than 100 documented cases worldwide, GNB1 encephalopathy is a type of brain disease or neurological disorder that affects individuals in the fetal stage.
Delayed physical and mental development, intellectual disability, frequent epileptic seizures are among the early signs of the disease, researchers say, and because genome sequencing is an expensive exercise, few parents will opt for it soon. According to Haritha Reddy, a former PhD student at IIT Madras, the disease is caused by a single nucleotide mutation in the GNB1 gene, which makes one of the G-proteins, the ‘G?1 protein’.
“This mutation affects patients because they are a fetus. Children born with a GNB1 mutation have delayed mental and physical development, epilepsy (abnormal brain activity), movement problems. To date, less than a hundred cases have been documented worldwide.
The actual number of affected children is probably much larger as the diagnosis is not widely available as it requires a sophisticated and expensive procedure,” Reddy told from Israel, where she is conducting research.
“Each cell in the human body has a wide variety of signaling molecules and pathways that help communicate with other cells and within itself. The main signaling mechanism used by cells is ‘G-Protein Coupled Receptor’ (GPCR) signaling,” she added.
