According to a report from PTI, GNB1 encephalopathy is a neurological disorder that occurs in a person when they are in their mother’s womb, that is, during the fetal stage.
Speaking of the first symptoms of this disease, the delay in physical and mental development, intellectual disability, frequent epileptic seizures are included in the first symptoms. It is detected by genome sequencing, which is an expensive procedure, which is why many parents do not follow the treatment.
According to the report, Haritha Reddy, a former PhD fellow at IIT Madras, said the disease is caused by the ‘Gβ1 protein’, which is formed due to a mutation in the GNB1 gene. This mutation affects the fetus. Children born with the GNB1 mutation experience mental and physical development delays, epilepsy, etc. To date, fewer than 100 such cases have been identified worldwide. Haritha Reddy believes that the actual number of children affected is higher as there is no cure for the disease.
According to Professor Amal Kanti Bera, Department of Biotechnology, IIT Madras, GNB1 encephalopathy is a rare disease that has not been studied much. She said that we don’t know anything about how this disease can be reduced and how to treat it. Research on the disease is necessary. Developing medicine is not easy and we have a long way to go.
Researchers are currently developing preclinical animal models of the disease. He hopes that in 3 years personalized models of diseases will be developed, which will help in research and drug detection. involved in the investigation
Professor Nathan Daskal of Tel Aviv University believes that gene therapy may be the best option to reduce the effects of the disease when the embryo begins to develop. However, it will take many years and a lot of money to develop. It may also be that a combination of existing drugs can help in treatment.