NCBS develops model system to help Lowe Syndrome patients

BENGALURU: A team of researchers from the National Centre for Biological Sciences (NCBS), Bengaluru, shared details of the development of a model system which helps in designing personalised therapeutics for patients suffering from Lowe Syndrome (LS). Developed for the first time in the country, for patients from suffering from a rare genetic disorder. According to medical experts it affects in 5,00,000 people globally. Its prevalence in India is yet to determined. LS patients present with dysfunction of the brain, eyes and kidneys at birth, thereby having a reduced life expectancy. Some of the commonly observed symptoms of LS include young children developing cataract glaucoma and glaucoma, and renal problems and are often unable to achieve growth and development milestones on time. According to experts, rare genetic disorders are an essential medial problem in India. So far about 450 disorders have been reported in India and around 80 million people in India are affected. The study report-- Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe Syndrome-- was published in Embo Molecular Medicine journal on November 11, 2025. To understand why LS patients suffer neurological defects, Professor Raghu Padinjats lab at NCBS studied a local family affected by the disease. Their blood samples were used to generate human induced pluripotent stem cells (iPSCs). The iPSCs can ideally be used to generate virtually any cell type of the human body. But in this study, they were used to generate nerve cells, which, over time, grew into a ball of cells, referred to as brain organoids. Brain organoids take over three months to grow in the lab, but they have the inherent ability to mimic the architecture and functions of the fetal human brain, the report stated. This feature of the brain organoids makes it extremely useful to peek inside the early biology of the developing human brain, said Yojet Sharma, PhD scholar at NCBS and lead author of the study report. Researchers said that this was done as understanding a developing human brain is difficult as the tissue is inaccessible, which makes it challenging to observe disease progression inside the fetal brain. The teams noted that in case of a normal brain development, neurons first emerge around eight weeks of pregnancy, followed by birth of astrocytes, another cell type found in the brain. The mature neurons develop electrical properties, using which they communicate with their surroundings. But incase of the LS patients, researchers noted that nerve cells were not actively talking to each other in the same timeframe. The number of astrocytes, also was abnormally high. The Centre for Brain and Mind, that was also associated in the study, underscored that these anomalous changes seen in the LS brain cells were linked to phospholipids, which are a specific class of molecules that build and maintain cellular membranes, the paper noted.