Patient iPSC-derived brain organoids as a model for cognitive phenotypes of Duchenne muscular dystrophy

• Project/Area Number: 24K18635
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 51030:Pathophysiologic neuroscience-related
• Research Institution: National Center of Neurology and Psychiatry
• Principal Investigator: Sathyaprakash Chaitra 国立研究開発法人国立精神・神経医療研究センター, 神経研究所 遺伝子疾患治療研究部, リサーチフェロー (60916691)
• Project Period (FY): 2024-04-01 – 2027-03-31
• Project Status: Granted (Fiscal Year 2024)
• Budget Amount: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000); Fiscal Year 2026: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000); Fiscal Year 2025: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2024: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
• Keywords: iPSC / Brain organoid / DMD

Outline of Research at the Start

Duchenne muscular dystrophy (DMD) is a genetic disorder affecting boys, exhibiting non-progressive cognitive impairments due to a lack of brain-specific isoforms of dystrophin protein (Fig 1.). The molecular and cellular pathways leading to these disorders remain largely unknown due to differences between rodent model and human brain. To understand the role of dystrophin in the brain, a human iPSC-brain organoid model will be generated from DMD patient urine-derived cells.