Practical research on overcoming intractable diseases in Japan by establishing a model for supporting early diagnosis and treatment by expanded newborn screening

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K19638
• Research Category: Grant-in-Aid for Challenging Research (Exploratory)
• Allocation Type: Multi-year Fund
• Review Section: Medium-sized Section 58:Society medicine, nursing, and related fields
• Research Institution: Gifu University
• Principal Investigator: Shimozawa Nobuyuki 岐阜大学, 高等研究院, 特任教授 (00240797)
• Project Period (FY): 2021-07-09 – 2024-03-31
• Keywords: 新生児スクリーニング / 難病診断支援 / 予防医学 / 副腎白質ジストロフィー / 早期診断

Outline of Final Research Achievements

This study aims to introduce disease screening in the neonatal period for hereditary intractable diseases for which curative treatments have been developed and early initiation of treatment is important to improve prognosis. To this end, a regional model was established to accumulate the evidence necessary to expand disease coverage in the region, and a disease model was established to make precise diagnosis available nationwide for screening-positive individuals for specific rare diseases. During the three-year study period, the regional model was disseminated to five prefectures in Japan, and the disease model provided precise diagnosis for more than 100 screening positive cases of adrenoleukodystrophy from all over Japan.

Free Research Field

先天代謝異常症

Academic Significance and Societal Importance of the Research Achievements

本研究により抽出された受検時の説明・同意方法や陽性児や家系内解析における遺伝カウンセリング、同定されたレアバリアントの病原性評価など様々な課題をより広い分野で論理的に評価し、将来的には発症後治療から新生児スクリーニングによる発症予防にパラダイムシフトする必要性を社会に提唱する。その成果は予防医学による難病克服に繋がり、社会的意義は医療経済的効果とともに極めて高いと考えられる。