Genotype-phenotype correlations and treatment innovation of neurofibromatosis type 1 (NF1): Current understanding and perspective

• Published in: Chinese medical journal Vol. 137; no. 14; pp. 1639 - 1641
• Main Authors: Zhu, Beiyao, Wang, Wei, Gu, Yihui, Wei, Chengjiang, Wang, Zhichao, Li, Qingfeng
• Format: Journal Article
• Language: English
• Published: China Lippincott Williams & Wilkins Ovid Technologies 20-07-2024; Lippincott Williams & Wilkins; Wolters Kluwer
• Subjects: Brain cancer; Clinical outcomes; Clinical trials; CRISPR; Drug therapy; Gene therapy; Genetic counseling; Genetic disorders; Genotype & phenotype; Innovations; Kinases; Medicine; Mutation; Pediatrics; Proteins; Pulmonary arteries; Reconstructive surgery; Targeted cancer therapy; Tumors
• ISSN: 0366-6999; 2542-5641; 2542-5641
• DOI: 10.1097/CM9.0000000000003203

[11] In phase II, 74% (37/50) of the participants achieved PR, and the overall response rate reached 68%, indicating that there was at least one improvement in the patients’ overall changes, motor function, quality of life, and pain. Continuous technological innovation will develop more efficient transgenic delivery systems and precise gene-editing tools, benefiting NF1 patients while maintaining a focus on both technology and ethics. The impact of variants on functional domains and downstream signaling pathways is yet to be fully elucidated, marking a vital area for future research in the quest to fully understand and combat NF1. [...]research is imperative to guide the development of more effective and safer targeted and gene therapies, thereby improving screening, counseling, monitoring, and intervention strategies for NF1 patients.