References

Alessandrini, M., Preynat-Seauve, O., De Bruin, K., & Pepper, M. S. (2019). Stem cell therapy for neurological disorders. South African Medical Journal, 109(8 Supplement 1), S71-S78.

Barkau, C. L., O'Reilly, D., Eddington, S. B., Damha, M. J., & Gagnon, K. T. (2021). Small nucleic acids and the path to the clinic for anti-CRISPR. Biochemical pharmacology, 189, 114492.

Bernuy-Guevara, C., Chehade, H., Muller, Y. D., Vionnet, J., Cachat, F., Guzzo, G., ... & Herrera-Gómez, F. (2020). The inhibition of complement system in formal and emerging indications: results from parallel one-stage pairwise and network meta-analyses of clinical trials and real-life data studies. Biomedicines, 8(9), 355.

Brunetti, B., Muscatello, L. V., Letko, A., Papa, V., Cenacchi, G., Grillini, M., ... & Drögemüller, C. (2020). X-linked duchenne-type muscular dystrophy in jack russell terrier associated with a partial deletion of the canine DMD gene. Genes, 11(10), 1175.

Buss, N. A., Henderson, S. J., McFarlane, M., Shenton, J. M., & De Haan, L. (2012). Monoclonal antibody therapeutics: history and future. Current opinion in pharmacology, 12(5), 615-622.

Chen, J., DU, Y., & HE, J. (2017). Recent advances in treatment of Leber's hereditary optic neuropathy. Recent Advances in Ophthalmology, 684-687.

CHENG, S. Y. (2020). Research progress of enzyme replacement therapy for rare diseases products and their pharmaceutical assessment. Chinese Pharmaceutical Journal, 1128-1132.

Craven, A., Robson, J., Ponte, C., Grayson, P. C., Suppiah, R., Judge, A., ... & Luqmani, R. A. (2013). ACR/EULAR-endorsed study to develop Diagnostic and Classification Criteria for Vasculitis (DCVAS). Clinical and experimental nephrology, 17, 619-621.

Dunbar, C. E., High, K. A., Joung, J. K., Kohn, D. B., Ozawa, K., & Sadelain, M. (2018). Gene therapy comes of age. Science, 359(6372), eaan4672.

Finkel, R. S., Chiriboga, C. A., Vajsar, J., Day, J. W., Montes, J., De Vivo, D. C., ... & Farwell, W. (2021). Treatment of infantile-onset spinal muscular atrophy with nusinersen: Final report of a phase 2, open-label, multicentre, dose-escalation study. The Lancet Child & adolescent health, 5(7), 491-500.

Flaherty, K. T., Infante, J. R., Daud, A., Gonzalez, R., Kefford, R. F., Sosman, J., ... & Weber, J. (2012). Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. New England Journal of Medicine, 367(18), 1694-1703.

Grilo, A. L., & Mantalaris, A. (2019). The increasingly human and profitable monoclonal antibody market. Trends in biotechnology, 37(1), 9-16.

Gui, Y., Li, Q., & Gui, Y. (2020). Application and prospect of gene therapy for rare diseases. J. Clin, 38, 794-798.

Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., ... & Oprea, T. I. (2020). How many rare diseases are there?. Nature reviews drug discovery, 19(2), 77-78.

Hartin, S. N., Means, J. C., Alaimo, J. T., & Younger, S. T. (2020). Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics. Molecular Medicine, 26, 1-7.

Islami, M., & Soleimanifar, F. (2020). A review of evaluating hematopoietic stem cells derived from umbilical cord blood's expansion and homing. Current Stem Cell Research & Therapy, 15(3), 250-262.

Ji, X., Liang, J., & Ji, S. (2019). Research status in treatment of rare diseases. Chin. J. Of Clincal Pharm, 35, 115-118.

Jiang, J., Li, J., & Liu, W. (2011). Current views on rare diseases research and orphan drugs development. Sheng wu Gong Cheng xue bao= Chinese Journal of Biotechnology, 27(5), 724-729.

Kulagin, A., Ptushkin, V., Lukina, E., Gapchenko, E., Markova, O., Zuev, E., & Kudlay, D. (2019). Phase III clinical trial of Elizaria® and Soliris® in adult patients with paroxysmal nocturnal hemoglobinuria: results of comparative analysis of efficacy, safety, and pharmacological data. Blood, 134, 3748.

LI, J. X., DONG, H. W., & HOU, W. (2022). Recent progress of targeted small molecular CDK9 degraders based on PROTAC technology. Acta Pharmaceutica Sinica, 2696-2708.

Li, Z., Li, S., Wei, X., Peng, X., & Zhao, Q. (2020). Recovering the missing regions in crystal structures from the nuclear magnetic resonance measurement data using matrix completion method. Journal of Computational Biology, 27(5), 709-717.

Lim, K. R. Q., Maruyama, R., & Yokota, T. (2017). Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug design, development and therapy, 533-545.

LIU, Q. (2018). Artificial intelligence and drug discovery. Academic Journal of Second Military Medical University, 869-872.

LIU, X. (2019). Current status of orphan drugs in China and comparative analysis with foreign countries. Chinese Pharmaceutical Journal, 839-846.

Long, B., Fong, S., Handyside, B., Robinson, T., Day, J., Yu, H., ... & Gupta, S. (2022). Interim 52-week analysis of immunogenicity to the vector capsid and transgene-expressed human FVIII in GENEr8-1, a phase 3 clinical study of valoctocogene roxaparvovec, an AAV5-mediated gene therapy for hemophilia A. Journal of Hepatology, 77, S540.

Lu, Y., & Han, J. (2022). The definition of rare disease in China and its prospects. Intractable & Rare Diseases Research, 11(1), 29-30.

Mays, R., & Deans, R. (2016). Adult adherent cell therapy for ischemic stroke: clinical results and development experience using MultiStem. Transfusion, 56(4), 6S-8S.

Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., ... & Finkel, R. S. (2018). Nusinersen versus sham control in later-onset spinal muscular atrophy. New England Journal of Medicine, 378(7), 625-635.

Mingozzi, F., & High, K. A. (2013). Immune responses to AAV vectors: overcoming barriers to successful gene therapy. Blood, The Journal of the American Society of Hematology, 122(1), 23-36.

Mitchell, P., Liew, G., Gopinath, B., & Wong, T. Y. (2018). Age-related macular degeneration. The Lancet, 392(10153), 1147-1159.

Nguengang Wakap, S., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., ... & Rath, A. (2020). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics, 28(2), 165-173.

Oprea, T. I., Bauman, J. E., Bologa, C. G., Buranda, T., Chigaev, A., Edwards, B. S., ... & Sklar, L. A. (2011). Drug repurposing from an academic perspective. Drug Discovery Today: Therapeutic Strategies, 8(3-4), 61-69.

Paiva, S. L., & Crews, C. M. (2019). Targeted protein degradation: elements of PROTAC design. Current opinion in chemical biology, 50, 111-119.

Patel, A. N., & Genovese, J. (2011). Potential clinical applications of adult human mesenchymal stem cell (Prochymal®) therapy. Stem Cells and Cloning: Advances and Applications, 61-72.

Rahit, K. T. H., & Tarailo-Graovac, M. (2020). Genetic modifiers and rare mendelian disease. Genes, 11(3), 239.

Schmidt, D., & Thompson, C. (2020). Case studies in rare disease small molecule discovery and development. Bioorganic & Medicinal Chemistry Letters, 30(21), 127462.

Schuessler-Lenz, M., Enzmann, H., & Vamvakas, S. (2020). Regulators' advice can make a difference: European Medicines Agency approval of Zynteglo for beta thalassemia. Clinical pharmacology and therapeutics, 107(3), 492.

Sharma, A., Jacob, A., Tandon, M., & Kumar, D. (2010). Orphan drug: Development trends and strategies. Journal of Pharmacy and Bioallied Sciences, 2(4), 290.

Sleijfer, S., Bogaerts, J., & Siu, L. L. (2013). Designing transformative clinical trials in the cancer genome era. Journal of Clinical Oncology, 31(15), 1834-1841.

South, E., Cox, E., Meader, N., Woolacott, N., & Griffin, S. (2019). Strimvelis® for treating severe combined immunodeficiency caused by adenosine deaminase deficiency: an evidence review group perspective of a NICE highly specialised technology evaluation. PharmacoEconomics-open, 3(2), 151-161.

Stockton, D. W., Kishnani, P., van der Ploeg, A., Llerena, J., Boentert, M., Roberts, M., ... & Berger, K. I. (2020). Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start. Journal of neurology, 267, 3038-3053.

Tambuyzer, E., Vandendriessche, B., Austin, C. P., Brooks, P. J., Larsson, K., Miller Needleman, K. I., ... & Prunotto, M. (2020). Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nature Reviews Drug Discovery, 19(2), 93-111.

Tang, X., Luan, Z., Wu, N., Zhang, B., Jing, Y., Du, H., ... & Xu, S. (2015). Treatment of Gaucher disease with allogeneic hematopoietic stem cell transplantation: report of three cases and review of literatures. Zhonghua er ke za zhi= Chinese Journal of Pediatrics, 53(11), 810-816.

Thiesing, J. T., Ohno-Jones, S., Kolibaba, K. S., & Druker, B. J. (2000). Efficacy of STI571, an Abl tyrosine kinase inhibitor, in conjunction with other antileukemic agents against Bcr-Abl–positive cells. Blood, The Journal of the American Society of Hematology, 96(9), 3195-3199.

Tosolini, A. P., & Sleigh, J. N. (2017). Motor neuron gene therapy: lessons from spinal muscular atrophy for amyotrophic lateral sclerosis. Frontiers in molecular neuroscience, 10, 405.

Tripathi, M. K., Nath, A., Singh, T. P., Ethayathulla, A. S., & Kaur, P. (2021). Evolving scenario of big data and Artificial Intelligence (AI) in drug discovery. Molecular Diversity, 25, 1439-1460.

Wirth, T., Parker, N., & Ylä-Herttuala, S. (2013). History of gene therapy. Gene, 525(2), 162-169.

Yamada, Y. (2021). Nucleic acid drugs—current status, issues, and expectations for exosomes. Cancers, 13(19), 5002.

Yuan, H., Hansen, K. B., Zhang, J., Mark Pierson, T., Markello, T. C., Fajardo, K. V. F., ... & Traynelis, S. F. (2014). Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nature communications, 5(1), 1-12.

Zaher, A., ElSaygh, J., Elsori, D., ElSaygh, H., Sanni, A., Elsaygh, H., & Sanni, A. (2021). A review of Trikafta: triple cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy. Cureus, 13(7).