ReviewMolecular diagnosis & therapy2019
Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases.
Review in Molecular diagnosis & therapy, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics.Frontiers in public health · 2025Pooled it
- The future of pediatric gene therapy: CRISPR-Cas9, AI, and personalized medicine.Pediatric research · 2026Review
- CRISPR Genome Editing in Personalized Therapy for Oral and Maxillofacial Diseases: A Scoping Review.Biomedicines · 2025Review
- A versatile CRISPR/Cas9 system off-target prediction tool using language model.Communications biology · 2025Article
- Review
- Context base editing for splice correction of IVSI-110 β-thalassemia.Molecular therapy. Nucleic acids · 2024Article
- Rare genetic disorders in India: Current status, challenges, and CRISPR-based therapy.Journal of biosciences · 2024Review
- New Synthetic Isoxazole Derivatives Acting as Potent Inducers of Fetal Hemoglobin in Erythroid Precursor Cells Isolated from β-Thalassemic Patients.Molecules (Basel, Switzerland) · 2023Article
- CRISPR/Cas9 Landscape: Current State and Future Perspectives.International journal of molecular sciences · 2023Review
- Efficient repair of human genetic defect by CRISPR/Cas9-mediated interlocus gene conversion.Life medicine · 2023Article
- The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders.Cureus · 2023Review
- Obtaining the best igRNAs for bystander-less correction of all ABE-reversible pathogenic SNVs using high-throughput screening.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Combined approaches for increasing fetal hemoglobin (HbF) andFrontiers in genome editing · 2023Review
- Automated high-throughput genome editing platform with an AI learning in situ prediction model.Nature communications · 2022Article
- CRISPR-Based Tools for Fighting Rare Diseases.Life (Basel, Switzerland) · 2022Review
- Article
- Catching Them Early: Framework Parameters and Progress for Prenatal and Childhood Application of Advanced Therapies.Pharmaceutics · 2022Review
- Zebrafish Syndromic Albinism Models as Tools for Understanding and Treating Pigment Cell Disease in Humans.Cancers · 2022Review
- Genome editing for primary immunodeficiencies: A therapeutic perspective on Wiskott-Aldrich syndrome.Frontiers in immunology · 2022Review
- Applications and challenges of CRISPR-Cas gene-editing to disease treatment in clinics.Precision clinical medicine · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases pose a global challenge, in that their collective impact on health systems is considerable, whereas their individually rare occurrence impedes research and development of efficient therapies. In consequence, patients and their families are often unable to find an expert for their affliction, let alone a cure. The tide is turning as pharmaceutical companies embrace gene therapy development and as serviceable tools for the repair of primary mutations separate the ability to create cures from underlying disease expertise. Whereas gene therapy by gene addition took decades to reach the clinic by incremental disease-specific refinements of vectors and methods, gene therapy by genome editing in its basic form merely requires certainty about the causative mutation. Suddenly we move from concept to trial in 3 years instead of 30: therapy development in the fast lane, with all the positive and negative implications of the phrase. Since their first application to eukaryotic cells in 2013, the proliferation and refinement in particular of tools based on clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) prokaryotic RNA-guided nucleases has prompted a landslide of therapy-development studies for rare diseases. An estimated thousands of orphan diseases are up for adoption, and legislative, entrepreneurial, and research initiatives may finally conspire to find many of them a good home. Here we summarize the most significant recent achievements and remaining hurdles in the application of CRISPR/Cas technology to rare diseases and take a glimpse at the exciting road ahead.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.