ReviewAmerican journal of medical genetics. Part A2017
Drug discovery and development for rare genetic disorders.
Review in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
46 citing papers in PubMed.
- Antibody-oligonucleotide conjugates: an emerging modality for precision RNA therapeutics.Antibody therapeutics · 2026Review
- Transcriptomic data and biomedical literature synergize in finding pharmacologic gene regulators.bioRxiv : the preprint server for biology · 2026Article
- Advances in Cell and Gene Therapy for Rare Disease Treatment.International journal of stem cells · 2025Review
- Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases.Orphanet journal of rare diseases · 2025Article
- Behavioural disorders and sleep problems in Sanfilippo syndrome: overlaps with some other conditions and importance indications.European child & adolescent psychiatry · 2025Review
- Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey.Journal of the neurological sciences · 2025Article
- Restoring adapter protein complex 4 function with small molecules: an in silico approach to spastic paraplegia 50.Protein science : a publication of the Protein Society · 2025Article
- Application of Quantitative Systems Pharmacology Approaches to Support Pediatric Labeling in Rare Diseases.Handbook of experimental pharmacology · 2025Review
- The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap.Nature reviews. Drug discovery · 2025Review
- Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.Journal of inherited metabolic disease · 2025Article
- Development of a novel tool for individual treatment trials in mucopolysaccharidosis.Journal of inherited metabolic disease · 2025Article
- Development of orphan drugs for rare diseases.Clinical and experimental pediatrics · 2024Article
- Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineeredHeliyon · 2024Article
- High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.Nature communications · 2024Article
- A new advanced cellular model of functional cholinergic-like neurons developed by reprogramming the human SH-SY5Y neuroblastoma cell line.Cell death discovery · 2024Article
- Implementation status of pharmacological studies in the development of orphan drugs.Orphanet journal of rare diseases · 2024Article
- Advancements in small molecule drug design: A structural perspective.Drug discovery today · 2023Review
- An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis.Pharmaceutics · 2023Article
- A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring.International journal of molecular sciences · 2023Article
- Translational enhancement by base editing of the Kozak sequence rescues haploinsufficiency.Nucleic acids research · 2022Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Approximately 7,000 rare diseases affect millions of individuals in the United States. Although rare diseases taken together have an enormous impact, there is a significant gap between basic research and clinical interventions. Opportunities now exist to accelerate drug development for the treatment of rare diseases. Disease foundations and research centers worldwide focus on better understanding rare disorders. Here, the state-of-the-art drug discovery strategies for small molecules and biological approaches for orphan diseases are reviewed. Rare diseases are usually genetic diseases; hence, employing pharmacogenetics to develop treatments and using whole genome sequencing to identify the etiologies for such diseases are appropriate strategies to exploit. Beginning with high throughput screening of small molecules, the benefits and challenges of target-based and phenotypic screens are discussed. Explanations and examples of drug repurposing are given; drug repurposing as an approach to quickly move programs to clinical trials is evaluated. Consideration is given to the category of biologics which include gene therapy, recombinant proteins, and autologous transplants. Disease models, including animal models and induced pluripotent stem cells (iPSCs) derived from patients, are surveyed. Finally, the role of biomarkers in drug discovery and development, as well as clinical trials, is elucidated.
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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.