ArticleCold Spring Harbor molecular case studies2022
Personalized medicine for rare neurogenetic disorders: can we make it happen?
Article in Cold Spring Harbor molecular case studies, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 16 citations in OpenAlex.
- Rare Genetic Diseases with Founder Effect in Roma Children.Life (Basel, Switzerland) · 2026Article
- What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study.Journal of intellectual disability research : JIDR · 2026Article
- Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis.Orphanet journal of rare diseases · 2026Review
- Case Report: Epidermal growth factor receptor germline variant associated with epilepsy and rare, distinctive cerebral MRI abnormalities.Frontiers in radiology · 2026Article
- Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study.Journal of neurodevelopmental disorders · 2025Article
- Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review.Journal of neurodevelopmental disorders · 2025Article
- Overcoming Challenges in Learning Prerequisites for Adaptive Functioning: Tele-Rehabilitation for Young Girls with Rett Syndrome.Journal of personalized medicine · 2025Article
- Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey.Journal of the neurological sciences · 2025Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Advances in hemiplegia rehabilitation: modern therapeutic interventions to enhance activities of daily living.Frontiers in neurology · 2025Review
- Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.Orphanet journal of rare diseases · 2024Review
- Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.Orphanet journal of rare diseases · 2024Review
- PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability.Orphanet journal of rare diseases · 2024Article
- Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.Orphanet journal of rare diseases · 2024Article
- Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort.Human mutation · 2024Article
- Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review.Movement disorders clinical practice · 2023Review
- Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.Therapeutic advances in rare diseaseArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare neurogenetic disorders are collectively common, affecting 3% of the population, and often manifest with complex multiorgan comorbidity. With advances in genetic, -omics, and computational analysis, more children can be diagnosed and at an earlier age. Innovations in translational research facilitate the identification of treatment targets and development of disease-modifying drugs such as gene therapy, nutraceuticals, and drug repurposing. This increasingly allows targeted therapy to prevent the often devastating manifestations of rare neurogenetic disorders. In this perspective, successes in diagnosis, prevention, and treatment are discussed with a focus on inherited disorders of metabolism. Barriers for the identification, development, and implementation of rare disease-specific therapies are discussed. New methodologies, care networks, and collaborative frameworks are proposed to optimize the potential of personalized genomic medicine to decrease morbidity and improve lives of these vulnerable patients.
Indexed as
Identifiers
What OpenQuestion holds
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.