Genomics in Rare Diseases: An Overview for the Patient, Family and Non-Specialist Healthcare Professional

References

• PetersenBS, FredrichB, HoeppnerMP, EllinghausD, FrankeA. Opportunities and challenges of whole-genome and -exome sequencing. BMC Genetics.18(1), 14 (2017).
   PubMed Web of Science ®Google Scholar
• PearceC, GoettkeE, HallowellN, McCormackP, FlinterF, McKevittC. Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis. Genetics in Med.21(12), 2667–2675 (2019).
   PubMed Web of Science ®Google Scholar
• Homo_sapiens - Ensembl genome browser 106. www.ensembl.org/Homo_sapiens/Info/Annotation (Accessed 20 07 2023).
   Google Scholar
• GrazioliE, DimauroI, MercatelliN et al.Physical activity in the prevention of human diseases: role of epigenetic modifications. BMC Genomics.18, 802 (2017).
   PubMed Web of Science ®Google Scholar
• BayatA, BayatM, RubboliG, MøllerR. Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy. Genes.12(7), 1051 (2021).
   PubMed Web of Science ®Google Scholar
• HoySM. Nusinersen: A Review in 5q Spinal Muscular Atrophy. CNS Drugs.35(12), 1317–1328 (2021).
   PubMed Web of Science ®Google Scholar
• PhoneMyint SMM, SunLY. L-serine: Neurological Implications and Therapeutic Potential. Biomedicines.11(8), 2117 (2023).
   PubMed Web of Science ®Google Scholar
• RARE-X. RARE-X Study Aims to Help All Rare Disease Patients Be Counted. https://rare-x.org/blog/2022/06/07/rare-x-study-aims-to-help-all-rare-disease-patients-be-counted/ (Accessed 20 07 2023).
   Google Scholar
• D’AngeloCS, HermesA, McMasterCR et al.Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations. Front. Pediatr.8doi: 10.3389/fped.2020.579924 (2020).
   PubMed Web of Science ®Google Scholar
• MarwahaS, KnowlesJW, AshleyEA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Medicine.14(1), 23 (2022).
   PubMed Web of Science ®Google Scholar
• HaendelM, VasilevskyN, UnniD et al.How many rare diseases are there?. Nat Rev Drug Discov.19(2), 77–78 (2022).
   Web of Science ®Google Scholar
• Spotlight on rare diseases. The Lancet Diabetes & Endocrinology.7(2), 75 (2019).
   PubMed Web of Science ®Google Scholar
• SavattJM, MyersSM. Genetic Testing in Neurodevelopmental Disorders. Front. Pediatr., 9 (2021).
   Web of Science ®Google Scholar
• LeeH, ChiC, TsaiC. Diagnostic yield and treatment impact of whole‐genome sequencing in paediatric neurological disorders. Dev. Med. Child Neurol.63(8), 934–938 (2020).
   PubMed Web of Science ®Google Scholar
• MillerDT, AdamMP, AradhyaS, BieseckerLG, BrothmanAR, CarterNP et al.Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies. Am. J. Hum. Genet.86(5), 749–764 (2010).
   PubMed Web of Science ®Google Scholar
• NurkS, KorenS, RhieA et al.The complete sequence of a human genome. Science376(6588), 44–53 (2022).
   PubMed Web of Science ®Google Scholar
• SasaniTA, PedersenBS, GaoZ et al.Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation. eLife.8, e46922 (2019).
   PubMed Web of Science ®Google Scholar
• CoyleAC, YenRW, ElwynG. Interrupted opening statements in clinical encounters: a scoping review. Patient Educ Couns.105(8), 2653–2663 (2022).
   PubMed Web of Science ®Google Scholar
• WrightCF, McRaeJF, ClaytonS et al.Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. Genet Med.20(10), 1216–1223 (2018).
   PubMed Web of Science ®Google Scholar
• RichardsS, AzizN, BaleS et al.Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med.17(5), 405–424 (2015).
   PubMed Web of Science ®Google Scholar
• PollardS, WeymannD, DunneJ, MayanlooF, BuckellJ, BuchananJ et al.Toward the diagnosis of rare childhood genetic diseases: what do parents value most?. Eur. J. Hum. Genet.29(10), 1491–1501 (2021).
   PubMed Web of Science ®Google Scholar
• KaufmannP, PariserAR, AustinC. From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research. Orphanet. J. Rare Dis.13(1), 196 (2018).
   PubMedGoogle Scholar
• GahlWA, Wong-RiegerD, HivertV, YangR, ZanelloG, GroftS. Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group. Orphanet. J. Rare Dis.16(1), 308 (2021).
   PubMed Web of Science ®Google Scholar
• TambuyzerE, VandendriesscheB, AustinCP, BrooksPJ, LarssonK, MillerNeedleman KI et al.Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nat. Rev. Drug Discov.19(2), 93–111 (2020).
   PubMed Web of Science ®Google Scholar
• McDermottH, Sherlaw-SturrockC, BaptistaJ, Hartles-SpencerL, NaikS. Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: a retrospective regional evaluation. Eur. J. Med. Genet.65(9), 104571 (2022).
   PubMed Web of Science ®Google Scholar
• SandersonK. High-profile autism genetics project paused amid backlash. [news article] Naturewww.nature.com/articles/d41586-021-02602-7 (Accessed 20 07 2023).
   Web of Science ®Google Scholar
• HastingsWard J, MiddletonR, McCormickD et al.Research participants: critical friends, agents for change. Eur. J. Hum. Genet.30(12), 1309–1313 (2022).
   PubMed Web of Science ®Google Scholar
• Simons Searchlight. www.simonssearchlight.org/about/community-advisory-committee/ (Accessed 09 11 2023).
   Google Scholar
• WatsonA. UK RARE EPILEPSIES TOGETHER [Internet]. UK Rare Epilepsies Together. (2023). http://ukret.co.uk (Accessed 20 07 2023).
   Google Scholar
• Genetic Alliance. https://geneticalliance.org.uk (Accessed 09 11 2023).
   Google Scholar
• Gene People. https://genepeople.org.uk (Accessed 09 11 2023).
   Google Scholar
• Rare Chromosome Disorder Support Group. https://rarechromo.org (Accessed 09 11 2023).
   Google Scholar
• SWAN. www.undiagnosed.org.uk (Accessed 09 11 2023).
   Google Scholar
• CarbonariG, TontiG, DiPisa V, FranzoniE, CordelliDM. Pediatric epilepsies misdiagnosed as gastrointestinal disorders. Epilepsy Behav.83, 137–139 (2018).
   PubMed Web of Science ®Google Scholar