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Table 4 Rare disease prevalence in Europe, reference numbers of relevant studies and key objectives of these research papers

From: A scoping review and proposed workflow for multi-omic rare disease research

Rare diseaseEstimated prevalenceOverall study objectives and reference number(s)
Rare cancers
Acute myeloid leukaemia5–8/100,000 [62]• Molecular characterisation of cancers by TCGAa across tissues of origin [43, 60].
• Identification of pathogenic genomic and epigenomic variants [44].
Adrenocortical carcinoma0.7–2/1 million [63]• Identification of pathogenic genomic, epigenomic, proteomic and transcriptomic variants [41, 64].
• Identification of prognostic genomic, epigenomic and transcriptomic biomarkers [65].
• Molecular characterisation of cancers by TCGA across tissues of origin [39, 43].
• Identification of novel therapeutic targets through genomics, transcriptomics and proteomics [66].
Central nervous system cancers7/100,000 [67]• Identification of pathogenic genomic and epigenomic variants [68].
• Molecular characterisation of ENBb [69], ,R-GBMc [70], and IGCTsd [71].
• Molecular characterisation of cancers by TCGA across tissues of origin [43, 60].
Cholangiocarcinoma (Bile duct)2.17/100,000 [72]• Molecular characterisation of cancers by TCGA across tissues of origin [43, 45].
Diffuse large B-cell lymphoma3.8/100,000 [73]• Molecular characterisation of cancers by TCGA across tissues of origin [43].
Rare liver cancer (FL-HCCe)1 in 5 million [74]• Identification of pathogenic genomic and transcriptomic variants [75].
Gastric cancer2.6/100,000• Identification of pathogenic genomic, transcriptomic and epigenomic variants [76, 77].
Gynaecological cancerUSCf/UCSg: 2.57–5/100,000 [78, 79]
SCCOHTh: 300 reported cases
VSCCi: 2.5/100,000 [80]
• Molecular characterisation of cancers by TCGA across tissues of origin (USC/UCS) [43, 52, 53].
• Identification of novel therapeutic targets in SCCOHT through functional multi-omic analysis [42].
• Identification of pathogenic genomic and transcriptomic variants [81].
Mesothelioma0.6–8/100,000 [82]• Molecular characterisation of cancers by TCGA across tissues of origin [43, 46].
Oesophageal cancer4.2/100,000 [83]• Molecular characterisation of cancers by TCGA across tissues of origin [43].
Adrenal nerve tissue (PCCsj and PGLsk)0.4–0.21/100,000 [84]• Molecular characterisation of cancers by TCGA across tissues of origin [48].
Phyllodes breast tumour2.1/1 million [85]• Identification of novel therapeutic targets through multi-omic analysis [86].
Rare urethral cancer (PUCAl)0.31/100,000 [87]• Molecular characterisation using cytopathology, genomics and transcriptomics [88].
Pseudomyxoma peritonei1/1 million [89]• Identification of prognostic biomarkers through genomics and proteomics [90].
Rare prostate cancers
(SCPCm, CRPC-NEn)
Unknown prevalence.• Molecular characterisation of SCPC using genomics and transcriptomics [91].
• Functional study which developed organoids to assess the molecular profile of CRPC-NE [92].
Rare renal cancers (ChRCCo, TLFRCCp)Unknown prevalence.• Molecular characterisation of cancers by TCGA across tissues of origin [43, 55, 93].
Salivary duct carcinoma0.05–2/100,000 [94]• Molecular characterisation of salivary duct carcinoma using proteomics and genomics [95]
Sarcoma0.1–5/100,000 [96]• Molecular characterisation of cancers by TCGA across tissues of origin [43, 49]
• Identification of novel therapeutic targets through multi-omic analysis [97].
• Identification of pathogenic genomic and transcriptomic variants in angiosarcoma [98].
• Identification of prognostic multi-omic biomarkers [99].
Sézary syndrome0.1/100,000 [100]• Identification of novel therapeutic targets through genomic and transcriptomic analysis [101].
Testicular germ cell tumours3.8–6.3/100,000 [102]• Molecular characterisation of cancers by TCGA across tissues of origin [43, 50].
Thymoma and thymic cancers1.3–3.2/1 million [103]• Molecular characterisation of cancers by TCGA across tissues of origin [43, 51].
• Molecular characterisation and comparison between Asian/European thymic cancer profiles [104].
Thyroid cancer2–6/100,000 [105]• Molecular characterisation of cancers by TCGA across tissues of origin [43, 56].
• Identification of pathogenic epigenomic markers of medullary thyroid cancer development [106].
Uveal melanoma5.1/1 million [107]• Molecular characterisation of cancers by TCGA across tissues of origin [43, 54].
Benign or pre-cancerous rare tumours
Rare head and neck cancer (MNTIq)Unknown prevalence• Identification of novel therapeutic targets using genomic and transcriptomic analysis [108].
Juvenile polyposis syndrome1/100,000 [109]• Molecular characterisation of the genomic, transcriptomic and proteomic profile [110].
Non-Cancerous rare diseases
Mevalonate kinase deficiencyUnknown• To explain polarised phenotypic heterogeneity in siblings with the same pathogenic mutation [111].
Triglyceride deposit cardiomyovasculopathyUnknown• Identification of pathogenic transcriptomic and proteomic markers of disease [112].
Monosomy 18p1 / 50,0000 live births [113]• Investigation of the role of monosomy 18p on FSHDr type 2 development [114].
Rare auto-immune conditionsICF1r and IPEXs: 1/100,000 [115]
PIDt: 6/100,000 [116]
• Identification of pathogenic genomic, transcriptomic and epigenomic variants [117,118,119].
Congenital Disorder of Glycosylation<  100 cases reported of each type [120]• Investigation of key genomic and proteomic variants associated with glycosylation disorders [121].
Multi-system developmental disordersTBSu: 1–9/100,000 [122]
Primrose syndrome: 1/100,000 [123]
• Diagnosis of previously undiagnosed rare phenotypes [124].
• Identification of pathogenic genomic and proteomic variants [125].
Congenital absence of the ACLv/PCLw1.7/100,000 live births• Investigation of key genomic and proteomic variants associated with congenital ACL/PCL [126].
Rare neurological diseaseSNSx and Alexander’s disease: unknown
Aconitase deficiency: 1/100,000 [127]
HPEy: 1.31/100,0000 live births [128]
Huntington’s: 7.2/million [129].
• Identification of genomic, proteomic, transcriptomic and metabolomic mutations [38, 130,131,132].
• Diagnosis of mitochondrial aconitase deficiency [58].
• Investigation of therapeutic intervention in animal models of Huntington’s disease [133].
Rare neuro-metabolic diseaseUnknown, undiagnosed phenotypes.• Diagnosis provision using phenomics, genomics and metabolomics [134, 135].
Rare neuro-muscular diseaseUnknown, undiagnosed phenotypes.• Diagnosis provision using genomics, transcriptomics and proteomics [136].
Rare renal disease (PUVz)1/5000–8000 births [137]• Prediction of post-natal prognosis in patients using peptidomics and metabolomics [138].
  1. Abbreviations: TCGAa The Cancer Genome Atlas, ENBb Esthesioneuroblastoma, R-GBMc Rhabdoid glioblastoma, IGCTsd Intracranial germ cell tumours, FL-HCCe Fibrolamellar hepatocellular carcinoma, USCf Uterine serous carcinoma, UCSg uterine carcinosarcoma, SCCOHTh Small cell carcinoma of the ovary hypercalcemic type, VSCCi Vulvar squamous cell carcinoma, PCCsj Pheochromocytomas, PGLsk paragangliomas, PUCAl Primary Urethral Clear-Cell Adenocarcinoma, SPPCm Small cell prostate cancer, CRPC-NEn Castration resistant neuroendocrine prostate cancer, ChRCCo Chromophobe renal cell carcinoma, TLFRCCp Thyroid-like follicular renal cell carcinoma, MNTIq Melanotic neuroectodermal tumour of infancy, FSHDr Facioscapulohumeral muscular dystrophy, ICF1r Immunodeficiency Centromere instability and Facial anomlies syndrome, IPEXs Immune dysregulation polyendocrinopathy enteropathy X-linked, PIDt Primary immunodeficiency disorder, TBSu Townes-Brocks syndrome, ACLv/PCLw anterior/posterior cruciate ligaments, SNSx Snyder-Robinson syndrome, HPEy Holoprosencephaly, PUVz Posterior urethral valves