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 disease | Estimated prevalence | Overall study objectives and reference number(s) |
|---|---|---|
Rare cancers | ||
Acute myeloid leukaemia | 5–8/100,000 [62] | • Molecular characterisation of cancers by TCGAa across tissues of origin [43, 60]. • Identification of pathogenic genomic and epigenomic variants [44]. |
Adrenocortical carcinoma | 0.7–2/1 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 cancers | 7/100,000 [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 lymphoma | 3.8/100,000 [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 cancer | 2.6/100,000 | • Identification of pathogenic genomic, transcriptomic and epigenomic variants [76, 77]. |
Gynaecological cancer | USCf/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]. |
Mesothelioma | 0.6–8/100,000 [82] | • Molecular characterisation of cancers by TCGA across tissues of origin [43, 46]. |
Oesophageal cancer | 4.2/100,000 [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 tumour | 2.1/1 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 peritonei | 1/1 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 carcinoma | 0.05–2/100,000 [94] | • Molecular characterisation of salivary duct carcinoma using proteomics and genomics [95] |
Sarcoma | 0.1–5/100,000 [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 syndrome | 0.1/100,000 [100] | • Identification of novel therapeutic targets through genomic and transcriptomic analysis [101]. |
Testicular germ cell tumours | 3.8–6.3/100,000 [102] | • Molecular characterisation of cancers by TCGA across tissues of origin [43, 50]. |
Thymoma and thymic cancers | 1.3–3.2/1 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 cancer | 2–6/100,000 [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 melanoma | 5.1/1 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 syndrome | 1/100,000 [109] | • Molecular characterisation of the genomic, transcriptomic and proteomic profile [110]. |
Non-Cancerous rare diseases | ||
Mevalonate kinase deficiency | Unknown | • To explain polarised phenotypic heterogeneity in siblings with the same pathogenic mutation [111]. |
Triglyceride deposit cardiomyovasculopathy | Unknown | • Identification of pathogenic transcriptomic and proteomic markers of disease [112]. |
Monosomy 18p | 1 / 50,0000 live births [113] | • Investigation of the role of monosomy 18p on FSHDr type 2 development [114]. |
Rare auto-immune conditions | ICF1r 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 disorders | TBSu: 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/PCLw | 1.7/100,000 live births | • Investigation of key genomic and proteomic variants associated with congenital ACL/PCL [126]. |
Rare neurological disease | SNSx 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 disease | Unknown, undiagnosed phenotypes. | • Diagnosis provision using phenomics, genomics and metabolomics [134, 135]. |
Rare neuro-muscular disease | Unknown, 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]. |