ライフサイエンスコーパス: rare disease

1 tandard for deep phenotyping in the field of rare disease.

2 heckpoint therapy should be explored in this rare disease.

3 r evaluated as a therapeutic option for this rare disease.

4 Renal arteriovenous malformation (RAVM) is a rare disease.

5 lts in the United States, mCNV seems to be a rare disease.

6 tion of a large number of patients with this rare disease.

7 s and/or shorter study windows in this fatal rare disease.

8 Administration as a breakthrough drug for a rare disease.

9 and genotype-phenotype correlation for this rare disease.

10 tter, a web tool for monogenic assessment of rare disease.

11 riation, complementing ongoing GWASs in this rare disease.

12 wn primary (SCCUP) of the head and neck is a rare disease.

13 rld has focused attention on this heretofore rare disease.

14 iopathic retroperitoneal fibrosis (RPF) is a rare disease.

15 search, little is currently known about this rare disease.

16 the exact location and pathogenesis of this rare disease.

17 new treatment option for patients with this rare disease.

18 d clinical readiness tools for this emerging rare disease.

19 nge to understanding genetic associations in rare disease.

20 ing is infeasible because of its status as a rare disease.

21 uggests potential treatment options for this rare disease.

22 g clinical data to improve patient care in a rare disease.

23 inal data on thousands of patients with this rare disease.

24 nces scientific knowledge and treatments for rare diseases.

25 sage have been implicated in both common and rare diseases.

26 variants in the context of sudden death and rare diseases.

27 a substantial part of undiscovered causes of rare diseases.

28 light on selection of candidate variants for rare diseases.

29 power of gene discovery for both common and rare diseases.

30 ans of achieving molecular diagnosis for all rare diseases.

31 ing data from 6,586 individuals with diverse rare diseases.

32 associated with, and mechanisms underlying, rare diseases.

33 early detection, monitoring or treatment of rare diseases.

34 to determine the efficacy of treatments for rare diseases.

35 onal Huntington Disease Reference Centre for Rare Diseases.

36 key process of cells, and defects cause many rare diseases.

37 ses of this heterogeneous group of inherited rare diseases.

38 of genome-sequenced and HPO-coded cases with rare diseases.

39 recommendations for approval, especially in rare diseases.

40 transformed gene discovery and diagnosis in rare diseases.

41 hma subphenotypes could meet the criteria of rare diseases.

42 clinical trials, particularly for cancer and rare diseases.

43 p is small, particularly in the subgroups of rare diseases.

44 enter clinical practice for the diagnosis of rare diseases.

45 portance of the complement system in several rare diseases.

46 causative genetic variants in children with rare diseases.

47 t of children and families living with these rare diseases.

48 eful in many studies of diseases, especially rare diseases.

49 for use in medical sequencing and studies of rare diseases.

50 clinical practice and genetic counseling in rare diseases.

51 ants in genes not previously associated with rare diseases.

52 rate the utility of metabolome profiling for rare diseases.

53 dicine approach to discovering therapies for rare diseases.

54 the importance of focusing on treatments for rare diseases.

55 nodeficiencies (PIDs) belong to the group of rare diseases.

56 changed the landscape of genetic testing in rare diseases.

57 s become standard for genomic diagnostics of rare diseases.

58 letion and nonpublication of trials studying rare diseases.

59 Due to the broad spectrum of these extremely rare diseases, a correct diagnosis is frequently a chall

60 affected individuals with monogenic forms of rare diseases, accurate attribution of causality to dete

61 Although overall still a rare disease, adolescent type 2 diabetes now poses major

62 Rare diseases affect as many as 60 million people in the

63 Langerhans cell histiocytosis (LCH) is a rare disease affecting people of any age, with widely va

64 Retinitis pigmentosa is a rare disease, affecting only approximately 100 000 peopl

65 IBM is a rare disease and international multicentre collaboration

66 Because ALS is a rare disease and prevention is not feasible, treatment t

67 standing of the molecular mechanisms of this rare disease and, eventually, to improve the management

68 ticipants to answer research questions about rare diseases and "harmonize" clinical endpoints collect

69 This review focuses on these rare diseases and associated spinal cord abnormalities,

70 icipate in research can overcome barriers in rare diseases and can enable discoveries.

71 Patients with rare diseases and complex clinical presentations represe

72 ataset, we surveyed the genomic landscape of rare diseases and identified an increased frequency of N

73 Used for decades in the management of some rare diseases and now gaining broad currency in cancer c

74 population of individuals with undiagnosed, rare diseases and provide a framework for establishing m

75 was the French National Reference Center for Rare Diseases and the Department of Cardiology, Salpetri

76 to understand the mechanisms underlying all rare diseases and translate these to clinical care.

77 own to be important as etiological agents of rare diseases and valuable models of DNA virus infection

78 in relatively small cohorts of patients with rare diseases and/or without systematic follow-up.

79 for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138

80 an ARSs in diseases including autoimmune and rare diseases, and cancer.

81 WGS is a powerful tool for the diagnosis of rare diseases, and its diagnostic clarity at molecular l

82 QTL) colocalization, fine-mapping, and human rare-disease, animal-model, and osteoarthritis tissue ex

83 we discuss here the technological basis and rare disease applicability of the main therapeutic modal

84 Rare disease applications binarily attribute genetic cha

85 The factors underlying this rare disease are poorly understood.

86 Rare diseases are a major health-care burden worldwide.

87 It has been estimated that 80% of rare diseases are genetic in origin, and thus genome seq

88 Methods advocated for clinical trials in rare diseases are not necessarily applicable in rare can

89 These rare diseases are often the underlying cause of sudden c

90 Rare diseases are powerful windows into biological proce

91 Rare diseases are usually chronically debilitating or ev

92 ps to assure appropriate recruitment in this rare disease, are currently being assessed.

93 Laminopathies are rare diseases associated with mutations in LMNA, which e

94 mber pathogenicity: (i) genes mapping within rare disease-associated CNVs, (ii) genes within de novo

95 thought that case-control studies required a rare disease assumption for valid risk ratio estimation,

96 essary for the validity of the tests: 1) the rare-disease assumption and 2) the no-redundancy assumpt

97 Considered a rare disease, ATTR amyloidosis may be more prevalent tha

98 uencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specifi

99 osition of protein fibrils causes a group of rare diseases called systemic amyloidoses.

100 to illustrate how potential therapeutics for rare diseases can be identified with eRepo-ORP, we discu

101 hining example of the impact that studies of rare diseases can have.

102 ations (DNMs) are increasingly recognized as rare disease causal factors.

103 Fatal familial insomnia is a rare disease caused by a D178N mutation in combination w

104 rent respiratory papillomatosis (JORRP) is a rare disease caused by intrapartum or perinatal transmis

105 Giant axonal neuropathy (GAN) is a rare disease caused by mutations in the GAN gene, which

106 ucopolysaccharidosis type IVA (MPS IVA) is a rare disease caused by mutations in the gene encoding th

107 Hermansky-Pudlak Syndrome (HPS) is a rare disease caused by mutations in the genes coding for

108 Wolfram syndrome is a rare disease caused by mutations in the WFS1 gene leadin

109 AE-C1-INH) is a potentially life-threatening rare disease caused by the decreased activity of C1-INH.

110 Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chl

111 other classes of genetic variation, such as rare disease-causing alleles.

112 ulating small sample volumes without loss of rare disease-causing cells.

113 The identification of rare disease-causing mutations has led to the identifica

114 is demonstrates that imputation can identify rare disease-causing variants with substantive effects o

115 lmonary arterial hypertension (SSc-PAH) is a rare disease characterized by a very dismal response to

116 Mastocytosis is a rare disease characterized by clonal proliferation of ma

117 Lenz-Majewski syndrome (LMS) is a rare disease characterized by complex craniofacial, dent

118 ia, infections, myelokathexis) syndrome is a rare disease characterized by diverse symptoms indicativ

119 us familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of

120 Alkaptonuria (AKU) is a rare disease characterized by high levels of homogentisi

121 AGC1 deficiency is a neuropediatric rare disease characterized by hypomyelination, hypotonia

122 y Sensory and Autonomic Neuropathy type V, a rare disease characterized by impaired nociception, even

123 Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease characterized by oculocutaneous albinism an

124 Kleine-Levin syndrome is a rare disease characterized by recurrent episodes of hype

125 Collagenofibrotic glomerulopathy (CG) is a rare disease characterized by the deposition of collagen

126 From mental health to rare diseases, charitable nonprofits and foundations are

127 s of the Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC) be

128 and data elements provided by the NIH-funded Rare Disease Clinical Research Network.

129 ed with the Inherited Neuropathy Consortium--Rare Diseases Clinical Research Consortium on-line conta

130 rtium of the National Institutes of Health's Rare Diseases Clinical Research Network, which consists

131 sortium of the National Institutes of Health Rare Diseases Clinical Research Network.

132 To improve statistical power in our rare-disease cohort (N = 104 exomes), we utilized extrem

133 enotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phe

134 omedical resource of standardized common and rare disease concepts with stable identifiers organized

135 rough online and electronic mailing lists of rare disease consortiums and foundations.

136 etion would be exercised for LDTs focused on rare diseases (defined as fewer than 4,000 tests, not ca

137 parked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunit

138 NGS-based genetic testing in the context of rare disease diagnosis.

139 uencing has established clinical utility for rare disease diagnosis.

140 GTEx data, ANEVA-DOT can be incorporated in rare disease diagnostic pipelines to use RNA-sequencing

141 Most patients with rare diseases do not receive a molecular diagnosis and t

142 dary to partial telomerase deficiency in the rare disease dyskeratosis congenita) causes tissue patho

143 rapeutic opportunities for the corresponding rare disease, enabling precision medicine for this patie

144 Recognition of this rare disease entity is important as it can be mistaken f

145 the oral health management of patients with rare diseases exhibiting morphologic anomalies are curre

146 patients annually, yet because thousands of rare diseases exist, the cumulative impact is millions o

147 -target read depth of 20X, commonly used for rare disease exome sequencing studies, we predict 5-15%

148 resulting in large numbers of patients with rare diseases exposed to interventions that did not lead

149 n unknown proportion of causal mutations for rare diseases, fall in noncoding regions of the genome.

150 miR therapy is cutaneous T-cell lymphoma, a rare disease featuring malignant CD4(+) T cells that pro

151 st for metabolome profiling is patients with rare disease for which abnormal metabolic signatures may

152 lar lymphocyte Hodgkin lymphoma (NLPHL) is a rare disease for which the optimal therapy is unknown.

153 ochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there i

154 tional collaboration framework for analyzing rare disease genetic data that are distributed across di

155 very, this study demonstrates the utility of rare disease genomic studies to parse gene function in h

156 surprising, particularly in the setting of a rare disease given complex disease processes and an ofte

157 ase 3 (G6PC3)-deficient mouse model and in 2 rare diseases (GSD-Ib and G6PC3 deficiency) led us to re

158 The direct benefit of the study of this rare disease has been the rapid identification of an eff

159 tic ductal adenocarcinoma (PDAC), although a rare disease, has a poor prognosis.

160 In addition, several drugs for rare diseases have been recently approved or are in late

161 s revolutionising diagnosis and treatment of rare diseases, however its application to understanding

162 cell acute lymphoblastic leukemia (ALL) is a rare disease in adults with inferior survival outcomes c

163 Biliary atresia (BA) is a rare disease in infants, with unknown mechanisms of path

164 Pulmonary hypertension (PH) is a rare disease in newborns, infants, and children that is

165 ling-has potential to make cervical cancer a rare disease in the decades to come.

166 tive therapies, HCV infection could become a rare disease in the next 22 years.

167 acular telangiectasia type 2 (MacTel 2) is a rare disease in which abnormalities of the retinal vascu

168 Lymphangioleiomyomatosis (LAM) is a rare disease in which LAM cells and fibroblasts form lun

169 a paradigm for development of treatments for rare diseases in general.

170 replicating genetic association studies for rare diseases in large independent cohorts to identify t

171 rge independent cohorts is a key process for rare diseases in order to qualify prognostic biomarkers

172 adenitis suppurativa is an uncommon, but not rare, disease in the United States that disproportionate

173 al Institute for Health Research BioResource Rare-Diseases, in particular, deploying open-source for

174 apeutic effects have been achieved for other rare diseases, including haemophilia and Duchenne muscul

175 very form of childhood cancer qualifies as a rare disease-including the childhood muscle cancer, rhab

176 opean Commission, Swiss National Foundation, Rare Disease Initiative Zurich.

177 Finally, given that PALF is a rare disease, investigative efforts must include broad m

178 ell large granular lymphocytic leukaemia are rare diseases involving pathogenic cytotoxic CD8+ T cell

179 ic and private drug development programs for rare disease is demonstrated.

180 livery models of oral care in the context of rare diseases is emphasized, including involvement of ca

181 competency in the index procedures for these rare diseases is essential to the future of the professi

182 sing of 'old' drugs to treat both common and rare diseases is increasingly becoming an attractive pro

183 ied extensively, childhood HGG, a relatively rare disease, is less well-characterized.

184 This study exemplifies that, for relatively rare diseases, it is paramount to collect observational

185 apeutic modality for translating advances in rare disease knowledge into potential medicines, known a

186 However, most rare diseases lack effective therapies and are in critic

187 ntrolled trials to investigate survival in a rare disease like pulmonary arterial hypertension has co

188 e patients are likely to do better with even rare diseases like autoimmune hepatitis.

189 r studies on Townes-Brocks Syndrome (TBS), a rare disease linked to abnormal cilia formation in human

190 Keppen-Lubinsky syndrome (KPLBS) is a rare disease mainly characterized by severe developmenta

191 diagnosis offers a promising alternative for rare-disease management.

192 ATEMENT CDKL5 deficiency disorder (CDD) is a rare disease marked by autistic-like behaviors, intellec

193 result in CDKL5 deficiency disorder (CDD), a rare disease marked by early-life seizures, autistic beh

194 de association studies (GWAS), especially on rare diseases, may necessitate exchange of sensitive gen

195 A report on the 11th Genomics of Rare Disease meeting held at the Wellcome Genome Campus,

196 ltiple outcomes can make risk prediction for rare diseases more effective.

197 There are more than 7000 described rare diseases, most lacking specific treatment.

198 ticipants enrolled in the NIHR BioResource - Rare Diseases (NBR) study, of which 1,148 were recruited

199 is of nephrogenic systemic fibrosis (NSF), a rare disease occurring after administration of gadoliniu

200 Alport syndrome (AS), a rare disease of basement membrane type IV collagen, impa

201 Polyarteritis nodosa (PAN) is a rare disease of childhood.

202 ary hyperoxaluria type 1 (PH1), an inherited rare disease of glyoxylate metabolism, arises from mutat

203 urrent Respiratory Papillomatosis (RRP) is a rare disease of the aerodigestive tract caused by the Hu

204 aff's brainstem encephalitis (BBE) is a very rare disease of the central nervous system.

205 Cronkhite-Canada syndrome is a rare disease of unknown etiology and the optimal treatme

206 of pulmonary arterial hypertension (PAH), a rare disease of vascular occlusion that leads to high bl

207 RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies.

208 philic gastrointestinal diseases (EGIDs) are rare diseases of the gastrointestinal tract caused by al

209 that could shed light on the pathogenesis of rare diseases of the optic disc.

210 ches are yielding exciting new medicines for rare diseases of unmet need.

211 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 20

212 ties by diverse groups such as international rare disease organizations, registries, clinical labs, b

213 evalence (93% accuracy for common vs 85% for rare diseases; P = .26).

214 hey may be well suited for working with real rare disease patient datasets.

215 When applying genomic medicine to a rare disease patient, the primary goal is to identify on

216 However, prioritization of variants in rare disease patients remains a challenging task due to

217 , the detection of aberrant splicing in many rare disease patients suggests that identifying RNA spli

218 ant step toward the genetic understanding of rare diseases, paving the way to clinical knowledge and

219 egradation of SLC25A46, which manifests as a rare disease, pontocerebellar hypoplasia.

220 However, THSD7A-associated MN is a rare disease, preventing the use of patient antibodies f

221 ing prolidase activity lead in humans to the rare disease prolidase deficiency characterized by sever

222 As myelofibrosis is an extremely rare disease, randomized clinical trials specifically in

223 Conclusions These analyses show that, in a rare disease, real-world observational data can compleme

224 Although considered a rare disease, recent studies have reported an increased

225 akthroughs in discerning the origins of many rare diseases require methods able to identify more comp

226 Recent advances in rare disease research are accelerated by the work of con

227 current fly studies with other large genomic rare disease research efforts such as the Centers for Me

228 workflow is achievable within a large-scale rare disease research study to allow feedback of potenti

229 er researchers and organizations invested in rare disease research to develop a means of achieving mo

230 acking in standard regression techniques for rare disease research.

231 The International Rare Diseases Research Consortium (IRDiRC) was establish

232 ) performed, as part of the NIHR-BioResource Rare Diseases research study.

233 gy and Infectious Diseases and the Office of Rare Diseases Research, National Center for Advancing Tr

234 Median arcuate ligament (MAL) syndrome is a rare disease resulting from compression of the celiac ax

235 cally and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular tran

236 on approach designed to localize significant rare disease-risk variants clusters within a region of i

237 RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories.

238 t a significant increase in the incidence of rare diseases specific to the field.

239 solute risk stratification (particularly for rare diseases), specific analytic methods, and how actio

240 Most rare diseases still lack approved treatments despite maj

241 mily-based association test employed in many rare disease studies.

242 evelopmental Disorders project, a trio-based rare disease study, and detected six validated events, a

243 al Institutes of Health Research BioResource-Rare Diseases Study.

244 nal Institute of Health Research BioResource-Rare Diseases study.

245 lomerulopathies (C3Gs) include a spectrum of rare diseases such as atypical hemolytic uremic syndrome

246 These include rare diseases such as autoinflammatory syndromes and urt

247 Here we consider that the study of rare diseases such as HLRCC, combining analyses of human

248 g topics in the development of therapies for rare diseases, such as approval statistics, engagement o

249 armaceutical industry to invest in the ultra-rare diseases, such as childhood cancers, have encourage

250 e made in the discovery of genetic causes of rare diseases, such as ectodermal dysplasias, orofacial

251 commended for use in multicenter studies for rare diseases, such as pemphigus vulgaris.

252 ity to harmless light, occurs genetically in rare diseases, such as porphyrias, and in photodynamic t

253 nes the application of HDAC(6) inhibitors in rare diseases, such as Rett syndrome, inherited retinal

254 ntifying genes with variants responsible for rare diseases summarize phenotypes with unstructured bin

255 rove clinical decision making for common and rare diseases.Supplemental material is available for thi

256 al genetic association studies to search for rare disease susceptibility alleles.

257 olymphoid hyperplasia with eosinophilia is a rare disease that can affect the ocular adnexal tissue.

258 l intrahepatic cholestasis type 3 (PFIC3), a rare disease that can be lethal in the absence of liver

259 common cause of DOPA-responsive dystonia, a rare disease that classically presents in childhood with

260 cratic drug-induced liver injury (DILI) is a rare disease that develops independently of drug dose, r

261 Galactosemia is a rare disease that is diagnosed through the identificatio

262 Chronic disseminated candidiasis (CDC) is a rare disease that mostly occurs after chemotherapy-induc

263 Short bowel syndrome (SBS) is a rare disease that results from extensive resection of th

264 Autoimmune inner ear disease (AIED) is a rare disease that results in progressive sensorineural h

265 tify the causative mutations for 16 distinct rare diseases that are largely clinically intractable.

266 is caused by molecularly different and often rare diseases that occur from birth to old age.Objective

267 ill be valuable for the genetic diagnosis of rare diseases, the analysis of rare variant burden in co

268 the Transnational European Research Grant on Rare Diseases, the Societe Francophone du Diabete-Associ

269 of economic models for commercialization of rare disease therapies.

270 strengths and limitations as a platform for rare disease therapy development and describe clinical p

271 r, for Duchenne muscular dystrophy and other rare diseases, these requirements are not always in plac

272 g disease mechanisms, therapeutics and using rare disease to understand common diseases.

273 We analyzed 659 rare disease trials accounting for 70,305 enrolled patie

274 to ensure that participation of patients in rare disease trials advances scientific knowledge and tr

275 Rare diseases typically affect fewer than 200,000 patien

276 fect using repeated measures methodology for rare diseases via the generalised estimating equation mo

277 o estimation, but it was later realized that rare disease was not necessary.

278 erage our understanding of common as well as rare diseases, we have developed a knowledge-based appro

279 , over half of clinical trials initiated for rare diseases were either discontinued or not published

280 50 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutatio

281 at it can identify multiple loci involved in rare diseases, while correctly inferring the modes of in

282 mans, genetic mutations in NRs are causes of rare diseases, while hormones and drugs that target NRs

283 ypical hemolytic uremic syndrome (aHUS) is a rare disease with a high recurrence rate after kidney tr

284 Lipodystrophy (LD) is a rare disease with a paucity of subcutaneous adipocytes a

285 Pediatric eosinophilic colitis (EC) is a rare disease with a prevalence of ~1/63,000 individuals,

286 Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis.

287 Langerhans cell histiocytosis (LCH) is a rare disease with an unknown etiology characterized by h

288 uable tool for identifying risk alleles in a rare disease with complex genetics.

289 Mucormycosis is a difficult to diagnose rare disease with high morbidity and mortality.

290 ividuals with Adams-Oliver syndrome (AOS), a rare disease with major features of aplasia cutis of the

291 Infective endocarditis (IE) is a rare disease with poor prognosis.

292 Hemorrhagic Retinal Vasculitis (AMHRV) is a rare disease with unknown incidence that presents with a

293 Autoimmune liver diseases (AILD) are rare diseases with a reported prevalence of less than 50

294 Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per

295 e defects have been identified, resulting in rare diseases with features of both autoimmunity and imm

296 e warranted to improve outcomes across these rare diseases with few evidence-based treatment options.

297 cally and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness

298 Laminopathies are a diverse group of rare diseases with various pathologies in different tiss

299 ngle disease entity but rather a spectrum of rare diseases with varying clinical, histological, and l

300 It is a rare disease, with an estimated prevalence that varied w