ライフサイエンスコーパス: rare disease

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

2 rld has focused attention on this heretofore rare disease.

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

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

5 the exact location and pathogenesis of this rare disease.

6 new treatment option for patients with this rare disease.

7 atients, which are difficult to achieve in a rare disease.

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

9 hallmarks of myocardial involvement in this rare disease.

10 velopment of more efficient therapy for this rare disease.

11 of new therapies continue to emerge for this rare disease.

12 lomerulonephritis type II) is a prototypical rare disease.

13 his may be a relatively common event in this rare disease.

14 hythmogenic right-ventricular dysplasia is a rare disease.

15 sis caused by Cladophialophora bantiana is a rare disease.

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

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

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

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

20 and genotype-phenotype correlation for this rare disease.

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

22 riation, complementing ongoing GWASs in this rare disease.

23 a substantial part of undiscovered causes of rare diseases.

24 clinical trials, particularly for cancer and rare diseases.

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

26 enter clinical practice for the diagnosis of rare diseases.

27 portance of the complement system in several rare diseases.

28 light on selection of candidate variants for rare diseases.

29 causative genetic variants in children with rare diseases.

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

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

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

33 ans of achieving molecular diagnosis for all rare diseases.

34 e cutaneous phenotype of patients with these rare diseases.

35 erior to, allogeneic HSC transplants in some rare diseases.

36 l diseases account for at least one-fifth of rare diseases.

37 equencing has so far been successful in many rare diseases.

38 m of mutation contributes to both common and rare diseases.

39 ng, tumor type-specific, and not amenable to rare diseases.

40 r disease genes, particularly in the case of rare diseases.

41 eate the genetic component of risk for these rare diseases.

42 oritize compound combinations for testing in rare diseases.

43 vention which can impact the course of these rare diseases.

44 iation studies, can underlie both common and rare diseases.

45 help to elucidate the pathogenesis of these rare diseases.

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

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

48 associated with, and mechanisms underlying, rare diseases.

49 early detection, monitoring or treatment of rare diseases.

50 to determine the efficacy of treatments for rare diseases.

51 onal Huntington Disease Reference Centre for Rare Diseases.

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

53 ses of this heterogeneous group of inherited rare diseases.

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

55 recommendations for approval, especially in rare diseases.

56 transformed gene discovery and diagnosis in rare diseases.

57 hma subphenotypes could meet the criteria of rare diseases.

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

59 Male breast cancer is a rare disease, accounting for less than 1% of all breast

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

61 is that all physicians who are treating this rare disease actively seek appropriate clinical trials f

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

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 ncing experiment that increases the yield of rare disease alleles substantially over random sampling

66 ndustry interest and accelerated research on rare diseases, allowing patients with orphan diseases ac

67 e elucidating the prognostic factors in this rare disease and assist multicentred trials in the evalu

68 IBM is a rare disease and international multicentre collaboration

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

70 to psoriasis is low given that lymphoma is a rare disease and the magnitude of association is modest.

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

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

73 Patients with rare diseases and complex clinical presentations represe

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

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

76 ation in the context of drug development for rare diseases and perhaps more generally for public heal

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

78 the National Institutes of Health Office of Rare Diseases and the National Cancer Institute Division

79 The BHM is an effective method for studying rare diseases and their subtypes, when it is reasonable

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

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

82 ion of genetic modifiers for this relatively rare disease are difficult to study and poorly understoo

83 The factors underlying this rare disease are poorly understood.

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

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

86 Rare diseases are powerful windows into biological proce

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

88 hies, monoclonal protein, skin changes) is a rare disease associated with a plasma cell dyscrasia.

89 recessive atrial dilated cardiomyopathy is a rare disease associated with homozygous mutation of the

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

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

92 art, Lung, and Blood Institute and Office of Rare Diseases at the National Institutes of Health organ

93 ned to promote development of treatments for rare diseases, at least 378 orphan drugs have been appro

94 The rare diseases ataxia-telangiectasia (AT), caused by muta

95 Most mutations in FLCN cause a rare disease, Birt-Hogg-Dube syndrome, characterized by

96 It is a rare disease, but is life threatening when overlooked.

97 iblings, little loss of efficiency occurs to rare disease, but substantial loss of efficiency occurs

98 dribine) changed the natural history of this rare disease by achieving a high rate of complete and du

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

103 Cerebral phaeohyphomycosis is a rare disease caused by dematiaceous (darkly pigmented) f

104 urrent respiratory papillomatosis (RRP) is a rare disease caused by human papillomaviruses (HPVs).

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

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

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

108 Werner syndrome (WS) is a rare disease caused by the lack of a functional nuclear

109 is evident in the neurological phenotypes in rare diseases caused by mutations in mitochondrial genes

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

111 Nondystrophic myotonias (NDMs) are rare diseases caused by mutations in skeletal muscle ion

112 Even for rare diseases caused by rare, highly penetrant mutations

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

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

115 echnologies offer the possibility of finding rare disease-causing mutations and the genes that harbor

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

117 Apart from the rare disease-causing mutations, common genetic variants

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

119 the key future strategy for the discovery of rare, disease-causing sequence variants across the spect

120 arly detection and diagnosis of cancer where rare diseased cells can first be enriched and then captu

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

122 Indolent systemic mastocytosis (ISM) is a rare disease characterized by accumulation of abnormal m

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

124 Fanconi anemia (FA) is a rare disease characterized by congenital defects, progre

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

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

127 Langerhans cell histiocytosis (LCH) is a rare disease characterized by heterogeneous lesions cont

128 sient neonatal diabetes mellitus (TNDM) is a rare disease characterized by intrauterine growth retard

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

130 ve glomerulonephritis type II (MPGN II) is a rare disease characterized by the deposition of abnormal

131 ypical frontotemporal lobar degeneration are rare diseases characterized by ubiquitin-positive inclus

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

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

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

135 of the National Institutes of Health-funded Rare Disease Clinical Research Network.

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

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

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

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

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

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

142 Severe congenital neutropenia (SCN) is a rare disease diagnosed at or soon after birth, character

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

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

145 Like many rare diseases, eosinophilic esophagitis (EoE) is a poorl

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

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

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

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

150 in patients with advanced hereditary MTC, a rare disease for which there has been no effective thera

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

152 ul method for fine-structure localization of rare disease genes, but has not yet been widely applied

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

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

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

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

157 ich approximates the multiplicative risk for rare diseases-have been more widely applied because of i

158 an infrequent exposure (biologic DMARDs) on rare diseases (hematologic malignancies) remains a chall

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

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

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

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

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

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

165 ve Epstein-Barr virus infection (CAEBV) is a rare disease in which previously healthy persons develop

166 Congenital long QT syndrome is a rare disease in which the electrocardiogram QT interval

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

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

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

170 elevance of this mechanism is illustrated by rare diseases in which disrupting the desensitization of

171 ituations: small trials of interventions for rare diseases in which investigators document explicit p

172 asculitis and primary Sjogren's syndrome are rare diseases in which these therapies are being used wi

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

174 nal combination poses an ongoing problem for rare diseases, in particular, for pediatric cancers such

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

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

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

178 al dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of corn

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

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

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

182 the complex components of treatment of these rare diseases is essential to improve survival, accelera

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

184 Liposarcoma, a rare disease, is classified into five histologic subtype

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

186 As rare diseases, it has become recognized that internation

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

188 a in small studies; however, as is common in rare diseases, larger studies of safety and efficacy hav

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

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

191 palsy with progressive scoliosis (HGPPS), a rare disease marked by severe scoliosis.

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

193 t telomere phenotype and a highly penetrant, rare disease model, a linkage scan was performed on a fa

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

195 er of animal models by utilizing unequivocal rare disease mutations and targeted cognitive assessment

196 nts affected by a broad range of complex and rare diseases (N = 173).

197 nd Blood Institute (NHLBI) and the Office of Rare Diseases, National Institutes of Health, Department

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

199 Lymphangioleiomyomatosis (LAM) is a rare disease, occurring in women, characterized by cysti

200 stinal hypoperistalsis syndrome (MMIHS) is a rare disease of childhood that presents early with intes

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

202 oplastic small round cell tumor (DSRCT) is a rare disease of children, adolescents and young adults,

203 Neonatal haemochromatosis is a rare disease of gestation that results in severe fetal l

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

205 Biliary atresia is a rare disease of infancy, which has changed within 30 yea

206 systemic capillary leak syndrome (SCLS) is a rare disease of reversible plasma extravasation and vasc

207 Stiff-Man syndrome (SMS) is a rare disease of the central nervous system (CNS) charact

208 Rasmussen's encephalitis (RE) is a rare disease of the central nervous system characterized

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

210 Acute eosinophilic pneumonia (AEP) is a rare disease of unknown etiology characterized by respir

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

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

213 ins, leading to the perception that they are rare 'diseases' of laboratory cultivation.

214 Act incentivizes medication development for rare diseases, offering substantial financial benefits t

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

216 Occurrence of male breast cancer, a rare disease, peaks at age 71 years.

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

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

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

220 ugh studies that began by investigating this rare disease, recent findings have uncovered the importa

221 Mutations within K17 are responsible for two rare diseases related to ectodermal dysplasias.

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

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

224 acking in standard regression techniques for rare disease research.

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

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

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

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

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

230 s throughout the genome for either common or rare disease risk variants of small or large effect size

231 genetic regions significantly enriched with rare disease-risk variants (DRVs).

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

233 With rare diseases, sampling affecteds and their parents is p

234 al importance in population based studies of rare diseases, somatic mutations in cancer and explainin

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

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

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

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

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

240 The challenges of studying a rare disease such as JDM have been overcome by several c

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

242 These include rare diseases such as autoinflammatory syndromes and urt

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

244 The difficulty in studying rare diseases such as thromboangiitis obliterans is that

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

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

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

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

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

250 l system of cells through the study of these rare diseases than by any other means.

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

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

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

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

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

256 the mutase lead to methylmalonic aciduria, a rare disease that is fatal in the first year of life.

257 tase (MCM) lead to methylmalonyl aciduria, a rare disease that is often fatal in newborns.

258 PCNSV is a rare disease that may result in serious neurological out

259 Cyclic neutropenia is a rare disease that occurs both in humans and gray collie

260 Lymphangioleiomyomatosis (LAM) is a rare disease that occurs primarily in women and has been

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

262 tchinson-Gilford progeria syndrome (HGPS), a rare disease that results in what appears to be prematur

263 Acute exogenous lipoid pneumonia is a very rare disease that typically occurs in fire-eaters and is

264 Although CHS is a rare disease, the Chediak-like family of proteins is pro

265 We show that, for a rare disease, the most efficient design is to study affe

266 In studies of rare diseases, the resolution of linkage mapping is limi

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

268 and frequently outperforms other tests for a rare disease; the power improvement is > 13% in 6 out of

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

270 Brugada syndrome has progressed from being a rare disease to one that is second only to automobile ac

271 Rare diseases typically affect fewer than 200,000 patien

272 optimal design of studies aiming to identify rare disease variants in complex traits.

273 work allows us to quantify the enrichment in rare disease variants in families containing multiple af

274 , we show that it can detect both common and rare disease variants of small effect.

275 expected to hold true for common as well as rare disease variants.

276 an be extremely advantageous for identifying rare disease variants.

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

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

279 andidate genes for mutations associated with rare diseases when a suitable tissue resource is availab

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

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

282 AIP is a rare disease whose recognition and understanding are evo

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

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

287 erosing idiopathic orbital inflammation is a rare disease with an unknown pathogenesis and poor progn

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

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

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

291 Schnitzler syndrome (SchS) is a rare disease with suspected autoinflammatory background

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 Localized PCLPDs are rare diseases with an excellent overall survival and occ

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

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

298 ) and systemic lupus erythematosus (SLE) are rare diseases with unknown causes.

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