docExpert reviewers for Orphanet in 2015
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Expert reviewers for Orphanet in 2015
2015 Expert reviewers for Orphanet in 2015 www.orpha.net METHODOLOGY This document provides the list of Orphanet Expert reviewers having contributed updating the scientific information contained in the Orphanet database of rare diseases in 2015. Experts were identified through their publications, and their activity related with the given disease/group of diseases (research projects, clinical trials, expert centres and dedicated networks), more information on the expert selection procedure will be available soon on www.orpha.net. Once identified, experts receive an invitation to examine a form containing the scientific information related to a given disease or group of diseases: - Its nomenclature: preferred term and synonyms; - Related genes and the type of relationship between the gene and the diseases, namely: causative genes, modifiers (both from germline or somatic mutations), major susceptibility factors or playing a role in the phenotype (for chromosomal anomalies). When the causative mutations are of germline origin, the functional consequences of the mutations can be documented as a loss or a gain of protein function; - Epidemiological data: point prevalence, - annual incidence, prevalence at birth, lifetime prevalence, number of cases and families reported in the literature; Natural history data: age of onset, age of death, mode of inheritance; An abstract structured in up to 10 sections: Definition of the disease – Epidemiology – Clinical description – Aetiology – Diagnostic methods – Differential diagnosis - Genetic counseling (if relevant) – Antenatal diagnosis (if relevant) – Management – Prognosis The form is pre-filled with the data available in the Orphanet database or coming from a literature search. The expert is invited to validate, to correct or to complete the information submitted to him/her. In some cases, the experts are contacted to answer a specific question (on nomenclature, on genetics or on epidemiological data) in order to update the Orphanet content. Data presentation Experts are listed by alphabetical order of their name and with the expertised disease name and Orphanumber of the disease. Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf 2 List of expert reviewers for Orphanet in 2015 Expert reviewer Dr Michael ABRUZZO Pr Alberto ALBANESE Dr Mathieu ANHEIM Pr Tania ATTIE-BITACH Pr TONY ATTWOOD Dr Laurent BECQUEMONT Pr Soumeya BEKRI Pr Peter BERLIT Pr Regina BETZ Dr Kim BLAKE Dr Catherine BLANCHET Pr Jean-Yves BLAY Pr Ulrike BLUME-PEYTAVI Mr Francesco BONELLA Dr Didier BOUCCARA Pr Maria Luisa BRANDI Dr Jeffrey BROSCO Disease name Abruzzo-Erickson syndrome Adult-onset cervical dystonia, DYT23 type Autosomal dominant focal dystonia, DYT7 type Cervical dystonia Cranio-cervical dystonia with laryngeal and upper-limb involvement Dystonia-aphonia syndrome Laryngeal dyskinesia Limb dystonia Truncal dystonia Spinocerebellar ataxia with axonal neuropathy type 2 Meckel syndrome Asperger syndrome Antidepressant or antipsychotics toxicity or dose selection Azathioprine or 6-mercatopurine toxicity or dose selection Curariform drugs toxicity Methotrexate toxicity or dose selection Oral antidiabetic drugs toxicity or dose selection Phenytoin or carbamazepine toxicity Resistance to vitamin K antagonists Statin toxicity Vitamin K antagonists toxicity or dose selection X-linked sideroblastic anemia and ataxia Sneddon syndrome Woolly hair CHARGE syndrome Usher syndrome Pleomorphic undifferentiated sarcoma Woolly hair Hereditary pulmonary alveolar proteinosis Secondary pulmonary alveolar proteinosis Menière disease Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Histidinemia Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf Orphanumber 921 420492 93963 93962 420485 412217 93961 93957 93956 64753 564 1162 413667 413687 413693 413690 413681 414750 413684 413696 413674 2802 820 170 138 886 293190 170 264675 420259 45360 652 653 247698 247709 2157 3 Expert reviewer Dr Alfredo BRUSCO Ms Teresa BULGER Dr James BURRELL Pr Jean CABANE Pr Jacques CADRANEL Dr Almuth CALIEBE Dr Michael CARR Disease name Adult-onset autosomal dominant leukodystrophy Malignant hyperthermia Corticobasal degeneration Rare autonomic nervous system disorder Primary pulmonary lymphoma Catel-Manzke syndrome Anterior urethral valve Fetal lower urinary tract obstruction Dr Suresh CHANDRAN Isolated agenesis of gallbladder Dr Perrine CHARLES-IGNATIEW Ataxia - oculomotor apraxia type 1 Spinocerebellar ataxia with axonal neuropathy type 2 Dr Maria Roberta CILIO Benign familial neonatal epilepsy Pr Rolando CIMAZ Kawasaki disease Pr Adrian CLARK Familial glucocorticoid deficiency Dr Laurie COHEN Diencephalic syndrome Pr Bernard COMBE Psoriatic arthritis Pr Paul COPPO Acquired thrombotic thrombocytopenic purpura Congenital thrombotic thrombocytopenic purpura Thrombotic thrombocytopenic purpura Pr Valérie CORMIER-DAIRE Desbuquois syndrome Pr Vincent COTTIN Cryptogenic organizing pneumonia Dr Helen CROSS Undetermined early-onset epileptic encephalopathy Pr Piotr CZAUDERNA Hepatoblastoma Dr Annachiara DE SANDRE-GIOVANNOLI Restrictive dermopathy Dr Daniele DE SETA Idiopathic facial palsy Dr Marc D'HOOGHE X-linked sideroblastic anemia and ataxia Dr Federico DI ROCCO Familial esophageal achalasia Idiopathic achalasia Sporadic achalasia Pr Angela DISPENZIERI POEMS syndrome Pr François DOZ Hereditary retinoblastoma Non-hereditary retinoblastoma Retinoblastoma Dr Nicolas DUPIN Kaposi sarcoma Dr Hans DUVEKOT Maternal phenylketonuria Dr David DYMENT SHORT syndrome Pr Malcolm FERGUSON-SMITH Multiple self-healing squamous epithelioma Dr Evelyne FERRARY Menière disease Dr Roseline FROISSART Sialidosis type 1 Dr Toshiyuki FUKAO Beta-ketothiolase deficiency Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf Orphanumber 99027 423 278 423662 2420 1388 435372 435365 440987 1168 64753 1949 2331 361 1672 40050 93585 93583 54057 1425 1302 442835 449 1662 2810 2802 99723 930 99722 2905 357027 357034 790 33276 2209 3163 65748 45360 812 134 4 Expert reviewer Dr Sixto GARCÍA-MIÑAÚR Pr Loïc GARÇON Dr Sidney GOSPE Dr David GOUDIE Dr Philippe GOUPILLE Pr Gilles GRATEAU Pr Gilles GRATEAU Pr Eyal GRUNEBAUM Dr Nathalie GUFFON Pr Loïc GUILLEVIN Mr Claude-Alexandre GUSTAVE Pr Johannes HÄBERLE Pr Christian HAMEL Pr R.C. [Raoul] HENNEKAM Dr A.Micheil INNES Pr Harald JÜPPNER Dr Agnieszka JURECKA Pr Jean KANITAKIS Pr Alexander KATOULIS Disease name Simpson-Golabi-Behmel syndrome Dehydrated hereditary stomatocytosis Pyridoxine-dependent epilepsy Multiple self-healing squamous epithelioma Psoriatic arthritis AA amyloidosis AApoAI amyloidosis AApoAII amyloidosis ABeta2M amyloidosis AFib amyloidosis ATTRV122I amyloidosis ATTRV30M amyloidosis Hereditary amyloidosis with primary renal involement Hereditary ATTR amyloidosis Hereditary cerebral hemorrhage with amyloidosis Primary cutaneous amyloidosis Wild type ATTR amyloidosis Purine nucleoside phosphorylase deficiency Sialidosis type 1 Cutaneous polyarteritis nodosa Primary polyarteritis nodosa Secondary polyarteritis nodosa Single-organ polyarteritis nodosa Systemic polyarteritis nodosa Bacterial toxic-shock syndrome Staphylococcal toxic-shock syndrome Streptococcal toxic-shock syndrome Argininosuccinic aciduria Carbamoyl-phosphate synthetase 1 deficiency Hyperornithinemia-hyperammonemiahomocitrullinuria syndrome Ornithine transcarbamylase deficiency Usher syndrome Temple-Baraitser syndrome SHORT syndrome Caffey disease Adenylosuccinate lyase deficiency Disseminated superficial actinic porokeratosis Porokeratosis of Mibelli Porokeratosis plantaris palmaris et disseminata Syringocystadenoma papilliferum Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf Orphanumber 373 3202 3006 65748 40050 85445 93560 238269 439246 93562 85451 85447 85450 271861 85458 137807 330001 760 812 439729 439737 439746 439755 439762 36234 99919 99918 23 147 415 664 886 420561 3163 1310 46 79152 735 737 840 5 Expert reviewer Dr Maria Ines KAVAMURA Dr Usha KINI Dr Karin KLIJN Pr Isabelle KONE-PAUT Pr Philippe LABRUNE Dr Francois LACOUR-GAYET Dr Pablo LAPUNZINA BADIA Dr Véronique LEBLOND Dr Jean-Christophe LEGA Dr Jules LEROY Pr Thierry LEVADE Dr Aikaterini LIAKOU Pr Gerard LINA Dr Helen LINDEN Pr Lorenzo LO MUZIO Dr Miguel LOPEZ Pr Birgit LORENZ Dr Silvia LOURENÇO Dr Alfredo LUCENDO Dr Henry LYNCH Dr Carl MALCHOFF Dr Víctor MARTÍNEZ-GLEZ Pr Juliette MAZEREEUW-HAUTIER Disease name Cardiofaciocutaneous syndrome Ulnar-mammary syndrome Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism Moyamoya disease Familial cold urticaria Genetic urticaria Muckle-Wells syndrome Fructose-1,6-bisphosphatase deficiency Hereditary fructose intolerance Double outlet right ventricle Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Double outlet right ventricle with doubly committed ventricular septal defect Double outlet right ventricle with subaortic or doubly committed ventricular septal defect Double outlet right ventricle with subaortic ventricular septal defect Taussig-Bing syndrome Simpson-Golabi-Behmel syndrome Waldenström macroglobulinemia Kawasaki disease Mucolipidosis type III alpha/beta Mucolipidosis type III gamma Farber disease Syringocystadenoma papilliferum Bacterial toxic-shock syndrome Staphylococcal toxic-shock syndrome Streptococcal toxic-shock syndrome Ulnar-mammary syndrome Gorlin syndrome Wolfram-like syndrome Leber congenital amaurosis Cheilitis glandularis Proton-pump inhibitor-responsive esophageal eosinophilia Familial atypical multiple mole melanoma syndrome Melanoma-pancreatic cancer syndrome Differentiated thyroid carcinoma Simpson-Golabi-Behmel syndrome Erythrokeratoderma variabilis progressiva Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf Orphanumber 1340 3138 280679 2573 47045 182734 575 348 469 3426 423712 99047 423693 99044 101042 373 33226 2331 423461 423470 333 840 36234 99919 99918 3138 377 411590 65 1221 411696 404560 51013 146 373 308166 6 Expert reviewer Pr Jeffrey MEDIN Dr Maria J MERINO Pr Dan MILEA Dr David MONTANI Dr Karine MORCEL Pr Etienne MORNET Pr Peter S MORTIMER Pr Robert NAVIAUX Pr Giovanni NERI Mr Julián NEVADO BLANCO Pr Patrick NIAUDET Dr Marcello NICO Dr Gen NISHIMURA Dr Virginia NUNES Pr Sylvie ODENT Ms Viveca ODLIND Pr Asher ORNOY Dr Coro PAISAN-RUIZ Dr Johanna PALMIO Disease name Farber disease Familial renal cell carcinoma Hereditary papillary renal cell carcinoma Renal cell carcinoma Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy, classic form Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis Mayer-Rokitansky-Küster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Adult hypophosphatasia Childhood-onset hypophosphatasia Hypophosphatasia Infantile hypophosphatasia Odontohypophosphatasia Perinatal lethal hypophosphatasia Prenatal benign hypophosphatasia Congenital primary lymphedema Late-onset primary lymphedema Non hereditary congenital primary lymphedema Non-hereditary late-onset primary lymphedema Alpers-Huttenlocher syndrome Cardiofaciocutaneous syndrome Simpson-Golabi-Behmel syndrome Juvenile nephropathic cystinosis Nephropathic infantile cystinosis Ocular cystinosis Cheilitis glandularis Autosomal dominant brachyolmia Brachyolmia Brachyolmia type 1, Hobaek type Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Wolfram-like syndrome PDE4D haploinsufficiency syndrome Placental insufficiency Fetal valproate syndrome Hereditary late-onset Parkinson disease Distal myopathy Distal myopathy, Welander type Miyoshi myopathy Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf Orphanumber 333 151 47044 217071 1215 98673 431353 247775 2578 247676 247667 436 247651 247685 247623 247638 2416 289825 79450 90185 726 1340 373 411634 411629 411641 1221 93304 1293 93301 93302 2899 411590 439822 439167 1906 411602 599 603 45448 7 Expert reviewer Dr Nirav PATEL Dr Nikos PATSINAKIDIS Pr Giorgio PERILONGO Dr Véronique PICARD Dr Véronique PINGAULT Dr J.K. [Hans Kristian] PLOOS VAN AMSTEL Dr Neil POLLOCK Pr B.T. [Bwee Tien] POLL-THE Dr Chitra PRASAD Dr Markus PREISING Pr Vincent PROCACCIO Dr Neil RAJAN RareCareNet Disease name Progressive hemifacial atrophy Cutaneous lupus erythematosus Hepatoblastoma Dehydrated hereditary stomatocytosis Tietz syndrome Waardenburg syndrome Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3 Wilson-Turner syndrome Malignant hyperthermia Refsum disease CHARGE syndrome Leber congenital amaurosis Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy, classic form Brooke-Spiegler syndrome Acinar cell carcinoma of pancreas Adenocarcinoma of anal canal Adenocarcinoma of gallbladder and extrahepatic biliary tract Adenocarcinoma of liver and intrahepatic biliary tract Biliary cystadenocarcinoma Carcinoma of anal canal Carcinoma of esophagus, salivary gland type Carcinoma of liver and intrahepatic biliary tract Carcinoma of stomach, salivary gland type Epithelial tumor of anal canal Hereditary gastric cancer Inherited digestive cancer-predisposing syndrome Intraductal papillary mucinous carcinoma of pancreas Mucinous cystadenocarcinoma of pancreas Neuroendocrine tumor of small intestine Osteoclastic giant cell tumor of pancreas Rare carcinoma of small intestine Rare carcinoma of stomach Rare epithelial tumor of colon Rare epithelial tumor of liver and intrahepatic biliary tract Rare epithelial tumor of pancreas Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf Orphanumber 1214 535 449 3202 42665 3440 894 895 896 3459 423 773 138 65 1215 98673 79493 424046 424016 424991 424943 424982 424013 418945 424936 423781 424010 423776 425003 424058 424053 423975 424080 423957 423771 423991 424933 424033 8 Expert reviewer RareCareNet Dr Agnes RENNER Pr Pascal RICHETTE Dr Marlène RIO Dr Henry ROSENBERG Dr R.M.H. [Rudi] ROUMEN Dr Russell SANETO Dr Fernando SANTOS SIMARRO Ms Anja SCHIEMANN Dr Michiel SCHREUDER Dr Jeoffrey SEGURA Dr Claire SHOVLIN Dr Caroline SILVE Pr Tom SOLOMON Dr Nicola SPECCHIO Dr Kathryn STOWELL Dr Jair Antonio TENORIO CASTAÑO Dr Stanislav TOLKACHJOV Dr Megha TOLLEFSON Dr Emilie TOURNIER Dr Anne TRISTAN Disease name Rare epithelial tumor of rectum Rare epithelial tumor of small intestine Rare tumor of small intestine Serous cystadenocarcinoma of pancreas Solid pseudopapillary carcinoma of pancreas Squamous cell carcinoma of anal canal Squamous cell carcinoma of colon Squamous cell carcinoma of gallbladder and extrahepatic biliary tract Squamous cell carcinoma of liver and intrahepatic biliary tract Squamous cell carcinoma of pancreas Squamous cell carcinoma of rectum Squamous cell carcinoma of small intestine Squamous cell carcinoma of stomach Undifferentiated carcinoma of esophagus Undifferentiated carcinoma of liver and intrahepatic biliary tract Undifferentiated carcinoma of stomach Gyrate atrophy of choroid and retina Mild phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate synthetase superactivity 3C syndrome Malignant hyperthermia Anterior cutaneous nerve entrapment syndrome Alpers-Huttenlocher syndrome Simpson-Golabi-Behmel syndrome Malignant hyperthermia Renal agenesis Herpes simplex encephalitis Pulmonary arteriovenous fistula Acrodysostosis Herpes simplex encephalitis Rolandic epilepsy Malignant hyperthermia Simpson-Golabi-Behmel syndrome Progressive hemifacial atrophy Progressive hemifacial atrophy Erythrokeratoderma variabilis progressiva Bacterial toxic-shock syndrome Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf Orphanumber 423998 425368 423793 424073 424065 424019 423994 424996 424975 424039 424002 423968 418959 418951 424970 423786 414 411536 411543 7 423 51890 726 373 423 411709 1930 2038 950 1930 1945 423 373 1214 1214 308166 36234 9 Expert reviewer Dr Anne TRISTAN Dr Marina TRIVISANO Pr Anna TYLKI-SZYMANSKA Pr Bjarne UDD Dr Christelle VAULOUP-FELLOUS Dr Jaime VAZQUEZ-JIMENEZ Pr Alain VERLOES Dr Corinne VIGOUROUX Pr Ronald WANDERS Dr Zbigniew WSZOLEK Dr Andreas ZANKL Dr Abraham ZLOTOGORSKI Disease name Staphylococcal toxic-shock syndrome Streptococcal toxic-shock syndrome Rolandic epilepsy Adenylosuccinate lyase deficiency Distal myopathy Distal myopathy, Welander type Miyoshi myopathy Congenital enterovirus infection Congenital rubella syndrome Cardiac diverticulum ARX-related encephalopathy-brain malformation spectrum Familial partial lipodystrophy Familial partial lipodystrophy, Dunnigan type Refsum disease Dentatorubral pallidoluysian atrophy Multicentric osteolysis-nodulosis-arthropathy spectrum Faisalabad histiocytosis Familial sinus histiocytosis with massive lymphadenopathy H syndrome Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome Orphanet Report Series - Expert Reviewers for Orphanet in 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf Orphanumber 99919 99918 1945 46 599 603 45448 292 290 1686 423655 98306 2348 773 101 371428 254707 254712 168569 254723 10 For any questions or comments, please contact us: [email protected] Editor-in-chief: Ana Rath – Editor of the report: Sylvie Maiella Contributing editors: Natasha Barr, Charlotte Gueydan, Valérie Lanneau, Annie Orly & Charlotte Rodwell The correct form when quoting this document is : «Expert Reviewers for Orphanet in 2015 », Orphanet Report Series, March 2016, http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2015.pdf This Orphanet Report Series is part of the joint action 677024 RD-ACTION which has received funding from the European Union’s Health Programme (2014-2020). The content of this Orphanet Report Series represents the views of the author only and is his/her sole responsibility; it can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.
