"WORK IN PROGRESS!" - a personal account: DNA day’s essays winners to be announced soon

Sunday, 15 June 2008

DNA day’s essays winners to be announced soon

The first European DNA day (25^th April) was commemorated recently. As one of its initiatives, the ESHG has conducted a pilot contest for short essays among high-school students. The essays should obey to one of the two following themes: (1) “if you were a researcher in human genetics, what would you study and why?” or (2) “how will knowledge in genetics and genomics enable future changes in health and health care in Europe?”.

A total of 118 essays from were received from 8 European countries (Belgium, Bosnia, Greece, Italy, Poland, Portugal, Serbia and Slovenia). The best essays from each country, selected by national representatives, have now been translated into English and will now be selected by a panel of members of the Education Committee of the ESHG for the attribution of a 1^st, 2^nd and 3^rd prizes.

Domenico Coviello, chairman of the ESHG Education Committee was the main responsible for this contest, together with Celia D. DeLozier, liaison with the ASHG. After the success of this year’s pilot, it is hoped that this initiative will be continued next year.

1 comentários:

Anonymous said...: Sou aluna do secundário e enviei o meu ensaio pra esse concurso mas como ainda nao me disseram nada supus que nao tinha ganho. Agora vejo que ainda nem sequer foram anunciados os vencedores.
Obrigada, é impressionante como tive mais informação aqui do que no próprio site.; 20 June 2008 19:37

Post a Comment

Current activities

Jorge Sequeiros is a medical geneticist and a full professor at ICBAS, Univ. Porto, where he teaches medical genetics and clinical genetics to 3rd and 5th year medical students, clinical molecular genetics to biochemistry students, and population genetics to 1st year medical students. He also teaches annually at the Latin-American School of Human and Medical Genetics.

He is the director of UnIGENe, a neurogenetics research unit, and of CGPP, a centre for genetics services (testing lab and counselling clinic) in neurological diseases, all initiated in the last 15 years, at IBMC, Univ. Porto.

He is the president of the Portuguese College of Medical Genetics, at the Portuguese Medical Association and a member of the National Council for Ethics in the Life Sciences; he is also a member of the ethics committees of UP, IBMC and ICBAS.

He is a board member of the ESHG (European Society of Human Genetics) and a member of its PPPC (Public and Professional Policies Committee) . He is the national representative at the steering group on Human Genetics Research Databases, at OECD.

He participates at the Public Health Genetics (unit 3) and is member of the steering group of EuroGentest (Harmonizing Genetic Testing across Europe), an European network of excellence (NoE) of the EU FP6, a member of the European network PHGEN (Public Health Genomics) and an associate of the SAFE network (Special Non-Invasive Advances in Fetal and Neonatal Evaluation Network). He is on the editorial councils of Clinical Genetics and Acta Médica Portuguesa.

He is a member of the scientific councils of the Portuguese Association of Huntington Disease, the Portuguese Association of Inherited Ataxias and the Portuguese Association of Paramyloidosis.

Sellected past activities

He was a member of the ethics committees of SPGH (Portuguese Society of Human Genetics) (of which he was one of the founders and President) and of the Ataxia Research Group (of which was also secretary-general), at the World Federation of Neurology.

He was the national representative at the steering groups on Quality Assurance and Proficiency for Molecular Genetic Testing, Guidelines for Best Practices in Quality Assurance for Molecular Genetic Testing in OECD countries and Pharmacogenetics Initiative, at OECD. He has also been a member of the informal network on genetic testing, at the European Commission, and a contact person for the Programme on Integrated Approaches for Functional Genomics of the ESF (European Science Foundation).

He was an expert at the Panel of Medical Genetics of the ENS (European Neurological Society), a member of the scientific council of the Portuguese Society of Neurology. He was the consultant for the activities of public awareness on the Human Genome of the program Ciência Viva.

He has authored or co-authored more than 300 abstracts and 150 full scientific papers (including three chapters on Machado-Joseph disease or hereditary ataxias in reference books on ataxia and over 100 original articles in refereed international journals); he was also the editor of a multi-authored book on MJD, the contributor for the genetics index of the 25th ed. of Stedman’s Medical Dictionary, and to several encyclopaedias and books in the areas of genetics, neurology and bioethics.

He has supervised or co-supervised more than 20 PhD theses already concluded.

MAIN PUBLICATIONS

In press

101. Ferro A, Castro MJ, Lemos C, Santos M, Sousa A, Pereira-Monteiro J, Sequeiros J, Maciel P. The C677T polymorphism in MTHFR is not associated with migraine in Portugal. Disease Markers 24: 1–7, 2008 (in press)

100. Castro MJ, Stam AH, Lemos C, de Vries B, Vanmolkot KRJ, Barros J, Terwindt GM, Frants RR, Sequeiros J, Ferrari MD, Pereira-Monteiro JM, van den Maagdenberg. First mutation in the voltage-gated NaV1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. Cephalalgia (in press)

Epub ahead of print

99. Lemos C, Castro MJ, Barros J, Sequeiros J, Pereira-Monteiro J, Mendonça D, Sousa A. Familial Clustering of Migraine: Further Evidence From a Portuguese Study. Headache 2008 Jul 1 [Epub ahead of print]

98. Loureiro JL, Miller-Fleming L, Thieleke-Matos C, Magalhães P, Cruz VT, Coutinho P, Sequeiros J, Silveira I. Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. Acta Neurol Scand. 2008 Jul 29. [Epub ahead of print]

97. Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H. Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives. Eur J Hum Genet 2008 May 14 [Epub ahead of print]

96. Seneca S, Morris MA, Patton S, Elles R, Sequeiros J: Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias. Eur J Hum Genet; Feb 27 2008 [Epub ahead of print]

95. Temudo T, Ramos E, Dias K, Barbot C, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Fonseca M, Cabral A, Cabral P, Monteiro JP, Borges L, Gomes R, Santos M, Sequeiros J, Maciel P. Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Mov Disord 2008 May 30 [Epub ahead of print]

94. Temudo T, Rios M, Prior C, Carrilho I, Santos M, Maciel P, Sequeiros J, Fonseca M, Monteiro J, Cabral P, Vieira JP, Ormazabal A, Artuch R. Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment. Brain Dev 2008 Jun 20 [Epub ahead of print]

2008

93. Aymé S, Matthijs G, Soini S; ESHG Working Party on Patenting and Licensing. Patenting and licensing in genetic testing. Eur J Hum Genet 16:405-11, 2008

92. Castro MJ, Nunes B, de Vries B, Lemos C, Vanmolkot KR, van den Heuvel JJ, Temudo T, Barros J, Sequeiros J, Frants RR, Koenderink JB, Pereira-Monteiro JM, van den Maagdenberg AM. Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. Clin Genet. 73:37-43, 2008

91. Javaher P, Kaariainen H, Kristoffersson U, Nippert I, Sequeiros J, Zimmern R, Schmidtke J: EuroGentest: DNA-based testing for heritable disorders in Europe. Community Genet 11:75-120, 2008

90. Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, Sequeiros J, Amorim A. Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. Am J Med Genet (Neuropsychiatr Genet) 147B:439-446, 2008

89. Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H: What is ideal genetic counselling? A survey of current international guidelines. Eur J Hum Genet 16:445-452, 2008

88. Santos C, Wanderley H, Vedolin L, Pena SD, Jardim L, Sequeiros J: Huntington disease-like 2: the first patient with apparent European ancestry. Clin Genet 73:480-485, 2008

87. Soini S, Aymé S, Matthijs G; Public and Professional Policy Committee and Patenting and Licensing Committee. Patenting and licensing in genetic testing: ethical, legal, and social issues. Eur J Hum Genet.16:S10-50, 2008

86. Temudo T, Freitas P, Sequeiros J, Maciel P, Oliveira G: Atypical stereotypies and vocal tics in Rett syndrome: An illustrative case. Mov Disord 23:622-624, 2008

2007

85. Alonso I, Almeida T, Jardim LB, Artigalas O, Saraiva-Pereira ML, Matsuura T, Sequeiros J, Silveira I: ATTCT repeat interruptions in Brazilian patients with SCA10. Am J Hum Genet 81: 843, 2007.

84. Alonso I, Marques JM, Sousa N, Sequeiros J, Olsson IA, Silveira I. Motor and cognitive deficits in the heterozygous leaner mouse, a Ca(v)2.1 voltage-gated Ca(2+) channel mutant. Neurobiol Aging. 2007 May 18. [Epub ahead of print]

83. Castro MJ, Stam AH, Lemos C, Barros J, Gouveia RG, Martins IP, Koenderink JB, Vanmolkot KR, Mendes AP, Frants RR, Ferrari MD, Sequeiros J, Pereira-Monteiro JM, van den Maagdenberg AM: Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. J Hum Genet 52:990-998, 2007.

82. Cecchin CR, Pires AP, Rieder CR, Monte TL, Silveira I, Carvalho T, Saraiva-Pereira ML, Sequeiros J, Jardim LB: Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. Community Genet 10:19-26, 2007.

81. Ferro A, Carvalho AL, Teixeira-Castro A, Almeida C, Tomé RJ, Cortes L, Rodrigues AJ, Logarinho E, Sequeiros J, Macedo-Ribeiro S, Maciel P: NEDD8: a new ataxin-3 interactor. Biochim Biophys Acta 1773:1619-1627, 2007.

80. Lemos, C. Castro, MJ. Alonso, I. Barros, J. Sequeiros, J. Pereira-Monteiro, J. Mendonça, D. Sousa, A. Predictive factors of migraine in a sample of Portuguese families. Eur J Hum Genet 15, Supp 1: P1188, p298, 2007

79. Martins S, Coutinho P, Silveira I, Giunti P, Jardim L, Calafell F, Sequeiros J, Amorim A. Cis and trans factors promoting the CAG intergenerational instability in Machado-Joseph disease: Am J Med Genet B Neuropsychiatr Genet. 2007.

78. Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J: Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Arch Neurol 64:1502-1508, 2007.

77. McGovern MM, Elles R, Beretta I, Somerville MJ, Hoefler G, Keinanen M, Barton D, Carson N, Dequeker E, Brdicka R, Blazkova A, Aymé S, Schnieders B, Muller CR, Dalen V, Martinez AA, Kristoffersson U, Ozguc M, Mueller H, Boone J, Lubin IM, Sequeiros J, Taruscio D, Williamson B, Mainland L, Yoshikura H, Ronchi E: Report of an international survey of molecular genetic testing laboratories. Community Genet 10:123-131, 2007.

76. Paneque M, Lemos C, Escalona K, Prieto L, Reynaldo R, Velázquez M, Quevedo J, Santos N, Almaguer LE, Velázquez L, Sousa A, Fleming M, Sequeiros J: Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba. J Genet Couns 16:469-479, 2007.

75. Paneque HM ,Escalona BK, Prieto AL, Reynaldo AR, Velázquez MM, Chang TV, Santos FN, Almaguer ML, Velázquez PL, Sousa A, Fleming M, Sequeiros J. The First Cuban Predictive Testing Experience For Spinocerebellar Ataxia Type 2: A Psychological Follow-Up One Year Later. Genetic Counseling, Journal of Genetic Counselling. 16 (4):469-479, 2007.

74. Prestes PR, Saraiva-Pereira ML, Silveira I, Sequeiros J, Jardim LB: Machado-Joseph disease enhances genetic fitness: a comparison between affected and unaffected women and between MJD and the general population. Ann Hum Genet 72:57-64, 2007.

73. Rodrigues AJ, Coppola G, Santos C, Costa Mdo C, Ailion M, Sequeiros J, Geschwind DH, Maciel P : Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3. FASEB J 21:1126-1136, 2007.

72. Temudo T, Maciel P, Sequeiros J : Abnormal movements in Rett syndrome are present before the regression period: a case study. Mov Disord 22:2284-2287, 2007.

71. Temudo T, Oliveira P, Santos M, Dias K, Vieira J, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Dias A, Cabral P, Monteiro J, Borges L, Gomes R, Barbosa C, Mira G, Eusébio F, Santos M, Sequeiros J, Maciel P : Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations. Neurology 68:1183-1187, 2007.

2006

70. Rolim L, Zagalo-Cardoso JA, Paúl C, Sequeiros J, Fleming M (2006): The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: development of a new self-response inventory. J Genet Couns 15:375-391

69. Trott A, Jardim LB, Ludwig HT, Saute JA, Artigalás O, Kieling C, Wanderley HY, Rieder CR, Monte TL, Socal M, Alonso I, Ferro A, Carvalho T, do Céu Moreira M, Mendonça P, Ferreirinha F, Silveira I, Sequeiros J, Giugliani R, Saraiva-Pereira ML (2006): Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings. Clin Genet 70:173-176

68. Costa Mdo C, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P (2006): Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. J Hum Genet 51:645-651

67. Martins S, Calafell F, Wong VC, Sequeiros J, Amorim A (2006): A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. Eur J Hum Genet 14:932-940

66. Alonso I, Jardim LB, Artigalas O, Saraiva-Pereira ML, Matsuura T, Ashizawa T, Sequeiros J, Silveira I (2006): Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. Neurology 66:1602-1604

65. Soini S, Ibarreta D, Anastasiadou V, Aymé S, Braga S, Cornel M, Coviello DA, Evers-Kiebooms G, Geraedts J, Gianaroli L, Harper J, Kosztolanyi G, Lundin K, Rodrigues-Cerezo E, Sermon K, Sequeiros J, Tranebjaerg L, Kääriäinen H; ESHG; ESHRE (2006): The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. Eur J Hum Genet 14:588-645

64. Rolim L, Leite A, Lêdo S, Paneque M, Sequeiros J, Fleming M (2006): Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I. Clin Genet 69:297-305

63. Sequeiros J (2006): Corino Andrade (1906-2005): a clinical geneticist before its own time. Clin Genet 69:194-196

62. Costa Mdo C, Magalhães P, Guimarães L, Maciel P, Sequeiros J, Sousa A (2006): The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation. J Hum Genet 51:189-195

2005

61. Lima M, Costa MC, Montiel R, Ferro A, Santos C, Silva C, Bettencourt C, Sousa A, Sequeiros J, Coutinho P, Maciel P (2005): Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal. Hum Hered 60:156-163

60. do Carmo Costa M, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, Sequeiros J, Maciel P (2005): Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics 6:209-215

59. Alonso I, Costa C, Gomes A, Ferro A, Seixas AI, Silva S, Cruz VT, Coutinho P, Sequeiros J, Silveira I (2005): A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. J Hum Genet 50:523-529

58. Martins S, Seixas AI, Magalhães P, Coutinho P, Sequeiros J, Silveira I (2005): Haplotype diversity and somatic instability in normal and expanded SCA8 alleles. Am J Med Genet (Neuropsychiatr Genet) 139:109-114

57. Maciel P, Cruz VT, Constante M, Iniesta I, Costa MC, Gallati S, Sousa N, Sequeiros J, Coutinho P, Santos MM (2005): Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology 65:603-605

2004

56. Miranda CJ, Santos MM, Ohshima K, Tessaro M, Sequeiros J, Pandolfo M (2004): Frataxin overexpressing mice. FEBS Lett 572:281-288

55. Costa MC, Gomes-da-Silva J, Miranda CJ, Sequeiros J, Santos MM, Maciel P (2004): Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene. Genomics 84:361-373

54. Lobato L, Beirão I, Silva M, Fonseca I, Queirós J, Rocha G, Sarmento AM, Sousa A, Sequeiros J (2004): End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. Amyloid 11:27-37

53. Santos M, Costa MC, Edite Rio M, José Sá M, Monteiro M, Valença A, Sá A, Dinis J, Figueiredo J, Bigotte de Almeida L, Valongueiro A, Coelho I, Matamá MT, Pinto-Basto J, Sequeiros J, Maciel P (2004): Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin. Mult Scler 10:153-157

52. Alonso I, Barros J, Tuna A, Seixas A, Coutinho P, Sequeiros J, Silveira I (2004): A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine. Clin Genet 65:70-72

51. Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M (2004): Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 36:225-227

2003

50. Santos M, Pinto-Basto J, Rio ME, Sá MJ, Valença A, Sá A, Dinis J, Figueiredo J, Bigotte de Almeida L, Coelho I, Sawcer S, Setakis E, Compston A, Sequeiros J, Maciel P (2003): A whole genome screen for association with multiple sclerosis in Portuguese patients. J Neuroimmunol 143:112-115

49. Costa Mdo C, Magalhães P, Ferreirinha F, Guimarães L, Januário C, Gaspar I, Loureiro L, Vale J, Garrett C, Regateiro F, Magalhães M, Sousa A, Maciel P, Sequeiros J (2003): Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice. Eur J Hum Genet 11:872-878

48. Martins S, Matamá T, Guimarães L, Vale J, Guimarães J, Ramos L, Coutinho P, Sequeiros J, Silveira I (2003): Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin. Eur J Hum Genet 11:808-811

47. Santos MM, Miranda CJ, Levy JE, Montross LK, Cossée M, Sequeiros J, Andrews N, Koenig M, Pandolfo M (2003): Iron metabolism in mice with partial frataxin deficiency. Cerebellum 2:146-153

46. Alizadeh M, Babron MC, Birebent B, Matsuda F, Quelvennec E, Liblau R, Cournu-Rebeix I, Momigliano-Richiardi P, Sequeiros J, Yaouanq J, Genin E, Vasilescu A, Bougerie H, Trojano M, Martins Silva B, Maciel P, Clerget-Darpoux F, Clanet M, Edan G, Fontaine B, Semana G (2003): Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients. Ann Neurol 54:119-122

45. Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P (2003): Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Arch Neurol 60:610-614

44. Barreirinho S, Ferro A, Santos M, Costa E, Pinto-Basto J, Sousa A, Sequeiros J, Maciel P, Barbot C, Barbot J (2003): Inherited and acquired risk factors and their combined effects in pediatric stroke. Pediatr Neurol 28:134-138

43. Jardim L, Silveira I, Pereira ML, Moreira MC, Mendonça P, Sequeiros J, Giugliani R (2003): Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype. Acta Neurol Scand 107:211-214

42. Monte TL, Rieder CR, Tort AB, Rockenback I, Pereira ML, Silveira I, Ferro A, Sequeiros J, Jardim LB (2003): Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study. Acta Neurol Scand 107:207-210

41. Lobato L, Beirão I, Silva M, Bravo F, Silvestre F, Guimarães S, Sousa A, Noël LH, Sequeiros J (2003): Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Nephrol Dial Transplant 18:532-538

2002

40. Costa MC, Sequeiros J, Maciel P (2002): Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population. J Hum Genet 47:205-207

39. Silveira I, Miranda C, Guimarães L, Moreira MC, Alonso I, Mendonça P, Ferro A, Pinto-Basto J, Coelho J, Ferreirinha F, Poirier J, Parreira E, Vale J, Januário C, Barbot C, Tuna A, Barros J, Koide R, Tsuji S, Holmes SE, Margolis RL, Jardim L, Pandolfo M, Coutinho P, Sequeiros J (2002): Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 59:623-629

38. Miranda CJ, Santos MM, Ohshima K, Smith J, Li L, Bunting M, Cossée M, Koenig M, Sequeiros J, Kaplan J, Pandolfo M (2002): Frataxin knockin mouse. FEBS Lett 512:291-297

2001

37. Maciel P, Costa MC, Ferro A, Rousseau M, Santos CS, Gaspar C, Barros J, Rouleau GA, Coutinho P, Sequeiros J (2001): Improvement in the molecular diagnosis of Machado-Joseph disease. Arch Neurol 58:1821-1827

36. Jardim LB, Silveira I, Pereira ML, Ferro A, Alonso I, do Céu Moreira M, Mendonça P, Ferreirinha F, Sequeiros J, Giugliani R (2001): A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. J Neurol 248:870-876

35. Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R (2001): Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds. Acta Neurol Scand 104:224-231

34. Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Mendonça P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki M, Nagata T, Coutinho P, Sequeiros J, Koenig M (2001): The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 29:189-193

33. Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R (2001): Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. Arch Neurol 58:899-904

32. Saraiva JM, Anionwu E, Belo M, Jenkins T, Kristoffersson U, Marques I, Santos HG, Sequeiros J, Simpson SA, Wertz D, Monteiro C (2001): Issues in human GenEthics. Genet Med 3:218-219

31. Barbot C, Coutinho P, Chorão R, Ferreira C, Barros J, Fineza I, Dias K, Monteiro J, Guimarães A, Mendonça P, do Céu Moreira M, Sequeiros J (2001): Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. Arch Neurol 58:201-205

30. Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonça P, Barros J, Coutinho P, Sequeiros J, Koenig M (2001): Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet 68:501-508

29. Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA (2001): Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. Am J Hum Genet 68:523-528

2000

28. Gaspar C, Jannatipour M, Dion P, Laganière J, Sequeiros J, Brais B, Rouleau GA (2000): CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation. Hum Mol Genet 9:1957-1966

27. Silveira I, Alonso I, Guimarães L, Mendonça P, Santos C, Maciel P, Fidalgo de Matos JM, Costa M, Barbot C, Tuna A, Barros J, Jardim L, Coutinho P, Sequeiros J (2000): High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. Am J Hum Genet 66:830-840

1999

26. Paúl C, Martín I, Silva MR, Silva M, Coutinho P, Sequeiros J (1999): Living with Machado-Joseph disease (MJD) in a small rural community of the Tagus valley. Community Genet 2:190-195

25. Munar-Qués M, Pedrosa JL, Coelho T, Gusmão L, Seruca R, Amorim A, Sequeiros J (1999): Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30. J Med Genet 36:629-632

24. Maciel P, Gaspar C, Guimarães L, Goto J, Lopes-Cendes I, Hayes S, Arvidsson K, Dias A, Sequeiros J, Sousa A, Rouleau GA (1999): Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract. Eur J Hum Genet 7:147-156

23. Moreira MC, Miranda C, Barbot C, Coutinho P, Sequeiros J (1999): Recessive ataxias in Portugal. Arq Med 13:39-45

22. Sequeiros J, Maciel P, Taborda F, Lêdo S, Rocha JC, Lopes A, Reto F, Fortuna AM, Rousseau M, Fleming M, Coutinho P, Rouleau GA, Jorge CS (1998): Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis. Prenat Diagn 18:611-617

1998

21. Silveira I, Coutinho P, Maciel P, Gaspar C, Hayes S, Dias A, Guimarães J, Loureiro L, Sequeiros J, Rouleau GA (1998): Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families. Am J Med Genet 81:134-138

1997

20. Maciel P, Lopes-Cendes I, Kish S, Sequeiros J, Rouleau GA (1997): Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients. Am J Hum Genet 60:993-996

1996

19. DeStefano AL, Cupples LA, Maciel P, Gaspar C, Radvany J, Dawson DM, Sudarsky L, Corwin L, Coutinho P, MacLeod PM, Sequeiros J, Rouleau GA, Farrer LA (1996): Familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet 59:119-127

18. Lopes-Cendes I, Silveira I, Maciel P, Gaspar C, Radvany J, Chitayat D, Babul R, Stewart J, Dolliver M, Robitaille Y, Rouleau GA, Sequeiros J (1996): Limits of clinical assessment in the accurate diagnosis of Machado-Joseph disease. Arch Neurol 53:1168-1174

17. Gaspar C, Lopes-Cendes I, DeStefano AL, Maciel P, Silveira I, Coutinho P, MacLeod P, Sequeiros J, Farrer LA, Rouleau GA (1996): Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. Hum Genet 98:620-624

16. Lopes-Cendes I, Maciel P, Kish S, Gaspar C, Robitaille Y, Clark HB, Koeppen AH, Nance M, Schut L, Silveira I, Coutinho P, Sequeiros J, Rouleau GA (1996): Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann Neurol 40:199-206

15. Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Júnior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA (1996): Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 1996 46:214-218

1995

14. Sousa A, Coelho T, Barros J, Sequeiros J (1995): Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal). Am J Med Genet 60:512-521

13. Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J, Dawson DM, Sudarsky L, Guimarães J, Leal Loureiro JE, Lopes-Cendes I, Rooke K, Rosenberg RN, MacLeod PM, Farrer LA, Sequeiros J, Rouleau GA (1995): Correlation between CAG repeat length and clinical features in Machado-Joseph disease. American Journal of Human Genetics 57:54-61

12. DeStefano AL, Farrer LA, Maciel P, Gaspar C, Rouleau GA, Coutinho P, Sequeiros J (1995): Gender equality in Machado-Joseph disease. Nat Genet. 1995 Oct;11(2):118-9

1990-1994

11. Sequeiros J, Silveira I, Maciel P, Coutinho P, Manaia A, Gaspar C, Burlet P, Loureiro L, Guimarães J, Tanaka H, Takiyama Y, Sakamoto H, Nishizawa M, Nomura Y, Segawa M, Tsuji S, Melki J, Munnich A (1994): Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds. Genomics 21:645-648

10. Silveira I, Manaia A, Melki J, Magariño C, Lunkes A, Hernandez A, Gispert S, Burlet P, Rozet JM, Coutinho P, Loureiro JML, Guimarães J, Auburger G, Munnich A, Sequeiros J (1993): Machado-Joseph disease is genetically different from Holguin's dominant ataxia (SCA2). Genomics 17:556-559

9. Sequeiros J, Coutinho P (1993): Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol 61:139-153

8. Yuasa T, Miyatake T, Ohama E, Coutinho P, Sequeiros J, Leite I, Andrade C (1990): A comparative study of Machado-Joseph disease in Portuguese and Japanese. Shinkei Kenkyu no Shinpo (Adv Neurol Sci, Tokyo) 34:102-112

1980-1989

7. Sequeiros J, Saraiva MJ (1987): Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy-type I (Portuguese, Andrade). Am J Med Genet 27:345-357

6. Suite ND, Sequeiros J, McKhann GM (1986): Machado-Joseph disease in a Sicilian-American family. J Neurogenet 3:177-182

5. Sequeiros J, Suite ND (1986): Spinopontine atrophy disputed as a separate entity: the first description of Machado-Joseph disease. Neurology 36:1408 (lett)

4. Sequeiros J, Sack GH Jr (1985): Infection and prematurity as the cause of linear skin atrophy, alopecia, anonychia, and tongue lesions? Arch Dermatol 121:1379-1380

3. Sequeiros J, Sack GH Jr (1985): Linear skin atrophy, scarring alopecia, anonychia, and tongue lesion: a "new" syndrome? Am J Med Genet 21:669-680

2. Livingstone IR, Sequeiros J (1984): Machado-Joseph disease in an American-Italian family. J Neurogenet 1:185-188

1. Coutinho P, Sequeiros J (1981): Aspects cliniques, génétiques et pathologiques de la maladie de Machado‑Joseph. J Génét Hum 29:203-209

PhD students and theses concluded

· Paula Coutinho: Doença de Machado-Joseph - tentativa de definição, ICBAS, Univ. Porto, 1992 (Grande Prémio BIAL Medicina) (co-supervisor, with Carolina Silva; supervisor: Corino Andrade)

· Isabel Silveira: Mapeamento Cromossómico da Doença de Machado-Joseph e Heterogeneidade Genética das Ataxias Dominantes, ICBAS, Univ. Porto, 1997 (supervisor)

· Patrícia Espinheira de Sá Maciel, tese de doutoramento: Estudos de Genética Molecular da doença de Machado-Joseph - contribuição para a compreensão das bases moleculares da variabilidade fenotípica da doença e da instabilidade mitótica e meiótica da mutação, ICBAS, Univ. Porto, 1998 (supervisor; co-supervisor: Guy Rouleau)

· Claudia Clarkson Gaspar: Molecular Genetics and Cell Biology of Machado-Joseph Disease. ICBAS, 2001 (supervisor; co-supervisor: Guy Rouleau)

· Laura Maria Simões Coutinho Guimarães: Altered Brainsystem Development and Early Postnatal Respiratory Pathology: a mice model for the Sudden Infant Death Syndrome, ICBAS, 2002 (supervisor; co-supervisors: Sieuve Monteiro e Jean Champagnat)

· Jose Ignacio Guinaldo Martín: Psico-sociologia da Doença de Machado-Joseph: estudos sobre doentes e seus cuidadores, ICBAS, 2002 (co-supervisor; supervisor: Constança Paúl)

· Maria do Céu Moreira da Silva: Molecular Genetics of Ataxia with Ocular Apraxia: mapping and cloning the AOA genes. ICBAS, 2003 (supervisor; co-supervisors: Michel Koenig e Paula Coutinho)

· Carlos Jorge Teixeira Miranda: Estudo Genético e Molecular da Ataxia de Friedreich, ICBAS, 2004 (supervisor; co-supervisor: Paula Coutinho)

· Luísa Maria Correia Lopes Lobato: Nefropatia na Polineuropatia Amiloidótica Familiar, Tipo Português, ICBAS, 2004 (supervisor; co-supervisor: Alda Sousa)

· Cláudia Sofia Ferreira e Sousa Lima dos Santos: Genética Molecular da Doença de Machado-Joseph: modelos de estudo em C. elegans, ICBAS, 2004 (co-supervisor; supervisor: Patrícia Maciel)

· Maria de Fátima de Oliveira Ferreirinha: Estudo Genético das Paraparésias Espásticas Hereditárias, ICBAS, 2004 (co-supervisor; supervisor: Isabel Silveira)

· Isabel da Conceição Moreira Pereira Alonso: Genética Molecular e Mecanismo Patogénico nas Ataxias Dominantes, ICBAS (co-supervisor; supervisor: Isabel Silveira)

· Anabela da Conceição Coelho Pinto Ferro: Identificação de Parceiros Moleculares da Ataxina-3/Josephina, ICBAS, (co-supervisor; supervisor: Patrícia Maciel)

· Ângela Maria Teixeira Leite: Aspectos Psicossociais da Aceitação do Teste Preditivo em Doenças Neurogenéticas de Aparecimento Tardio (Doença de Huntington, Doença de Machado-Joseph e Polineuropatia Amiloidótica Familiar), ICBAS, (co-supervisor; supervisor: Constança Paúl)

· Maria Clara Barcelos de Morais Barbot: Ataxias Recessivas de Inicío na Infância, ICBAS, Univ. Porto, 2008 (co-supervisor; supervisor: Paula Coutinho)

· Mónica Joana Pinto dos Santos: Estudo da Patogénese da Síndrome de Rett num Modelo em Ratinho e sua Recuperação por Expressão Pós-natal da Proteína MECP2. ICBAS, Univ. Porto (co-supervisor; supervisor: Patrícia Maciel)

· Sandra Cristina da Silva Martins: Epidemiologia Genética da Doença de Machado-Joseph: Estudo Evolutivo e Comparação com Outras Ataxias. Fac. Ciências, Univ. Porto (co-supervisor; orientador: António Amorim)

· Maria do Carmo Pereira da Costa: Estudo do Homólogo em Mus musculus do Gene da Doença de Machado-Joseph. ESCS, Braga, Univ. Minho (co-supervisor; supervisor: Patrícia Maciel)

· Milena Paneque Herrera: Impacto Psico-social e Familiar do Teste Pré-sintomático em Doenças Neurológicas de Início Tardio (Ataxias Dominantes e Doença de Huntington), ICBAS, Univ. Porto (co-supervisor; supervisor: Manuela Fleming)

· Teresa Temudo: Estudo Epidemiológico e Genético do Síndrome de Rett em Portugal. ICBAS, Univ. Porto (supervisor; co-supervisor: Paula Coutinho)

"WORK IN PROGRESS!" - a personal account

Sunday, 15 June 2008

DNA day’s essays winners to be announced soon

1 comentários:

OTHER LINKS

Blog Archive

Jorge Sequeiros, MD, PhD

Current activities

Sellected past activities

Agenda

CGPP - Centre for Predictive and Preventive Genetics

UnIGENe

CNECV

MAIN PUBLICATIONS

PhD students and theses concluded