基本信息
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职业迁徙
个人简介
Research interests
My key research areas:
1) Neurodegeneration: Neurodegenerative diseases result in the progressive damage or death of neurons, leading to a gradual deterioration of the bodily functions controlled by the affected part of the nervous system. My research focus on the three most common causes of neurodegeneration in theelderly, Alzheimer’s disease (AD), Parkinson’s disease (PD) and Frontotemporal dementia (FTD).
2) Gene mutation and early-onset disease. A Mendelian, or single gene disease, is due to a mistake or mutation in one of the 30,000 genes in the genome These genetic mutations are rare but each is sufficient for causing disease on its own. These genes are usually discovered in family studies called linkage studies. In a linkage study, the location of a disease-causing gene is found by finding the best match between the pattern inheritance of disease and location markers in the genome. I am utilising families with heritable forms of dementia to identify novel disease genes.
3) Gene polymorphism and late-onset disease. A genetically complex, or polygenic/multifactorial disease, is caused by a combination of genetic and environmental factors, individually and in interaction with each other. These genetic factors are genetic variations present in the normal population, and each factor tends to increase disease risk by a small amount only. I am examining large cohorts of patients with neurodegenerative diseases to determine how the environment and genes interact to increase disease risk.
4) Epigenome. Heritable changes in gene expression that do not involve coding sequence modifications are referred to as ‘epigenetic’. Whilst research in the epigenetics field has traditionally focused on the field of cancer development, several lines of evidence now suggest that epigenetic changes are important for both neurogenesis and neurodegeneration. Environmental agents have the potential for damaging the developing and mature nervous system, resulting in neurodegenerative diseases. It has been hypothesized that environmental factors can perturb gene regulation by epigenetic modification, leading to altered risk of neurodegenerative diseases. I am examining how a major disease gene, Tau, is regulated by DNA methylation in brain tissue and large cohorts of neurologically healthy and patients with neurodegenerative diseases.
My key research areas:
1) Neurodegeneration: Neurodegenerative diseases result in the progressive damage or death of neurons, leading to a gradual deterioration of the bodily functions controlled by the affected part of the nervous system. My research focus on the three most common causes of neurodegeneration in theelderly, Alzheimer’s disease (AD), Parkinson’s disease (PD) and Frontotemporal dementia (FTD).
2) Gene mutation and early-onset disease. A Mendelian, or single gene disease, is due to a mistake or mutation in one of the 30,000 genes in the genome These genetic mutations are rare but each is sufficient for causing disease on its own. These genes are usually discovered in family studies called linkage studies. In a linkage study, the location of a disease-causing gene is found by finding the best match between the pattern inheritance of disease and location markers in the genome. I am utilising families with heritable forms of dementia to identify novel disease genes.
3) Gene polymorphism and late-onset disease. A genetically complex, or polygenic/multifactorial disease, is caused by a combination of genetic and environmental factors, individually and in interaction with each other. These genetic factors are genetic variations present in the normal population, and each factor tends to increase disease risk by a small amount only. I am examining large cohorts of patients with neurodegenerative diseases to determine how the environment and genes interact to increase disease risk.
4) Epigenome. Heritable changes in gene expression that do not involve coding sequence modifications are referred to as ‘epigenetic’. Whilst research in the epigenetics field has traditionally focused on the field of cancer development, several lines of evidence now suggest that epigenetic changes are important for both neurogenesis and neurodegeneration. Environmental agents have the potential for damaging the developing and mature nervous system, resulting in neurodegenerative diseases. It has been hypothesized that environmental factors can perturb gene regulation by epigenetic modification, leading to altered risk of neurodegenerative diseases. I am examining how a major disease gene, Tau, is regulated by DNA methylation in brain tissue and large cohorts of neurologically healthy and patients with neurodegenerative diseases.
研究兴趣
论文共 259 篇作者统计合作学者相似作者
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Cyril Pottier,Fahri Küçükali,Matt Baker,Anthony Batzler,Gregory D Jenkins,Marka van Blitterswijk,Cristina T Vicente,Wouter De Coster,Sarah Wynants, Pieter Van de Walle,Owen A Ross,Melissa E Murray,Júlia Faura,Stephen J Haggarty,Jeroen Gj van Rooij,Merel O Mol,Ging-Yuek R Hsiung,Caroline Graff,Linn Öijerstedt,Manuela Neumann,Yan Asmann,Shannon K McDonnell,Saurabh Baheti,Keith A Josephs,Jennifer L Whitwell,Kevin F Bieniek,Leah Forsberg,Hilary Heuer,Argentina Lario Lago,Ethan G Geier,Jennifer S Yokoyama, Alexis P Oddi,Margaret Flanagan,Qinwen Mao,John R Hodges,John B Kwok,Kimiko Domoto-Reilly,Matthis Synofzik,Carlo Wilke,Chiadi Onyike,Bradford C Dickerson,Bret M Evers,Brittany N Dugger,David G Munoz,Julia Keith,Lorne Zinman,Ekaterina Rogaeva,EunRan Suh,Tamar Gefen,Changiz Geula,Sandra Weintraub,Janine Diehl-Schmid,Martin R Farlow,Dieter Edbauer,Bryan K Woodruff,Richard J Caselli, Laura L Donker Kaat,Edward D Huey,Eric M Reiman,Simon Mead,Andrew King,Sigrun Roeber,Alissa L Nana,Nilufer Ertekin-Taner,David S Knopman,Ronald C Petersen,Leonard Petrucelli,Ryan J Uitti,Zbigniew K Wszolek,Eliana Marisa Ramos,Lea T Grinberg,Maria Luisa Gorno Tempini,Howard J Rosen,Salvatore Spina,Olivier Piguet,Murray Grossman,John Q Trojanowski,Dirk C Keene,Jin Lee-Way,Johannes Prudlo,Daniel H Geschwind,Robert A Rissman,Carlos Cruchaga,Bernardino Ghetti,Glenda M Halliday,Thomas G Beach,Geidy E Serrano,Thomas Arzberger,Jochen Herms,Adam L Boxer,Lawrence S Honig,Jean P Vonsattel,Oscar L Lopez,Julia Kofler,Charles L White,Marla Gearing,Jonathan Glass,Jonathan D Rohrer,David J Irwin,Edward B Lee,Vivianna Van Deerlin,Rudolph Castellani,Marsel M Mesulam,Maria C Tartaglia,Elizabeth C Finger,Claire Troakes,Safa Al-Sarraj,Bruce L Miller,Harro Seelaar,Neill R Graff-Radford,Bradley F Boeve,Ian Ra Mackenzie,John C van Swieten,William W Seeley,Kristel Sleegers,Dennis W Dickson,Joanna M Biernacka,Rosa Rademakers
medRxiv the preprint server for health sciences (2024)
Methods in molecular biologypp.411-433, (2024)
Yahaira Naaldijk,Belen Fernandez,Rachel Fasiczka,Elena Fdez,Coline Leghay,Ioana Croitoru,John B. Kwok,Yanisse Boulesnane,Amelie Vizeneux,Eugenie Mutez,Camille Calvez,Alain Destee,Jean-Marc Taymans,Ana Vinagre Aragon,Alberto Bergareche Yarza,Shalini Padmanabhan,Mario Delgado,Roy N. Alcalay,Zac Chatterton,Nicolas Dzamko,Glenda Halliday,Javier Ruiz-Martinez,Marie-Christine Chartier-Harlin,Sabine Hilfiker
NPJ PARKINSONS DISEASEno. 1 (2024)
Rui Qi,Esther Sammler,Claudia P. Gonzalez-Hunt, Ivana Barraza, Nicholas Pena,Jeremy P. Rouanet,Yahaira Naaldijk,Steven Goodson,Marie Fuzzati,Fabio Blandini,Kirk I. Erickson,Andrea M. Weinstein,Michael W. Lutz,John B. Kwok,Glenda M. Halliday,Nicolas Dzamko,Shalini Padmanabhan,Roy N. Alcalay,Cheryl Waters,Penelope Hogarth,Tanya Simuni,Danielle Smith,Connie Marras,Francesca Tonelli,Dario R. Alessi,Andrew B. West,Sruti Shiva,Sabine Hilfiker,Laurie H. Sanders
Yuri L. Sosero,Karl Heilbron,Pierre Fontanillas,Lucy Norcliffe-Kaufmann,Eric Yu,Uladzislau Rudakou,Jennifer A. Ruskey,Kathryn Freeman,Farnaz Asayesh,Kajsa Brolin,Maria Swanberg,Huw R Morris,Lesley Wu,Raquel Real,Lasse Pihlstrøm,Manuela Tan,Thomas Gasser,Kathrin Brockmann,Hui Liu, Michele T.M. Hu,Donald G. Grosset,Simon J.G. Lewis,John B. Kwok,Pau Pastor,Ignacio Alvarez,Matej Skorvanek,Alexandra Lackova,Miriam Ostrozovicova,Mie Rizig,2andMe Research Team, The International Parkinson’s Disease Genomics Consortium,Lynne Krohn,Ziv Gan-Or
medrxiv(2023)
Lyndal Henden,Liam G. Fearnley,Natalie Grima,Emily P. McCann,Carol Dobson-Stone,Lauren Fitzpatrick,Kathryn Friend,Lynne Hobson,Sandrine Chan Moi Fat,Dominic B. Rowe,Susan D'Silva,John B. Kwok,Glenda M. Halliday,Matthew C. Kiernan,Srestha Mazumder,Hannah C. Timmins,Margaret Zoing,Roger Pamphlett,Lorel Adams,Melanie Bahlo,Ian P. Blair,Kelly L. Williams
Science advancesno. 18 (2023)
Rebecca R. Valentino,William Scotton,Shanu F. Roemer,Tammaryn Lashley,Michael G. Heckman,Maryam Shoai,Alejandro Martínez-Carrasco,Nicole Tamvaka,Ronald L. Walton,Matthew Baker,Hannah Macpherson,Raquel Real,Alexandra I. Soto-Beasley,Kin Y. Mok,Tamás Révész,Thomas T. Warner,Zane Jaunmuktane,Bradley F. Boeve,Elizabeth Christopher,Michael DeTure,Ranjan Duara,Neill R. Graff‐Radford,Keith A. Josephs,David S. Knopman,Shunsuke Koga,Melissa E. Murray,Kelly Lyons,Rajesh Pahwa,Joseph E. Parisi,Ronald C. Petersen,Jennifer L. Whitwell,Lea T. Grinberg,Bruce L. Miller, Athena Schlereth,William W. Seeley,Salvatore Spina,Murray Grossman,David J. Irwin,Edward B. Lee,EunRan Suh,John Q. Trojanowski,Vivianna M. Van Deerlin,David A. Wolk,Theresa R. Connors,Patrick M. Dooley,Matthew P. Frosch,Derek H. Oakley,Ibán Aldecoa,Mircea Balasa,Ellen Gelpí,Sergi Borrego‐Écija, Rosa Maria de Eugenio Huelamo,Jordi Gascón‐Bayarri,Joaquı́n Castilla, P Sanz-Cartagena,Gerard Piñol‐Ripoll,Laura Molina‐Porcel,Eileen H. Bigio,Margaret E. Flanagan,Tamar Gefen,Emily Rogalskı,Sandra Weıntraub,Javier Redding‐Ochoa,Koping Chang,Juan C. Troncoso,Stefan Prokop,Kathy L. Newell,Bernardino Ghetti,Matthew Jones,Anna Richardson,Andrew C Robinson,Federico Roncaroli,Julie S. Snowden,Kieren Allinson,Oliver Green,James B. Rowe, Rajesh Singh,Thomas G. Beach,Geidy E. Serrano,Xena E Flowers,James E. Goldman, Allison Heaps,Sandra Leskinen,Andrew F. Teich,Sandra E. Black,Julia Keith,Mario Masellis,István Bódi, Andrew King,Safa-Al Sarraj,Claire Troakes,Glenda M. Halliday,John R. Hodges,Jillian J. Kril,John B. Kwok,Olivier Piguet,Marla Gearing,Thomas Arzberger,Sigrun Roeber,Johannes Attems,Christopher M. Morris,Alan Thomas, B. Mark Evers,Charles L. White, Naguib Mechawar,Anne Sieben,Patrick Cras,Bart De Vil,Peter Paul De Deyn,Charles Duyckaerts,Isabelle Le Ber, Danielle Seihean, Sabrina Turbant-Leclere,Ian R. Mackenzie,Catriona McLean,Matthew D. Cykowski,John F. Ervin,Shih-Hsiu Wang,Caroline Graff,Inger Nennesmo,Rashed M. Nagra, James R. Riehl,Gábor G. Kovács, Giorgio Giaccone,Benedetta Nacmias,Manuela Neumann,Lee-Cyn Ang,Elizabeth Finger,Cornelis Blauwendraat,Mike A. Nalls,Andrew B. Singleton,Dan Vitale,Cristina Cunha,Agostinho Carvalho,Zbigniew K. Wszołek,Huw R. Morris,Rosa Rademakers,John Hardy,Dennis W. Dickson,Jonathan D. Rohrer,Owen A. Ross
medRxiv (Cold Spring Harbor Laboratory) (2023)
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作者统计
#Papers: 257
#Citation: 15451
H-Index: 55
G-Index: 123
Sociability: 8
Diversity: 0
Activity: 1
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