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      Paper of the Month

      Research Paper of the Month: Apixaban for Stroke Prevention in Subclinical Atrial Fibrillation

      December 4, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – December 2023

      December 1, 2023

      Brain Health

      Swiss Brain Health Plan launches in Zurich

      November 24, 2023

      EAN News

      EAN 2024 – Abstract submission and registration OPEN!

      November 22, 2023

      Executive Page

      Executive Page: Join or renew your membership now and celebrate 10 years of the EAN

      November 6, 2023

      Executive Page

      Executive Page: Advocacy for brain health gaining momentum across the neurological landscape

      October 1, 2023

      Executive Page Dear EAN members, dear friends, It is my pleasure to give you an update on behalf of the EAN Scientific Committee following a busy year since my appointment as chair. It has been a privilege to be so deeply involved in the scientific activities of the EAN and to work closely with an amazing community of people who are so dedicated to the advancement of neurology. One of the strongest threads within that community is the EAN’s group of Scientific Panels, which are often referred to as the organisation’s ‘scientific backbone’. The panels have a hand in everything the EAN does from a scientific point of view, including coordinating clinical research, disseminating good practice, assisting in planning the EAN annual congress, supporting the EAN’s educational efforts, and producing guidelines that assist neurologists in daily practice. All of this work requires a considerable amount of oversight, and this is why each panel is run by its own Management Group, elected by the panel members. Being a part of one of these Management Groups (PDF) is an opportunity to play a direct part in determining the direction of scientific progress within Europe, and I am excited to say that the call for applications to stand for election will be announced in September. All panel members and EAN individual members are eligible to apply to be candidates, with the vote being held among the existing panel members in autumn. I would like to urge every neurologist with a passion for the scientific future of their special area of interest to consider standing for election to the relevant Management Group and to look out for the call for applications later this month. I can tell you from personal experience that fulfilling a role such as this within the structure of the EAN is a fascinating and extremely rewarding experience. The chance to take on such a unique leadership position should not be missed! The most satisfying aspect of being involved in the EAN’s organisational structure is surely seeing all the hard work and planning come to fruition when a small idea evolves into a newly launched project. One such example is the 1st EAN Science School, taking place in Salzburg next March. The idea of the Science School is to offer early career neurologists with an interest in translational research a new avenue for learning about basic pathomechanisms of neurological disorders. Application for this very first edition, on ‘Pathophysiology of disorders of the nervous system’, closed last week and we have been delighted with the level of interest. It was a pleasure to be part of the task force in charge of planning this new project and I look forward to seeing it officially transferred to the hands of the Scientific Committee after a successful event and evaluation in spring. Of our ongoing activities, one of the most significant is the EAN Neuro-covid Registry, which aims to collate epidemiological data on neurological manifestations in patients with COVID-19 infection reported by neurologists in outpatient services, emergency rooms, and hospital departments. We currently have 1,542 patients entered in the database, from 35 centres across 23 countries. So far, 29 patients have been followed for 12 months and 387 have completed the 6-months follow up. This is a decent start, but I would like to strongly encourage EAN members and their institutions to get involved and contribute cases to what will become an invaluable resource for neurologists and clinicians to improve care for Covid-19 patients. Finally, I would like share a word on a forthcoming collaboration between EAN and the Human Brain Project in December, that I think will interest a lot of EAN members. The EAN-EBRAINS joint workshop on ‘The future of medical data sharing in clinical neurosciences’ will be a three-day virtual event that aims to discuss issues and challenges associated with data sharing in Europe, from ethics to data safety and privacy, including those specific to data federation, such as the development and validation of federated algorithms. The whole workshop is completely free of charge and registration is open until 25 November, so please check out the details and sign up! I wish you all a healthy and pleasant autumn and I look forward to updating you again. Best wishes Thomas Berger Chair of the EAN Scientific Committee

      Executive Page: Management Group elections are coming – run for office and help shape our future!

      September 1, 2023

      Executive Page

      Executive Page: Thank you for making the EAN Congress 2023 a great success!

      July 24, 2023

      EAN News One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – December 2023

      December 1, 2023

      EAN News

      Swiss Brain Health Plan launches in Zurich

      November 24, 2023

      EAN News

      EAN 2024 – Abstract submission and registration OPEN!

      November 22, 2023

      EAN News

      Call for Applications: e-Learning Platform Associate Editors

      November 7, 2023

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      EAN 2024 – Abstract submission and registration OPEN!

      November 22, 2023

      EAN Congress news

      Burden of Sleep/Wake Disorders Project at EAN Congress 2023

      October 19, 2023

      EAN Congress news

      African Academy of Neurology features in Special Studio Session at EAN 2023

      July 25, 2023

      EAN Congress news

      Find photos, facts, figures and reports in our EAN Congress Review

      July 24, 2023

      Interviews

      Video Interview: Prof. Mary Reilly, Moritz Romberg lecturer at EAN 2023

      July 4, 2023

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      Video Interview: Mark Hallett, C. Brown-Séquard lecturer at EAN 2023

      July 3, 2023

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      Video Interview: Josep Dalmau, Camillo Golgi Lecturer at EAN 2023

      July 2, 2023

      Interviews

      Video Interview: Dementia & Cognitive Disorders Panel Co-Chairs

      September 8, 2022

  • Research
    • All Paper of the Month Research Highlights
      Paper of the Month

      Research Paper of the Month: Apixaban for Stroke Prevention in Subclinical Atrial Fibrillation

      December 4, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – December 2023

      December 1, 2023

      Paper of the Month

      Research Paper of the Month: Effects of oral anticoagulation in people with atrial fibrillation after spontaneous intracranial haemorrhage (COCROACH)

      November 6, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – November 2023

      November 6, 2023

      Paper of the Month

      Research Paper of the Month: Apixaban for Stroke Prevention in Subclinical Atrial Fibrillation

      December 4, 2023

      Paper of the Month

      Research Paper of the Month: Effects of oral anticoagulation in people with atrial fibrillation after spontaneous intracranial haemorrhage (COCROACH)

      November 6, 2023

      Paper of the Month

      Research Paper of the Month: Transdermal Nicotine Treatment and Progression of Early Parkinson’s Disease

      October 1, 2023

      Paper of the Month

      Research Paper of the Month: Soluble Nogo-Receptor-Fc decoy (AXER-204) in patients with chronic cervical spinal cord injury in the USA

      September 1, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – December 2023

      December 1, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – November 2023

      November 6, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – October 2023

      October 1, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – September 2023

      September 1, 2023

  • Education
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      End 2023 with highlighted content on the eanCampus!

      December 2, 2023

      Resident and Research Fellows

      EAN Spring School 2024 – Apply NOW until 31 January 2024

      December 1, 2023

      Resident and Research Fellows

      EAN Autumn School 2023: Report

      November 30, 2023

      eLearning

      Call for Applications: e-Learning Platform Associate Editors

      November 7, 2023

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      End 2023 with highlighted content on the eanCampus!

      December 2, 2023

      eLearning

      Call for Applications: e-Learning Platform Associate Editors

      November 7, 2023

      eLearning

      Kick off the new season with highlights on the eanCampus

      October 13, 2023

      eLearning

      World Brain Day with the European Academy of Neurology

      July 21, 2023

      Student Corner

      Student Teaser Fellowship reports 2022 – Pisa, London, & Lausanne

      September 13, 2023

      Student Corner Illustration of a vertical pencil point on a blue background, with a yellow light bulb above it

      Student Corner: My EAN Congress experience

      September 5, 2023

      Student Corner

      Student Teaser Fellowship reports 2022 – Rotterdam, London, & Paris

      August 22, 2023

      Student Corner

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      June 28, 2023

      Resident and Research Fellows

      EAN Spring School 2024 – Apply NOW until 31 January 2024

      December 1, 2023

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      November 30, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Department of Neuromuscular Diseases Institute, University College London

      September 14, 2023

      Fellowship reports

      Student Teaser Fellowship reports 2022 – Pisa, London, & Lausanne

      September 13, 2023

  • Other News
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      December 1, 2023

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      November 7, 2023

      Advocacy

      Brain community launches Call to Action during Brain Health & Research Day at UNGA78

      October 19, 2023

      EAN News

      Brain Innovation Days 2023: Meet the speakers!

      October 2, 2023

      EAN Staff

      EAN Head Office Profiles: Ulla & Piyapat

      December 1, 2023

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      August 28, 2023

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      Celebrating 20 Years of Excellence: Anja Sander, EAN’s Executive Director!

      August 3, 2023

      EBC

      Brain community launches Call to Action during Brain Health & Research Day at UNGA78

      October 19, 2023

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      October 2, 2023

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      July 21, 2023

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      Join the community’s calls for a European Brain Research and Innovation Plan

      July 21, 2023

      News in general

      WHO’s Intersectoral Global Action Plan on epilepsy and other neurological disorders (IGAP) published in all six UN languages

      August 3, 2023

      News in general

      WHO recognises the public health need for effective and affordable treatments for multiple sclerosis

      August 3, 2023

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      Brain Innovation Days: Discover the early programme and register today!

      July 21, 2023

      News in general

      Join the community’s calls for a European Brain Research and Innovation Plan

      July 21, 2023

      Surveys

      Neurorehabilitation Across Europe after Ischemic and Traumatic Brain Injuries: a survey to increase knowledge on brain-injury-specific neurorehabilitation

      July 14, 2023

      Surveys

      ILAE survey on genetic testing in the epilepsies

      July 14, 2023

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      March 3, 2023

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      December 5, 2022

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  • EAN News
    • All Executive Page EAN News EAN Congress news Interviews
      Paper of the Month

      Research Paper of the Month: Apixaban for Stroke Prevention in Subclinical Atrial Fibrillation

      December 4, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – December 2023

      December 1, 2023

      Brain Health

      Swiss Brain Health Plan launches in Zurich

      November 24, 2023

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      November 22, 2023

      Executive Page

      Executive Page: Join or renew your membership now and celebrate 10 years of the EAN

      November 6, 2023

      Executive Page

      Executive Page: Advocacy for brain health gaining momentum across the neurological landscape

      October 1, 2023

      Executive Page Dear EAN members, dear friends, It is my pleasure to give you an update on behalf of the EAN Scientific Committee following a busy year since my appointment as chair. It has been a privilege to be so deeply involved in the scientific activities of the EAN and to work closely with an amazing community of people who are so dedicated to the advancement of neurology. One of the strongest threads within that community is the EAN’s group of Scientific Panels, which are often referred to as the organisation’s ‘scientific backbone’. The panels have a hand in everything the EAN does from a scientific point of view, including coordinating clinical research, disseminating good practice, assisting in planning the EAN annual congress, supporting the EAN’s educational efforts, and producing guidelines that assist neurologists in daily practice. All of this work requires a considerable amount of oversight, and this is why each panel is run by its own Management Group, elected by the panel members. Being a part of one of these Management Groups (PDF) is an opportunity to play a direct part in determining the direction of scientific progress within Europe, and I am excited to say that the call for applications to stand for election will be announced in September. All panel members and EAN individual members are eligible to apply to be candidates, with the vote being held among the existing panel members in autumn. I would like to urge every neurologist with a passion for the scientific future of their special area of interest to consider standing for election to the relevant Management Group and to look out for the call for applications later this month. I can tell you from personal experience that fulfilling a role such as this within the structure of the EAN is a fascinating and extremely rewarding experience. The chance to take on such a unique leadership position should not be missed! The most satisfying aspect of being involved in the EAN’s organisational structure is surely seeing all the hard work and planning come to fruition when a small idea evolves into a newly launched project. One such example is the 1st EAN Science School, taking place in Salzburg next March. The idea of the Science School is to offer early career neurologists with an interest in translational research a new avenue for learning about basic pathomechanisms of neurological disorders. Application for this very first edition, on ‘Pathophysiology of disorders of the nervous system’, closed last week and we have been delighted with the level of interest. It was a pleasure to be part of the task force in charge of planning this new project and I look forward to seeing it officially transferred to the hands of the Scientific Committee after a successful event and evaluation in spring. Of our ongoing activities, one of the most significant is the EAN Neuro-covid Registry, which aims to collate epidemiological data on neurological manifestations in patients with COVID-19 infection reported by neurologists in outpatient services, emergency rooms, and hospital departments. We currently have 1,542 patients entered in the database, from 35 centres across 23 countries. So far, 29 patients have been followed for 12 months and 387 have completed the 6-months follow up. This is a decent start, but I would like to strongly encourage EAN members and their institutions to get involved and contribute cases to what will become an invaluable resource for neurologists and clinicians to improve care for Covid-19 patients. Finally, I would like share a word on a forthcoming collaboration between EAN and the Human Brain Project in December, that I think will interest a lot of EAN members. The EAN-EBRAINS joint workshop on ‘The future of medical data sharing in clinical neurosciences’ will be a three-day virtual event that aims to discuss issues and challenges associated with data sharing in Europe, from ethics to data safety and privacy, including those specific to data federation, such as the development and validation of federated algorithms. The whole workshop is completely free of charge and registration is open until 25 November, so please check out the details and sign up! I wish you all a healthy and pleasant autumn and I look forward to updating you again. Best wishes Thomas Berger Chair of the EAN Scientific Committee

      Executive Page: Management Group elections are coming – run for office and help shape our future!

      September 1, 2023

      Executive Page

      Executive Page: Thank you for making the EAN Congress 2023 a great success!

      July 24, 2023

      EAN News One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – December 2023

      December 1, 2023

      EAN News

      Swiss Brain Health Plan launches in Zurich

      November 24, 2023

      EAN News

      EAN 2024 – Abstract submission and registration OPEN!

      November 22, 2023

      EAN News

      Call for Applications: e-Learning Platform Associate Editors

      November 7, 2023

      EAN Congress news

      EAN 2024 – Abstract submission and registration OPEN!

      November 22, 2023

      EAN Congress news

      Burden of Sleep/Wake Disorders Project at EAN Congress 2023

      October 19, 2023

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      African Academy of Neurology features in Special Studio Session at EAN 2023

      July 25, 2023

      EAN Congress news

      Find photos, facts, figures and reports in our EAN Congress Review

      July 24, 2023

      Interviews

      Video Interview: Prof. Mary Reilly, Moritz Romberg lecturer at EAN 2023

      July 4, 2023

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      Video Interview: Mark Hallett, C. Brown-Séquard lecturer at EAN 2023

      July 3, 2023

      Interviews

      Video Interview: Josep Dalmau, Camillo Golgi Lecturer at EAN 2023

      July 2, 2023

      Interviews

      Video Interview: Dementia & Cognitive Disorders Panel Co-Chairs

      September 8, 2022

  • Research
    • All Paper of the Month Research Highlights
      Paper of the Month

      Research Paper of the Month: Apixaban for Stroke Prevention in Subclinical Atrial Fibrillation

      December 4, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – December 2023

      December 1, 2023

      Paper of the Month

      Research Paper of the Month: Effects of oral anticoagulation in people with atrial fibrillation after spontaneous intracranial haemorrhage (COCROACH)

      November 6, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – November 2023

      November 6, 2023

      Paper of the Month

      Research Paper of the Month: Apixaban for Stroke Prevention in Subclinical Atrial Fibrillation

      December 4, 2023

      Paper of the Month

      Research Paper of the Month: Effects of oral anticoagulation in people with atrial fibrillation after spontaneous intracranial haemorrhage (COCROACH)

      November 6, 2023

      Paper of the Month

      Research Paper of the Month: Transdermal Nicotine Treatment and Progression of Early Parkinson’s Disease

      October 1, 2023

      Paper of the Month

      Research Paper of the Month: Soluble Nogo-Receptor-Fc decoy (AXER-204) in patients with chronic cervical spinal cord injury in the USA

      September 1, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – December 2023

      December 1, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – November 2023

      November 6, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – October 2023

      October 1, 2023

      Research Highlights One glowing light bulb that stands out from unlit or dim lamps on a blue background

      Research Highlights of the Month – September 2023

      September 1, 2023

  • Education
    • All eLearning Student Corner Resident and Research Fellows Fellowship reports
      eLearning

      End 2023 with highlighted content on the eanCampus!

      December 2, 2023

      Resident and Research Fellows

      EAN Spring School 2024 – Apply NOW until 31 January 2024

      December 1, 2023

      Resident and Research Fellows

      EAN Autumn School 2023: Report

      November 30, 2023

      eLearning

      Call for Applications: e-Learning Platform Associate Editors

      November 7, 2023

      eLearning

      End 2023 with highlighted content on the eanCampus!

      December 2, 2023

      eLearning

      Call for Applications: e-Learning Platform Associate Editors

      November 7, 2023

      eLearning

      Kick off the new season with highlights on the eanCampus

      October 13, 2023

      eLearning

      World Brain Day with the European Academy of Neurology

      July 21, 2023

      Student Corner

      Student Teaser Fellowship reports 2022 – Pisa, London, & Lausanne

      September 13, 2023

      Student Corner Illustration of a vertical pencil point on a blue background, with a yellow light bulb above it

      Student Corner: My EAN Congress experience

      September 5, 2023

      Student Corner

      Student Teaser Fellowship reports 2022 – Rotterdam, London, & Paris

      August 22, 2023

      Student Corner

      Student Teaser Fellowship winners 2023

      June 28, 2023

      Resident and Research Fellows

      EAN Spring School 2024 – Apply NOW until 31 January 2024

      December 1, 2023

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      EAN Autumn School 2023: Report

      November 30, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Resident and Research Fellows

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Oxford Autoimmune Neurology Group

      September 16, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Centre Hospitalier Universitaire Vaudois, Lausanne

      September 15, 2023

      Fellowship reports

      Research Fellowship Report 2022 – Department of Neuromuscular Diseases Institute, University College London

      September 14, 2023

      Fellowship reports

      Student Teaser Fellowship reports 2022 – Pisa, London, & Lausanne

      September 13, 2023

  • Other News
    • All EAN Staff EBC News in general Surveys
      EAN Staff

      EAN Head Office Profiles: Ulla & Piyapat

      December 1, 2023

      EAN Staff

      EAN Head Office Profiles: Maria & Immanuel

      November 7, 2023

      Advocacy

      Brain community launches Call to Action during Brain Health & Research Day at UNGA78

      October 19, 2023

      EAN News

      Brain Innovation Days 2023: Meet the speakers!

      October 2, 2023

      EAN Staff

      EAN Head Office Profiles: Ulla & Piyapat

      December 1, 2023

      EAN Staff

      EAN Head Office Profiles: Maria & Immanuel

      November 7, 2023

      EAN Staff

      EAN Head Office Profiles: Kathrin & Sasha

      August 28, 2023

      EAN Staff Anja Sander receiving flowers at the end of EAN Congress 2023

      Celebrating 20 Years of Excellence: Anja Sander, EAN’s Executive Director!

      August 3, 2023

      EBC

      Brain community launches Call to Action during Brain Health & Research Day at UNGA78

      October 19, 2023

      EBC

      Brain Innovation Days 2023: Meet the speakers!

      October 2, 2023

      EBC

      Brain Innovation Days: Discover the early programme and register today!

      July 21, 2023

      EBC

      Join the community’s calls for a European Brain Research and Innovation Plan

      July 21, 2023

      News in general

      WHO’s Intersectoral Global Action Plan on epilepsy and other neurological disorders (IGAP) published in all six UN languages

      August 3, 2023

      News in general

      WHO recognises the public health need for effective and affordable treatments for multiple sclerosis

      August 3, 2023

      News in general

      Brain Innovation Days: Discover the early programme and register today!

      July 21, 2023

      News in general

      Join the community’s calls for a European Brain Research and Innovation Plan

      July 21, 2023

      Surveys

      Neurorehabilitation Across Europe after Ischemic and Traumatic Brain Injuries: a survey to increase knowledge on brain-injury-specific neurorehabilitation

      July 14, 2023

      Surveys

      ILAE survey on genetic testing in the epilepsies

      July 14, 2023

      Surveys

      COVID-19 and neurology: a survey of previous and continued restrictions on clinical practice, professional education and neuroeconomics

      March 3, 2023

      Surveys

      Help EAN contribute towards the development of a European Pain Research strategy

      December 5, 2022

Top 10 Articles

Top Article: Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

November 1, 2012

Abstract
We report the results of a meta-analysis of genome-wide association scans for multiple sclerosis (MS) susceptibility that includes 2,624 subjects with MS and 7,220 control subjects. Replication in an independent set of 2,215 subjects with MS and 2,116 control subjects validates new MS susceptibility loci at TNFRSF1A (combined P=1.59×10-11), IRF8 (P=3.73×10-9) and CD6 (P=3.79×10-9). TNFRSF1A harbors two independent susceptibility alleles: rs1800693 is a common variant with modest effect (odds ratio =1.2), whereas rs4149584 is a nonsynonymous coding polymorphism of low frequency but with stronger effect (allele frequency =0.02; odds ratio =1.6). We also report that the susceptibility allele near IRF8, which encodes a transcription factor known to function in type I interferon signaling, is associated with higher mRNA expression of interferon-response pathway genes in subjects with MS.

De Jager PL, Jia X, Wang J, Bakker PIW, Ottoboni L, Aggarwa NT, Piccio L, Raychaudhuri S,Tran D, Aubin C, Briskin R,Romano S, International MS Genetics Consortium, Baranzini SE, McCauley JL, Pericak-Vance MA, Haines JL, Gibson RA, Naeglin Y, Uitdehaag B, Matthews PM, Kappos L, Polman C, McArdle WL, Strachan DP, Evans D, Cross AH, Daly MJ, Compston A, Sawcer SJ, Weiner HL, Hauser SL, Hafler DA, Oksenberg JR. Nature Genetics. 2009 July, Volume 41(7): p776ff

Comment by Jean-Marc Burgunder

A genetic background leading to susceptibility to develop multiple sclerosis (MS) upon exposure to environmental influence has been postulated since many years. New technologies and approaches from molecular genetics now allow working to solve this intriguing question and improve our understanding of interactions between genetic and environmental factors. For this large number of well-defined cases with the specific phenotype under investigation are needed and subtle variations (for example single nucleotide polymorphisms, SNP) in the genetic coding, which by themselves do not lead to any disease, are assessed. This has been done in a number of studies, which need to be replicated. In the landmark study by De Jager a metaanalysis of several studies searching for statistical association of SNP with MS using the whole genome sequence (genome wide association study, GWAS) has been performed, followed by a replication study in a separate cohort. Furthermore, a profound analysis of the expression and function of the gene with statistically associated SNP was performed in order to try to better understand the molecular underpinning of the disease and suggest novel therapies based on a clearer picture of what happens at the molecular level.
For such investigations a large number of well-defined cases are needed. The meta-analysis presented in the De Jager paper has included more than 2500 cases and more than 7200 controls from 5 studies using three different genotyping platforms. In the replication sample more than 2000 cases and control each from 4 US and 2 UK sites were added and genotyped with a uniform technology. Such large numbers are needed in order to get strong enough statistical power in order to be able to draw strong conclusions on SNP association with the phenotype under scrutiny. The loci with the highest statistical association level where then selected for the replication study. Finally from the replication analysis of 180 high-quality SNPs already reported associations in MHC (HLA DRB1*1501 HLA B*4402) and other genes (CLEC16A, IL2RA and IL7R) were confirmed. Several new SNP were identified with genome wide (TNFRSF1A, IRF8 and CD6) evidence and a range of additional ones with suggestive evidence, which will need confirmation in other studies.
The IRF8 locus contains the genetic information for an important transcription factor, which mediates the response to type I interferons. It was therefore interesting and important to get a step further from the statistical association to examine the mechanisms, by which a modulated function of the gene represented by the variable SNP may be involved in the molecular mechanism of the disease, thus possibly explaining the higher susceptibility of carrier of this specific SNP to suffer from the disorder. To do so, the authors have assessed the expression profiles in peripheral blood mononuclear of 240 persons suffering from different MS types and stages. Using a specific pathway analysis software, they were able to show that interferon response genes expression was upregulated in a coordinate fashion dependent upon a specific allele of IRF8.
Such studies provide strong evidence of an association of specific gene variation with disease susceptibility. This opens up opportunities for the search for rational therapies based on an improved understanding to the multiple molecular mechanisms involved in the disease. However, at the same time, the complexity of the findings with a number of different genes involved, the variation of each one of which being putatively associated with large molecular networks, is a clear evidence that such therapies are not going to involved single molecules but a whole array of interventions.

Jean-Marc Burgunder is Professor of Neurology in Bern, Switzerland and Chair of the EFNS Scientist Panel on Neurogenetics.

Top Article: Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci was last modified: October 29th, 2012 by Editor
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About the Top 10 Articles

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Top Article: Cognitive impairment in incident, untreated Parkinson’s disease. The Norwegian ParkWest Study

June 1, 2012

Top 10 Articles 2012 & 2011

August 1, 2014

Top 10 articles 2012 & 2011

February 1, 2014

Top 10 articles 2012 & 2013 – citations and scientific significance

January 1, 2015

Top Article: Botulinum toxin for diabetic neuropathic pain: a randomized double-blind crossover trial

March 1, 2012

Top 10 Articles 2011 and 2010

March 1, 2013

Top 10 articles 2012 & 2011

March 1, 2014

Top 10 Articles 2011 and 2010

February 1, 2013

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