Philip L De Jager

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc Evaluation of an online platform for multiple sclerosis research: patient description, validation of severity scale, and exploration of BMI effects on disease course
    Riley Bove
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Institute for the Neurosciences, Brigham and Women s Hospital, Boston, Massachusetts, United States of America
    PLoS ONE 8:e59707. 2013
  2. pmc Intermediate phenotypes identify divergent pathways to Alzheimer's disease
    Joshua M Shulman
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital, Boston, Massachusetts, USA
    PLoS ONE 5:e11244. 2010
  3. pmc A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility
    W S Bush
    Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232 0700, USA
    Genes Immun 12:335-40. 2011
  4. pmc An inflection point in gene discovery efforts for neurodegenerative diseases: from syndromic diagnoses toward endophenotypes and the epigenome
    Philip L De Jager
    Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Departments of Neurology and Psychiatry, Brigham and Women s Hospital, Boston, Massachusetts, USA
    JAMA Neurol 70:719-26. 2013
  5. pmc A genome-wide scan for common variants affecting the rate of age-related cognitive decline
    Philip L De Jager
    Institute for the Neurosciences, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Neurobiol Aging 33:1017.e1-15. 2012
  6. pmc Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
    Philip L De Jager
    Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
    Nat Genet 41:776-82. 2009
  7. pmc Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score
    Philip L De Jager
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Lancet Neurol 8:1111-9. 2009
  8. pmc Cytometric profiling in multiple sclerosis uncovers patient population structure and a reduction of CD8low cells
    Philip L De Jager
    Harvard Medical School Partners Center for Genomics and Genetics, Brigham and Women s Hospital, 77 Avenue Louis Pasteur, NRB 168C, Boston, MA 02115, USA
    Brain 131:1701-11. 2008
  9. pmc Identifying patient subtypes in multiple sclerosis and tailoring immunotherapy: challenges for the future
    Philip L De Jager
    PhD Brigham and Women s Hospital Neurology, Boston, MA, USA
    Ther Adv Neurol Disord 2:8-19. 2009
  10. ncbi request reprint New therapeutic approaches for multiple sclerosis
    Philip L De Jager
    Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Annu Rev Med 58:417-32. 2007

Research Grants

Detail Information

Publications67

  1. pmc Evaluation of an online platform for multiple sclerosis research: patient description, validation of severity scale, and exploration of BMI effects on disease course
    Riley Bove
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Institute for the Neurosciences, Brigham and Women s Hospital, Boston, Massachusetts, United States of America
    PLoS ONE 8:e59707. 2013
    ..com (PLM), for research in multiple sclerosis (MS). An investigation of the role of body mass index (BMI) on MS disease course was conducted to illustrate the utility of the platform...
  2. pmc Intermediate phenotypes identify divergent pathways to Alzheimer's disease
    Joshua M Shulman
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital, Boston, Massachusetts, USA
    PLoS ONE 5:e11244. 2010
    ..However, little is known of the role of these candidate genes in influencing intermediate phenotypes associated with a diagnosis of AD, including cognitive decline or AD neuropathologic burden...
  3. pmc A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility
    W S Bush
    Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University, Nashville, TN 37232 0700, USA
    Genes Immun 12:335-40. 2011
    ..Further, the implicated genes cluster within inter-related biological mechanisms that suggest a neurodegenerative component to MS...
  4. pmc An inflection point in gene discovery efforts for neurodegenerative diseases: from syndromic diagnoses toward endophenotypes and the epigenome
    Philip L De Jager
    Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Departments of Neurology and Psychiatry, Brigham and Women s Hospital, Boston, Massachusetts, USA
    JAMA Neurol 70:719-26. 2013
    ....
  5. pmc A genome-wide scan for common variants affecting the rate of age-related cognitive decline
    Philip L De Jager
    Institute for the Neurosciences, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Neurobiol Aging 33:1017.e1-15. 2012
    ....
  6. pmc Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
    Philip L De Jager
    Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
    Nat Genet 41:776-82. 2009
    ....
  7. pmc Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score
    Philip L De Jager
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Lancet Neurol 8:1111-9. 2009
    ..We investigated the usefulness of an aggregate measure of risk of MS that is based on genetic susceptibility loci. We also assessed the added effect of environmental risk factors that are associated with susceptibility for MS...
  8. pmc Cytometric profiling in multiple sclerosis uncovers patient population structure and a reduction of CD8low cells
    Philip L De Jager
    Harvard Medical School Partners Center for Genomics and Genetics, Brigham and Women s Hospital, 77 Avenue Louis Pasteur, NRB 168C, Boston, MA 02115, USA
    Brain 131:1701-11. 2008
    ....
  9. pmc Identifying patient subtypes in multiple sclerosis and tailoring immunotherapy: challenges for the future
    Philip L De Jager
    PhD Brigham and Women s Hospital Neurology, Boston, MA, USA
    Ther Adv Neurol Disord 2:8-19. 2009
    ..The tools and methods to gain insight into the heterogeneity of MS patients are available today; we must now realize their potential in enhancing the care of MS patients...
  10. ncbi request reprint New therapeutic approaches for multiple sclerosis
    Philip L De Jager
    Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Annu Rev Med 58:417-32. 2007
    ....
  11. ncbi request reprint Genetic variation in toll-like receptor 9 and susceptibility to systemic lupus erythematosus
    Philip L De Jager
    Department of Neurology, Harvard Medical School, Brigham and Women s Hospital, Boston, MA 02115, USA
    Arthritis Rheum 54:1279-82. 2006
    ..This variability in activation threshold may, in turn, affect an individual's susceptibility to SLE. This study assessed the role of genetic variation within the TLR-9 gene in susceptibility to SLE...
  12. ncbi request reprint Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis
    Philip L De Jager
    Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital, and Harvard Medical School, Boston, MA 02115, USA
    Eur J Hum Genet 14:317-21. 2006
    ....
  13. pmc The role of the CD58 locus in multiple sclerosis
    Philip L De Jager
    Division of Molecular Immunology, Center for Neurologic Diseases, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 106:5264-9. 2009
    ....
  14. pmc Clinical relevance and functional consequences of the TNFRSF1A multiple sclerosis locus
    Linda Ottoboni
    From the Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Departments of Neurology and Psychiatry L O, I Y F, M L, B T K, Z X, P L D, Department of Neurology, Partners MS Center, Center for Neurologic Diseases B C H, T C, S J K, H L W, P L D, and Center for Neurological Imaging, Department of Radiology C R G, Brigham and Women s Hospital and Harvard Medical School, Boston, MA Program in Medical and Population Genetics L O, I Y F, M L, B T K, Z X, P L D, Broad Institute of Harvard University and the Massachusetts Institute of Technology, Cambridge and the Department of Neurology and Immunobiology D A H, Yale School of Medicine, New Haven, CT
    Neurology 81:1891-9. 2013
    ..We set out to characterize the clinical impact and functional consequences of rs1800693(G), the multiple sclerosis (MS) susceptibility allele found in the TNFRSF1A locus...
  15. ncbi request reprint Polarization of the effects of autoimmune and neurodegenerative risk alleles in leukocytes
    Towfique Raj
    Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Departments of Neurology and Psychiatry, Brigham and Women s Hospital, Boston, MA 02115, USA
    Science 344:519-23. 2014
    ..This polarization implicates specific immune cell types in these diseases and points to the need to identify the cell-autonomous effects of disease susceptibility variants. ..
  16. ncbi request reprint Risk alleles for multiple sclerosis identified by a genomewide study
    David A Hafler
    Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital, and Harvard Medical School, Boston, USA
    N Engl J Med 357:851-62. 2007
    ..Multiple sclerosis has a clinically significant heritable component. We conducted a genomewide association study to identify alleles associated with the risk of multiple sclerosis...
  17. pmc A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline
    Brendan T Keenan
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Hum Mol Genet 21:2377-88. 2012
    ..We thus implicate C1q and MBL, which bind to LHR-D, as likely targets of the variant's effect and suggest that CR1 may be an important intermediate in the clearance of Aβ42 particles by C1q...
  18. pmc CR1 is associated with amyloid plaque burden and age-related cognitive decline
    Lori B Chibnik
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital, Boston, MA, USA
    Ann Neurol 69:560-9. 2011
    ..We leveraged available neuropsychological and autopsy data from 2 cohort studies to investigate whether these loci are associated with cognitive decline and AD neuropathology...
  19. pmc An RNA profile identifies two subsets of multiple sclerosis patients differing in disease activity
    Linda Ottoboni
    Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Sci Transl Med 4:153ra131. 2012
    ..0077). We thus report a transcriptional signature that differentiates subjects with MS into two classes with different levels of disease activity...
  20. pmc A putative Alzheimer's disease risk allele in PCK1 influences brain atrophy in multiple sclerosis
    Zongqi Xia
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital, Boston, Massachusetts, United States of America
    PLoS ONE 5:e14169. 2010
    ..We used a candidate gene approach to address whether genetic variants implicated in susceptibility to late onset Alzheimer's Disease (AD) influence brain volume and cognition in MS patients...
  21. pmc Normalization of plasma 25-hydroxy vitamin D is associated with reduced risk of surgery in Crohn's disease
    Ashwin N Ananthakrishnan
    Division of Gastroenterology, Massachusetts General Hospital, Boston, MA 02114, USA
    Inflamm Bowel Dis 19:1921-7. 2013
    ..Vitamin D may have an immunologic role in Crohn's disease (CD) and ulcerative colitis (UC). Retrospective studies suggested a weak association between vitamin D status and disease activity but have significant limitations...
  22. pmc Fine-mapping the genetic association of the major histocompatibility complex in multiple sclerosis: HLA and non-HLA effects
    Nikolaos A Patsopoulos
    Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Department of Neurology, Brigham and Women s Hospital, Boston, Massachusetts, United States of America Division of Genetics, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America Harvard Medical School, Boston, Massachusetts, United States of America Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America
    PLoS Genet 9:e1003926. 2013
    ..This study dissects the independent effects in the MHC, a critical region for MS susceptibility that harbors multiple risk alleles. ..
  23. pmc Functional screening of Alzheimer pathology genome-wide association signals in Drosophila
    Joshua M Shulman
    Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Am J Hum Genet 88:232-8. 2011
    ..Our strategy of coupling genome-wide association in humans with functional screening in a model organism is likely to be a powerful approach for gene discovery in AD and other complex genetic disorders...
  24. pmc Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels
    David Reich
    Department of Genetics, Harvard Medical School, New Research Building, Boston, MA 02115, USA
    Am J Hum Genet 80:716-26. 2007
    ..0x10-12 for IL-6 SR, and P<2.0x10-9 for IL-6. These results also serve as an important proof of principle, showing that admixture mapping can not only coarsely localize but can also fine map a phenotypically important variant...
  25. pmc A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01
    Bruce A C Cree
    Department of Neurology, University of California San Francisco, San Francisco, California, United States of America
    PLoS ONE 5:e11296. 2010
    ..Whether other major histocompatibility complex (MHC) genes contribute to MS susceptibility is controversial...
  26. pmc Age at surgical menopause influences cognitive decline and Alzheimer pathology in older women
    Riley Bove
    From the Program in Translational NeuroPsychiatric Genomics R B, E S, L B C, P L D, Institute for the Neurosciences, Department of Neurology, Brigham and Women s Hospital Harvard Medical School R B, L B C, P L D, Boston, MA and the Departments of Neurological Sciences L L B and Neuropathology J A S, D A B, Rush University Medical Center, Chicago, IL
    Neurology 82:222-9. 2014
    ..To determine the association between age at surgical menopause and both cognitive decline and Alzheimer disease (AD) pathology in 2 longitudinal cohorts...
  27. pmc No sex-specific difference in disease trajectory in multiple sclerosis patients before and after age 50
    Riley Bove
    Partners Multiple Sclerosis Center, Department of Neurology, Brigham and Women s Hospital, Brookline, MA 02445, USA
    BMC Neurol 13:73. 2013
    ..Little is known about sex-specific changes in disease course around age 50, which may represent a key biological transition period for reproductive aging...
  28. pmc Alzheimer disease susceptibility loci: evidence for a protein network under natural selection
    Towfique Raj
    Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences Department of Neurology, Brigham and Women s Hospital, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
    Am J Hum Genet 90:720-6. 2012
    ..The context for selection is probably unrelated to AD itself; it is likely that these genes interact in another context, such as in immune cells, where we observe cis-regulatory effects at several of the selected AD loci...
  29. pmc Common risk alleles for inflammatory diseases are targets of recent positive selection
    Towfique Raj
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Am J Hum Genet 92:517-29. 2013
    ....
  30. pmc Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci
    Nikolaos A Patsopoulos
    Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Ann Neurol 70:897-912. 2011
    ..To perform a 1-stage meta-analysis of genome-wide association studies (GWAS) of multiple sclerosis (MS) susceptibility and to explore functional consequences of new susceptibility loci...
  31. doi request reprint Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLA
    Bruce A C Cree
    Department of Neurology, University of California San Francisco, USA
    Arch Neurol 66:226-33. 2009
    ....
  32. pmc IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production
    Lisa M Maier
    Division of Molecular Immunology, Center for Neurologic Diseases, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 5:e1000322. 2009
    ..We demonstrate that multiple variants independently correlate with sIL-2RA levels...
  33. doi request reprint The CD6 multiple sclerosis susceptibility allele is associated with alterations in CD4+ T cell proliferation
    David M Kofler
    Department of Neurology, Yale School of Medicine, New Haven, CT 06520, USA
    J Immunol 187:3286-91. 2011
    ..These findings indicate that the MS risk allele in the CD6 locus is associated with altered proliferation of CD4(+) T cells and demonstrate the influence of a disease-related allelic variant on important immunological characteristics...
  34. pmc Soluble IL-2RA levels in multiple sclerosis subjects and the effect of soluble IL-2RA on immune responses
    Lisa M Maier
    Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    J Immunol 182:1541-7. 2009
    ..In summary, we propose that before disease onset, strong genetic factors associated with disease risk dictate sIL-2RA levels that may be further modulated with onset of chronic systemic inflammation associated with MS...
  35. pmc Genome-wide association study of the rate of cognitive decline in Alzheimer's disease
    Richard Sherva
    Department of Medicine Biomedical Genetics, Boston University School of Medicine, Boston, MA, USA Electronic address
    Alzheimers Dement 10:45-52. 2014
    ..We describe the first genome-wide association study to examine rate of cognitive decline in a sample of AD patients with longitudinal measures of cognition...
  36. pmc CD33 Alzheimer's disease locus: altered monocyte function and amyloid biology
    Elizabeth M Bradshaw
    Center for Neurologic Diseases, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Nat Neurosci 16:848-50. 2013
    ..It was also associated with diminished internalization of amyloid-β 42 peptide, accumulation of neuritic amyloid pathology and fibrillar amyloid on in vivo imaging, and increased numbers of activated human microglia...
  37. doi request reprint Population structure and HLA DRB1 1501 in the response of subjects with multiple sclerosis to first-line treatments
    Robert Gross
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, United States
    J Neuroimmunol 233:168-74. 2011
    ..The HLA DRB1 1501 allele explained some of this variation in event-free survival while on GA, and we found suggestive evidence that an IRF8 polymorphism influences event-free survival in IFN β treated subjects...
  38. pmc Genetics of rheumatoid arthritis contributes to biology and drug discovery
    Yukinori Okada
    1 Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA 2 Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA 3 Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142, USA
    Nature 506:376-81. 2014
    ....
  39. doi request reprint A 17q12 allele is associated with altered NK cell subsets and function
    Zongqi Xia
    Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Department of Neurology and Psychiatry, Brigham and Women s Hospital, Boston, MA 02115, USA
    J Immunol 188:3315-22. 2012
    ....
  40. pmc Genome-wide assessment for genetic variants associated with ventricular dysfunction after primary coronary artery bypass graft surgery
    Amanda A Fox
    Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS ONE 6:e24593. 2011
    ..We aimed to determine if genetic variants associate with occurrence of in-hospital VnD after CABG surgery...
  41. pmc Allelic variant in CTLA4 alters T cell phosphorylation patterns
    Lisa M Maier
    Division of Molecular Immunology, Center for Neurologic Diseases, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 104:18607-12. 2007
    ..Thus, allelic variation associated with autoimmune disease can alter the signaling threshold of CD4(+) T cells. These experiments provide a rational approach for the dissection of T cell-susceptibility genes in autoimmune diseases...
  42. pmc Genetic risk variants in African Americans with multiple sclerosis
    Noriko Isobe
    Department of Neurology, School of Medicine, University of California, San Francisco, CA, USA
    Neurology 81:219-27. 2013
    ..To assess the association of established multiple sclerosis (MS) risk variants in 3,254 African Americans (1,162 cases and 2,092 controls)...
  43. pmc CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer's disease susceptibility
    Towfique Raj
    Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Departments of Neurology and Psychiatry, Brigham and Women s Hospital, Boston, MA 02115, USA
    Hum Mol Genet 23:2729-36. 2014
    ....
  44. pmc Application of user-guided automated cytometric data analysis to large-scale immunoprofiling of invariant natural killer T cells
    Xinli Hu
    Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115
    Proc Natl Acad Sci U S A 110:19030-5. 2013
    ....
  45. pmc Functionally defective germline variants of sialic acid acetylesterase in autoimmunity
    Ira Surolia
    Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 466:243-7. 2010
    ..9 in subjects with type I diabetes. Functionally defective SIAE rare and polymorphic variants represent a strong genetic link to susceptibility in relatively common human autoimmune disorders...
  46. pmc Regulation of gene expression in autoimmune disease loci and the genetic basis of proliferation in CD4+ effector memory T cells
    Xinli Hu
    Division of Rheumatology, Immunology and Allergy, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts, United States of America Division of Genetics, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts, United States of America Partners Center for Personalized Genetic Medicine, Boston, Massachusetts, United States of America Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America Harvard Medical School, Boston, Massachusetts, United States of America Harvard MIT Division of Health Sciences and Technology, Boston, Massachusetts, United States of America
    PLoS Genet 10:e1004404. 2014
    ..Our study underscores the power of examining molecular phenotypes in relevant cells and conditions for understanding pathogenic mechanisms of disease variants...
  47. pmc Modeling disease severity in multiple sclerosis using electronic health records
    Zongqi Xia
    Department of Neurology, Brigham and Women s Hospital, Boston, Massachusetts, United States of America Harvard Medical School, Boston, Massachusetts, United States of America Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
    PLoS ONE 8:e78927. 2013
    ....
  48. doi request reprint Exploring the role of the epigenome in multiple sclerosis: a window onto cell-specific transcriptional potential
    Anna Kaliszewska
    Program in Translational NeuroPsychiatric Genomics, Department of Neurology, Brigham and Women s Hospital, 77 Avenue Louis Pasteur, NRB168, and Harvard Medical School, Boston, MA 02115, USA
    J Neuroimmunol 248:2-9. 2012
    ....
  49. pmc Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data
    Joanne H Wang
    Department of Neurology, University of California San Francisco, San Francisco, CA 94143 0435, USA
    Genome Med 3:3. 2011
    ..Nevertheless, the knowledge of MS genetics remains incomplete, with many risk alleles still to be revealed...
  50. ncbi request reprint Applying a new generation of genetic maps to understand human inflammatory disease
    David A Hafler
    Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
    Nat Rev Immunol 5:83-91. 2005
    ....
  51. pmc Similar risk of depression and anxiety following surgery or hospitalization for Crohn's disease and ulcerative colitis
    Ashwin N Ananthakrishnan
    Crohn s and Colitis Center, Division of Gastroenterology, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Gastroenterol 108:594-601. 2013
    ..The objective of this study is to examine whether there is a difference in the risk of psychiatric comorbidity following surgery in CD and UC...
  52. pmc Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines
    Edwin Choy
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America
    PLoS Genet 4:e1000287. 2008
    ..While LCLs are a promising model for pharmacogenetic experiments, biological noise and in vitro artifacts may reduce power and have the potential to create spurious association due to confounding...
  53. pmc Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis
    Jing Cui
    Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 9:e1003394. 2013
    ..These findings support a model in which CD84 genotypes and/or expression may serve as a useful biomarker for response to etanercept treatment in RA patients of European ancestry...
  54. ncbi request reprint A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibility
    David Reich
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 37:1113-8. 2005
    ..We describe here the first high-powered admixture scan, focusing on 605 African American cases and 1,043 African American controls, and report a locus on chromosome 1 that is significantly associated with multiple sclerosis...
  55. pmc Interindividual variation in human T regulatory cells
    Alessandra Ferraro
    Division of Immunology, Department of Microbiology and Immunobiology, Harvard Medical School, Boston, MA 02115
    Proc Natl Acad Sci U S A 111:E1111-20. 2014
    ..Although no single transcript showed significant association to diabetes, overall expression of the Treg signature was subtly perturbed in T1D, but not T2D, patients. ..
  56. pmc Pervasive sharing of genetic effects in autoimmune disease
    Chris Cotsapas
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America
    PLoS Genet 7:e1002254. 2011
    ..We are thus able to leverage genetic data across diseases to construct biological hypotheses about the underlying mechanism of pathogenesis...
  57. pmc PhIP-Seq characterization of autoantibodies from patients with multiple sclerosis, type 1 diabetes and rheumatoid arthritis
    H Benjamin Larman
    Harvard MIT Division of Health Sciences and Technology, Cambridge, MA, USA
    J Autoimmun 43:1-9. 2013
    ..This work demonstrates the utility of performing PhIP-Seq screens on large numbers of individuals and is another step toward defining the full complement of autoimmunoreactivities in health and disease...
  58. pmc Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway
    Gang Li
    Division of Rheumatology, Immunology, and Allergy and Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, USA
    PLoS Genet 9:e1003487. 2013
    ..Our study demonstrates proof-of-concept that human genetics can be used to guide the development of phenotype-based, high-throughput small-molecule screens to identify potential novel therapies in complex traits such as RA...
  59. pmc A common polymorphism near PER1 and the timing of human behavioral rhythms
    Andrew S P Lim
    Division of Neurology, Department of Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada
    Ann Neurol 72:324-34. 2012
    ..However, no common polymorphism has been associated with the timing of directly observed human behavioral rhythms or other physiological markers of circadian timing at the population level...
  60. ncbi request reprint Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
    Eli A Stahl
    Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital, Boston, Massachusetts, USA
    Nat Genet 42:508-14. 2010
    ..An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles...
  61. ncbi request reprint Common genetic variants modulate pathogen-sensing responses in human dendritic cells
    Mark N Lee
    Broad Institute of Massachusetts Institute of Technology MIT and Harvard, Cambridge, MA 02142, USA
    Science 343:1246980. 2014
    ..Our results reveal common alleles that explain interindividual variation in pathogen sensing and provide functional annotation for genetic variants that alter susceptibility to inflammatory diseases. ..
  62. pmc Self-antigen tetramers discriminate between myelin autoantibodies to native or denatured protein
    Kevin C O'Connor
    Center for Neurologic Diseases, Brigham and Women s Hospital, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
    Nat Med 13:211-7. 2007
    ..MOG-specific autoantibodies were identified in a subset of ADEM but only rarely in adult-onset MS cases, indicating that MOG is a more prominent target antigen in ADEM than MS...
  63. ncbi request reprint Gene expression profiling in MS: what is the clinical relevance?
    Philip L De Jager
    Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Lancet Neurol 3:269. 2004
  64. doi request reprint Parkinson's disease: genetics and pathogenesis
    Joshua M Shulman
    Department of Neurology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Annu Rev Pathol 6:193-222. 2011
    ....
  65. pmc Charting a dynamic DNA methylation landscape of the human genome
    Michael J Ziller
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Nature 500:477-81. 2013
    ..Therefore, our selected DMRs can serve as a starting point to guide new, more effective reduced representation approaches to capture the most informative fraction of CpGs, as well as further pinpoint putative regulatory elements. ..
  66. pmc High-dimensional immunomonitoring models of HIV-1-specific CD8 T-cell responses accurately identify subjects achieving spontaneous viral control
    Zaza M Ndhlovu
    Ragon Institute of Massachusetts General Hospital, Massachusetts Institute of Technology and Harvard, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
    Blood 121:801-11. 2013
    ..This strategy may have important applications in predictive model development and immune monitoring of HIV-1 vaccine trials...
  67. pmc Multicolored stain-free histopathology with coherent Raman imaging
    Christian W Freudiger
    Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA, USA
    Lab Invest 92:1492-502. 2012
    ..These stain-free histopathological images show resolutions similar to those obtained by conventional techniques, but do not require tissue fixation, sectioning or staining of the tissue analyzed...

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