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11 new genetic susceptibility factors for AD discovered through the largest study
Date:10/27/2013

ed in AD, including the amyloid (SORL1, CASS4 ) and tau (CASS4 , FERMT2 ) pathways. The role of the immune response and inflammation (HLA-DRB5/DRB1 , INPP5D , MEF2C ) already implied by previous work (CR1, TREM2) is reinforced, as are the importance of cell migration (PTK2B), lipid transport and endocytosis (SORL1 ). New hypotheses have also emerged related to hippocampal synaptic function (MEF2C , PTK2B), the cytoskeleton and axonal transport (CELF1 , NME8, CASS4) as well as myeloid and microglial cell functions (INPP5D).

Finally, this work demonstrates that, given the complexity of such a disease, only a global collaboration of research efforts will quickly find solutions to tackle this major threat.

The four founding partners in this international consortium are, in alphabetical order, the Alzheimer's Disease Genetics Consortium (ADGC), the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), the European Alzheimer Disease Initiative (EADI) and the Genetic and Environmental Research in Alzheimer Disease (GERAD) consortium.

Boston University and the Framingham Heart Study are well-represented in this landmark international effort. The neurology working group of the Cohorts for Heart and Aging Research in Genomic Epidemiology is led by Sudha Seshadri, MD, professor of neurology at Boston University School of Medicine (BUSM), who is a senior investigator in the Framingham Heart Study and also one of the senior authors on this manuscript. Several other senior investigators, notably Anita L. DeStefano , PhD, professor of biostatistics Boston University School of Public Health (BUSPH) on behalf of CHARGE, and Lindsay A. Farrer, PhD, Chief of Biomedical Genetics and professor of medicine, neurology, ophthalmology, genetics & genomics, epidemiology, and biostatistics at BUSM and BUSPH on behalf of the ADGC, were key investigators in this effort. Farrer co-directs the data analysis effort for the ADGC which includes nearly all
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Contact: Gina DiGravio
gina.digravio@bmc.org
617-638-8480
Boston University Medical Center
Source:Eurekalert

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