Details

Autor(en) / Beteiligte

• Braff, David

Titel

5. Endophenotypes: The Legacy and Future of Irv Gottesman’s Work

Ist Teil von

• Schizophrenia bulletin, 2017-03, Vol.43 (suppl_1), p.S6-S6

Ort / Verlag

US: Oxford University Press

Erscheinungsjahr

2017

Link zum Volltext

Quelle

Oxford Journals 2020 Medicine

Beschreibungen/Notizen

• Overall Abstract: The panel “Endophenotypes: The Legacy and Future of Irv Gottesman’s Work” will present Gottesman’s accomplishments from his pioneering work in the polygenicity and epigenetics of schizophrenia and focus on his introduction and development of the quantitative endophenotype concept in schizophrenia and related neuropsychiatric disorders research. David Braff will present an overview introduction on Gottesman’s work focusing on quantitative endophenotypes, which have also been identified by the MATRICS study as targets for new drug and neuroscience based cognitive antipsychotic treatments. Braff will discuss the multisite COGS-1 family study and COGS-2 case–control study of quantitative neurocognitive and neurophysiological endophenotypes that has yielded high impact Association, Linkage, Sequencing, and Epigenetic findings that converge on informing the field about the genomic architecture of schizophrenia and its treatment. David Glahn will discuss his construct of Endophenotype Based Genetic Inference: Characterizing Variance and Modeling Liability. The relationship of genomic variants and related liability markers is a crucial step in understanding the neurobiology of schizophrenia and also in identifying early profiles of liability that facilitate early intervention, an important aspect of schizophrenia research. Carol Tamminga will discuss her work and the B-SNIP Bipolar and Schizophrenia Project, and her talk, “Endophenotypes Guide Psychosis Neurobiology Formulations” will inform the audience about how endophenotypes can be examined across schizophrenia and bipolar disorder dimension of psychosis, with neurobiologically informed endophenotypes as a crucial domain. She will also discuss how quantitative endophenotype data can be used to construct biotypes, a powerful integrative neurobiological tool in psychosis research. Dr. Gur will discuss her research across 3 large endophenotype consortia: work with the COGS, PARTNERS (African American) and the MGI (Multigenerational Study) Consortia. Together, these 3 Consortia on endophenotypes in schizophrenia (TOSCA Consortia) has deeply phenotyped and now genotyped over 8000 subjects. In her talk, “From Genes to Phenes: The Endophenotype Bridge” Raquel Gur will discuss how quantitative neurocognitive endophenotypes from 3 major Consortia (MGI, PAARTNERS and COGS) increase how the neurocognitive endophenotype of psychotic patients can be leveraged to increase our understanding of the of genomic architecture of schizophrenia. These talks all converge on the importance of ongoing work with Gottesman’s quantitative, laboratory-based endophenotype concept that has informed the field in bridging the issue of better understanding the gene to phene to novel treatment domains, a challenge that is presented by the complex neuropsychiatric disorders of schizophrenia and related psychoses.