stephan ripke (@stephanripke) 's Twitter Profile
stephan ripke

@stephanripke

ID: 388683808

linkhttp://www.broadinstitute.org/mpg/ricopili calendar_today11-10-2011 05:05:31

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Charité - Universitätsmedizin Berlin (@chariteberlin) 's Twitter Profile Photo

1/2 Welche Rolle spielt das Erbgut bei #Schizophrenie? Forschende der #CharitéBerlin sind der Antwort ein Stück nähergekommen. In internationaler Zusammenarbeit ist die bisher größte genetische Studie dazu entstanden. nature BRIDGE-S Berlin charite.de/service/presse…

Charité - Universitätsmedizin Berlin (@chariteberlin) 's Twitter Profile Photo

2/2 Für weitere Informationen zu #Genetik und #Psychiatrie: Der leitende Studienautor Prof. Ripke von der #CharitéBerlin sprach im Wissenschaft u. a. über Schizophrenie-Gene und genetisch ähnliche Muster von verschiedenen psychiatrischen Krankheiten. deutschlandfunk.de/schizophrenie-…

Charité - Universitätsmedizin Berlin (@chariteberlin) 's Twitter Profile Photo

What is the role of genetics in schizophrenia? Thanks to an international collaboration and the largest-ever genetic study on the disorder, researchers from #CharitéBerlin have brought us one step closer to an answer. nature BRIDGE-S Berlin charite.de/en/service/pre…

James Walters (@drjameswalters) 's Twitter Profile Photo

1/12 Very pleased to finally share the @PGC Schizophrenia Group paper: Mapping genomic loci implicates genes and synaptic biology in schizophrenia disq.us/t/46oo9bv (my first proper thread!!)

James Walters (@drjameswalters) 's Twitter Profile Photo

2/12 It was a pleasure to work on this with all colleagues from the PGC including Vasa Trubetskoy Antonio F. Pardiñas stephan ripke and Mick O'Donovan and alongside the SCHEMA consortium TJ Singh Mark Daly @bmneale

James Walters (@drjameswalters) 's Twitter Profile Photo

3/12 Bringing together data from 76,755 individuals with schizophrenia and 243,649 control individuals in mainly European but also East Asian, African American and Latino ancestries identifying, we report common variant associations at 287 distinct genomic loci.

James Walters (@drjameswalters) 's Twitter Profile Photo

4/12 SNP-based heritability was estimated to be 0.24, polygenic risk score (PRS) analysis explained a median of 0.073 of variance in liability (SNPs with GWAS P < 0.05).

James Walters (@drjameswalters) 's Twitter Profile Photo

5/12 Compared to the lowest centile of PRS, the highest has OR for SZ of 39, and 5.6 when the top centile is compared with the remaining 99% of individuals. This should be helpful for research (with caveats doi.org/10.1038/s41588…) but not currently for clinical applications.

James Walters (@drjameswalters) 's Twitter Profile Photo

6/12 We detected no notable differences in genomic risk between males and females despite a minimally higher male prevalance

James Walters (@drjameswalters) 's Twitter Profile Photo

7/12 Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Previous enrichments strengthened but we did not see a broadening beyond neuronal cell types.

James Walters (@drjameswalters) 's Twitter Profile Photo

9/12 We then priortised 120 genes based on statistical fine-mapping and functional annotation, including 16 genes (and high probability SNPs) with credible causal non-synonymous or untranslated region variation.

James Walters (@drjameswalters) 's Twitter Profile Photo

10/12 A main insight was the convergence of findings between common and rare genetic variation. Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants from SCHEMA, highlighting glutamatergic function including GRIN2A and SP4.

James Walters (@drjameswalters) 's Twitter Profile Photo

11/12 Thanks to the PGC Consortium for support, the 100s of investigators and researchers in the schizophrenia group, 1000s of clinicians and 10,000s patients who made the study possible.

James Walters (@drjameswalters) 's Twitter Profile Photo

12/12 These represent what we consider some of the first steps in identifying the ingredients of biological risk for schizophrenia. We hope they provide tools for further study, mechanistic insight and in time better treatments for those with what can be a devastating condition.

stephan ripke (@stephanripke) 's Twitter Profile Photo

Excited to share our new Genome-wide meta-analysis of myasthenia gravis! The study identifies novel genetic loci and enhances prediction models. Read more: nature.com/articles/s4146… Alice Braun #Genetics #MyastheniaGravis

PGC Consortium (@pgcgenetics) 's Twitter Profile Photo

10/n We PGC Consortium would like to thank everyone who participated in these (or any) studies for their generosity and time. We would also like to thank all of our collaborators and funders who made this effort possible –

ASHG (@geneticssociety) 's Twitter Profile Photo

We oppose HR1313, a wellness program bill that would undermine the genetic privacy protections of GINA & ADA: bit.ly/2mCiBW5