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Research Highlights:

Scientists in the Stanley Center for Psychiatric Research at Broad Institute develop and employ state-of-the-art genome analysis methods to identify genetic risk factors for schizophrenia and uncover novel biochemical pathways and new targets for drug discovery. Broad scientists continue to collaborate with researchers across the globe to collect genetic material from tens of thousands of patients with schizophrenia and healthy controls. By analyzing these populations, they’ve been able to identify common and rare mutations contributing to schizophrenia risk, shedding light on biological pathways involved.

In July 2014, a multinational, collaborative effort including researchers from the Broad Institute and scores of other institutions across the globe announced results of the largest genomic study published on any psychiatric disorder to date. Published in Nature, the findings of the genome-wide association study (GWAS) describe more than 100 locations in the genome associated with risk of developing schizophrenia, up from only a handful known a few years prior, and point to biological mechanisms and pathways that may underlie the disorder. The study was the result of several years of work by the Schizophrenia Working Group of the Psychiatric Genomics Consortium, an international, multi-institutional collaboration founded in 2007 to conduct broad-scale analyses of genetic data for psychiatric disease.

In January, 2016 a landmark study led by scientists in the Stanley Center, Harvard Medical School, and Boston Children’s Hospital uncovered genetic evidence that schizophrenia may be caused in part by excessive synaptic pruning, or elimination of connections between neurons, in the brain during late adolescence, the typical period of onset for schizophrenia symptoms. This work represented the first time that the disorder was linked by genetic evidence to a specific gene – the immune molecule known as complement component 4 (C4) – and biological process – the elimination of neuronal connections in the developing brain, known as synaptic pruning. Enabled by catalytic philanthropic funding at the Stanley Center, the study suggests that excessive or prolonged synaptic pruning may lead to development of schizophrenia. Read more in the Broad press release or news story.

Schizophrenia news from the Broad

First glimpse of schizophrenia’s genetic roots shines light on a developmental process gone awry (Jan. 2016)
Groundbreaking work is the result of analytical ingenuity, fortuitous collaborations, and catalytic philanthropic funding

International research institutes team up to build new schizophrenia patient collections (Aug. 2015)
Institute for Molecular Medicine Finland (FIMM) at the University of Helsinki and the Stanley Center for Psychiatric Research at Broad Institute of MIT and Harvard, together with its international partners, are initiating major new sample collections in several regions and countries. The goal is to collect up to 50,000 samples from schizophrenia patients across the globe.

Stanley Center at the Broad Institute and New York Stem Cell Foundation partner to develop stem cell resource for schizophrenia and psychiatric diseases (Feb. 2015) 
Induced pluripotent stem cell lines to be made from people with schizophrenia and other psychiatric disorders, to study cell changes.

Study identifies biological mechanisms for schizophrenia, bipolar disorder and depression (Jan. 2015)
New research has found that common psychiatric disorders such as schizophrenia, bipolar disorder and major depression share genetic risk factors related to immune function and DNA regulation.

$650 million commitment to Stanley Center at Broad Institute aims to galvanize mental illness research (July 2014)
The commitment is aimed at bringing new treatments based on molecular understanding to hundreds of millions of people around the world.

International team sheds new light on biology underlying schizophrenia (July 2014)
Genes, pathways identified could inform new approaches to treatment

New studies show that many rare mutations contribute to schizophrenia risk (Jan. 2014)
Scientists analyzed the exomes, or protein-coding regions, of people with schizophrenia and their healthy counterparts, pinpointing the sites of mutations and identifying patterns that reveal clues about the biology underlying the disorder.

Rooting out schizophrenia (Aug. 2013)
In one of the largest systematic analyses of schizophrenia to date, researchers from the Broad’s Stanley Center for Psychiatric Research and elsewhere identified 13 new areas of the genome linked to schizophrenia.

Genetic variants for schizophrenia, bipolar disorder identified (Sep. 2011)
Two studies combining thousands of patient samples have allowed differences in DNA associated with the diseases to rise above a vast sea of statistical noise.

A rare glimpse of schizophrenia's genetic roots (Jul. 2008)
A multinational consortium uncovers some of the first definitive genetic links to schizophrenia and helps to define the diversity of DNA changes that contribute to the disease.