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12.05.2024 SCHEMA: Revealing the strongest genetic signals yet for schizophrenia risk


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12.05.2024

There are many people who suffer from. psychiatric illness and there is kind of. immeasurable suffering in those. disorders these are. very serious unmet medical needs right. now there are a number of medicines that. we give people that are affected by. severe mental illnesses but these work. for some people but don't work for a lot. of people we really need to develop. treatments that are more specific that. work for more people and also have much. less debilitating side effects so that. we could you know allow people to live. the lives they want to. schema is the schizophrenia exo. metaanalysis consortium schema was. formed in 2017 to analyze patients from. around the world so that we reach a. number that's sufficiently large so we. could have the power to identify these. genetic risk factors in total there are.

25 000 patients and over a hundred. thousand controls in the final study the. most important thing to. come out of the schema analysis are the. 10. genes conclusively associated to risk. for disease most of the genetic. discoveries at this point in time have. been driven by common variant. association if you carry one of these. common variants you might have a 1.2. chance of having schizophrenia rather. than just a 1 chance these 10 conclusive. discoveries carry with them much larger. effect sizes than most of the genetic. discoveries that have been made prior to. the schema efforts it's a 10 chance a 20. chance maybe even a 50 chance that you. go on to develop schizophrenia if you. carry one of these mutations what we. also find is that there are shared. genetic risk factors across. neurodevelopmental and psychiatric.

Disorders between schizophrenia. intellectual disability and autism. spectrum disorders i think what it means. for patients in the long run is that we. will begin to understand that. schizophrenia is a biologically driven. disorder beyond the therapeutics angle. the genetics will help us to find. biomarkers that can differentiate. patient subsets within schizophrenia. ultimately we're going to be able to. treat schizophrenia in a rational way to. put together a study like this requires. hundreds of clinicians and psychiatric. nurses technicians to sequence large. numbers of individuals programmers and. statisticians to build tools to analyze. the emerging data and most importantly. we have to thank the tens of thousands. of individuals patients and families who. have contributed to this study in a. sense this is just step one this is the.

start of the story not not the end of it. the next thing we need to do is finish. the job and scale up these efforts so. that we can begin to build an atlas of. 10 20 30 40 100 genes and with those. genes lies the clues for which we can. understand the causes of these disorders. i don't think we should present the idea. that this will magically translate into. a cure for those individuals immediately. but it gives us something to work with. it gives us another. kind of. piece of the puzzle to put together into. a deeper and clearer understanding of. what exactly is going on with. schizophrenia

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