Wednesday, November 23, 2016

Largest study of its kind finds rare genetic variations linked to schizophrenia

Studying schizophrenia has been difficult to observe and study due to the fact it is such a rare condition.  However at the University of California San Diego school of medicine conducted one of the biggest studies on schizophrenia.  The study was conducted by scientists and tested more than 41000 genomes in 41000 people and is the largest of its kind.  

The genetic variation that leads to schizophrenia is difficult to analyze and study.  That is why Jonathan Sebat PhD and his team study genomes of 41000 people at the University of California San Diego school of medicine.  They found several regions in the genome which increase the risk of schizophrenia by anywhere from 4-60 times.  

The mutations that cause schizophrenia are caused by either deletions or duplications in the genome sequence.  They refer to these mutations as copy number variants.  The copy number variant could affect anywhere from one to dozens of genes.  They found that normally a wide range of copy number variants leads more frequently to schizophrenia.  

Sebat and his team worked with 260 researchers to study 21,094 people with schizophrenia and 20,227 people without schizophrenia.  After the research was done they found out 8 different genomic location where the copy number variant is linked to schizophrenia.  They also found out that most the gees that were involved were the genes of synapses.  

I believe this is a good start on finding a way to help with this mutation.  this disease affects many people in the U.S. and the world so the more we know about it the better we will be able to help find a cure.  
sources:https://www.sciencedaily.com/releases/2016/11/161122182359.htm
https://health.ucsd.edu/news/releases/Pages/2016-11-22-study-finds-rare-genetic-variations-linked-to-schizophrenia.aspx

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