-- New Research Revealing VPS35 Mutation in Parkinson's Disease
Published in the American Journal of Human Genetics --


Cambridge, Mass. - July 14, 2011 - Knome, a life sciences company that interprets human genomes to identify the genetic factors that influence disease risk, today announced that its services aided in the discovery of a mutation associated with an inherited form of Parkinson's disease (PD). The research, led by investigators from the University of British Columbia (UBC), leveraged recent advances in human exome sequencing and bioinformatics analysis to identify a mutation in vacuolar protein-sorting associated protein 35 (VPS35) as a genetic determinant of late-onset PD. Their findings were published online on July 14 and in the July 15 issue of the American Journal of Human Genetics.


"Knome thoroughly characterized both known and novel variants in these genomes. Their analysis helped clarify which variants were most important, greatly accelerating our discovery," said Carles Vilariño-Güell, Ph.D., of the Brain Research Center at UBC and lead author of the paper. "Overall, the findings support a new scientific understanding that common and serious diseases like PD can be due to rare genetic variants."


To help Vilariño-Güell find the novel variant that predisposes to late-onset PD in a Swiss family, Knome thoroughly sequenced and interpreted more than 20,000 genes in two first cousins. After richly annotating genetic spelling variants in these genes and comparing these differences to those found in other genomes, Knome helped the researchers home in on a shortlist of suspect variants. The study's investigators found that seven other PD-stricken family members shared a variant that alters the VPS35 protein, part of the retromer complex that helps nerve cells recycle worn-out proteins. Subsequent screening showed that the newly found VPS35 variant is also found in other PD patients - but not in thousands of healthy controls - from Israel, North America, Taiwan and Tunisia. The findings strongly implicate the VPS35 variant in some familial cases of PD and should boost interest in the retromer complex as a potential target for nerve disease treatments.


"The findings further validate Knome's genome interpretation technology, highlighting how researchers are using it to make key discoveries in medical genetics," said Jorge Conde, co-CEO of Knome. "Such work heralds a new era of whole genome and exome studies that leverage powerful comparative analysis to genetically dissect diseases like Parkinson's, helping to understand their causes and sparking new ideas for treatments."


The study, titled "VPS35 Mutations in Parkinson's Disease," is available online at


About Knome

Based in Cambridge, Mass., Knome is a life sciences company dedicated to the functional interpretation of the human genome, helping scientists and private clients identify the genetic factors that influence disease risk, cancer progression and drug response. Underlying Knome's services is kGAPTM 2.0, the company's proprietary genome interpretation engine that harnesses the scalability of cloud computing to simultaneously parse, annotate and compare hundreds of genomes. By automating the process of genome interpretation, Knome is able to derive actionable insights in record time. For more information, please visit



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