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description=The study described below was published in the April 2012 edition of the Annals of Neurology, the journal for the American Neurological Association and the Child Neurological Society. At a time when many people are asking when DNA sequence information will have a real application in healthcare, a nonprofit organization based in Brooklyn, New York,… Read more Scientific Collaborators in New York and Jerusalem Uncover New Mutation Underlying Rare Sensory Disease;

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collaborators in new york and jerusalem uncover new mutation underlying rare sensory disease the study described below was published in the april 2012 edition of the annals of neurology the journal for the american neurological association and the child neurological society at a time when many people are asking when dna sequence information will have a real application in healthcare a nonprofit organization based in brooklyn new york is proving that linkage mapping and exome sequencing are already making a major difference in people s lives bonei olam is charged with helping families with genetic or undiagnosed diseases many of them dealing with infertility challenges to conceive healthy babies using tools such as pre implantation genetic diagnosis in 2008 bonei olam opened its center for rare jewish genetic disorders to find the underlying molecular causes of some of these conditions they responded to hundreds of families who had been unable to find a diagnosis through traditional medical routes and established key collaborations with universities including hadassah medical center in israel to help perform the studies over the years the center has funded snp arrays sanger sequencing variant validation and the sequencing of more than 100 exomes for family after family it was through one of those studies that collaborators from hadassah medical center new york university and bonei olam discovered a novel mutation that leads to a previously uncharacterized disease linked to hereditary sensory autonomic neuropathy a group of disorders with the common theme of loss of function in peripheral sensory nerves this new version is far more severe than its familial dysautonomia cousin and is caused by a mutation in the dst gene which destabilizes the dystonin protein the study called hereditary sensory autonomic neuropathy caused by a mutation in dystonin was published by dr simon edvardson prof orly elpeleg and the rest of their team in the department of genetic and metabolic diseases at hadassah in the april 2012 issue of annals of neurology chaim jalas director of genetic resources and services at the center for rare jewish genetic disorders and a co author on the paper says that this particular project began when two related families approached bonei olam each having lost at least one child to this uncharacterized disease the disorder was lethal all of the affected children three in total died by the age of 2 the team started off with snp arrays to perform linkage analysis in both families and later performed exome sequencing on one of the affected children to find the causative mutation much of the clinical and functional work in the eight month project including identifying the mutated gene and studying its effect in cell lines was led by prof orly elpeleg at hadassah medical center in jerusalem since bonei olam doesn t have an in house bioinformatics team jalas relies for interpretation on various software tools as well as the cloud based storage and analysis platform from dnanexus for this project he uploaded the raw sequence reads to dnanexus and ran the exome analysis tool followed by the variant analysis tool which located the mutation the dst variant that results in an unstable transcript in dystonin a protein used in the cytoskeleton what dnanexus does for us is all the bioinformatics starting from uploading raw reads to performing the alignment the variant calling the annotation and graphical display of the reads on the reference genome jalas says in the past the dnanexus variant analysis tool has been able to find a variant that other software packages have missed he says but he s most confident when two different software packages call the same variant so it s more likely to be real once dnanexus returned the answer jalas shared the data with his collaborators who could log in with their own accounts to review the information finally the research team confirmed the mutation by sanger sequencing since bonei olam isn t your typical research institute the real triumph was not the research finding or the publication of this mutation it s that one of the two families is currently pregnant with a healthy baby jalas says ultimately the success of these studies may prompt bonei olam to move toward whole genome sequencing i think at some point we will do whole genomes jalas says we re looking into a pilot study of families for whom exome sequencing did not find a causative genetic mutation where we know for sure it s a genetic condition paper information hereditary sensory autonomic neuropathy caused by a mutation in dystonin simon edvardson md yuval cinnamon phd avraham shaag phd orly elpeleg md from monique and jacques roboh department of genetic research hadassah hebrew university medical center chaim jalas from bonei olam center for rare jewish genetic disorders channa maayan md from department of pediatrics hadassah hebrew university medical center felicia b axelrod md from department of pediatrics new york university school of medicine doi 10 1002 ana 23524 http onlinelibrary wiley com doi 10 1002 ana 23524 abstract experience dnanexus move beyond genomics learn more share related articles unlocking new frontiers in neuroscience drug discovery with omics and biomarker discovery breakthroughs mda and dnanexus partner to improve neuromuscular patient care and accelerate drug discovery case study highlight differential expression of splicing factor genes most recent clinical diagnostics setting yourself up for success choosing the right omics platform for your diagnostics pipeline meeting where you are at growing with you by darren ames head of solutions science the aligner the bioinformatician s fever dream data nirvana or just a really stable manifest by darren ames head of solutions science building a measurable evidence engine for cell gene and rna therapies by todd oakland svp gm biopharma rx dx dnanexus platform professional services our partners about dnanexus 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