Main Category: Autism
Also Included In: Genetics
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RainDance Technologies, Inc., today announced the commercial availability of the ASDSeq™ and XSeq™ Research Screening Panels. Developed in collaboration with Emory University and Greenwood Genetic Center, the two comprehensive panels enable researchers to simultaneously interrogate key genes known to be linked to X-chromosome disorders and syndromic forms of Autism Spectrum Disorder (ASD) using next-generation sequencing. The announcement was made at the 20th Annual Clinical Genetics Meeting (ACMG) in Vancouver, British Columbia, Canada.
"The RainDance panels enable us to apply next-generation sequencing more routinely to projects focused on the specific genetic mutations that contribute to autism and other X-linked disorders."
Recent scientific findings indicate there are more than 800 protein-coding genes on the X chromosome, including many that play a role in autism and other developmental disorders1,2. To date, the widespread investigation of these genes has been constrained by the high experimental cost of current methods and inadequate analytic resolution. Commonly used technologies, such as microarrays and real-time PCR, have made it difficult to detect many of the important sequence mutations associated with these complex disorders. The RainDance ASDSeq™ panel and XSeq™ panel are based on the company's proven microdroplet-based targeted sequencing technology, which features the industry's leading coverage for detecting mutations central to understanding these types of disorders.
"Whole-genome and whole-exome sequencing methods are still too expensive; the large amount of data is difficult to manage in a clinical laboratory; and hybridization-based capture methods lack the required genomic coverage and specificity to target many of these important genes," said Madhuri Hegde, Ph.D., FACMG, Senior Director of Emory Genetics Laboratory and Associate Professor in the Department of Human Genetics, Emory University School of Medicine. "The RainDance panels enable us to apply next-generation sequencing more routinely to projects focused on the specific genetic mutations that contribute to autism and other X-linked disorders."
ASDSeq™ Panel
The RainDance ASDSeq Research Screening Panel uses next-generation DNA sequencing to offer more than 92 percent design coverage across 62 genes that contain mutations known to be associated with ASD. Covered gene targets include all exons for each gene, 1 kilobase of the 5-prime promoter region and 3-prime untranslated regions (UTRs), as well as 50 bases upstream and downstream of each exon to capture intron/exon splice junctions. The genes represented in the ASDSeq panel include autosomal (BRAF, FMR1, FOLR1, PNKP, PTPN11, SLC2A1, TCF4 and ZEB2) as well as X-linked (HPRT and NHS) forms of the disorders.
"With an estimated 1.5 million Americans living with the effects of autism, getting to the genetic underpinnings of this complex condition is one of the critical healthcare research challenges of our time," said Michael Friez, Ph.D., Director of Diagnostic Laboratories at the Greenwood Genetic Center. "As an organization dedicated to the practical application of medical advances to the care and treatment of families impacted by genetic disease and birth defects, we are encouraged by the potential contribution these innovative panels will have on the growing number of critical research projects being conducted around the world."
XSeq™ PanelThe RainDance XSeq Research Screening Panel also utilizes next-generation DNA sequencing to offer more than 98 percent coverage of the more than 1,000 genes encoded on the gene-rich human X chromosome3. This includes more than 600 genes that have yet to be associated with a Mendelian disease and all known Mendelian disorder genes. Coverage includes all exons, the 5-prime promoter region and 3-prime UTR for each gene. A few of the commonly sequenced genes represented in the XSeq panel, which can be sequenced together in a single powerful assay method, include ALD, DMD, FMR1, GLA and IL2RG.
"For the first time, we have access to a cost-effective solution that allows us to use next-generation sequencing to simultaneously interrogate more than 1,000 genes on the X chromosome," said Michael Zwick, Ph.D., Assistant Professor, Emory University. "This allows us to generate accurate, consistent and reproducible data at a fraction of the overall sample cost compared to previous sequencing methods."
Roopom Banerjee, CEO of RainDance Technologies, added, "These two research panels are excellent examples of how RainDance is collaborating with leading scientific institutions to bring powerful genetic research solutions to projects that will expand our understanding of complex genetic disorders."
2011 ACMG Annual Clinical Genetics Meeting
RainDance will discuss the ASDSeq and XSeq Research Screening Panels during its Exhibitor Theater presentation at the ACMG meeting on March 18 at 11:35am PT in Theater 1. The company will also be demonstrating its microdroplet platform in its exhibition booth (#533). Emory Genetics Laboratory (#215) and Geenwood Genetic Center (#109) will also be exhibiting at the meeting.
References
1 . Ross et al. (2005). The DNA sequence of the human X chromosome. Nature. Mar 17;434(7031):325-37.
2 . Tarpey et al. (2009). A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. May;41(5):535-43.
3. Ibid.
Source.
RainDance Technologies, Inc.
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