On The Spot e-News
Volume 3, Issue 9 | October 2008
In this issue:
- Signature Launches Publicly Available Genome Browser
- Researchers at Signature Characterize Previously Unrecognized Genetic Disorder
- Signature Announces Appointment of New Laboratory Director
- Signature at NSGC Annual Conference
Signature Launches Publicly Available Genome Browser
Signature has made its Genoglyphix® Genome Browser available to the public.
Previously available only through Signature’s Genoglyphix service, which allows hands-on analysis and interpretation of test results generated using Signature microarray technology, the Genoglyphix Genome Browser can be navigated and searched by genomic coordinates, chromosome band, or gene name to quickly and precisely access any genomic region of interest. The browser shows the syndromes and genes in any region, and links to the RefSeq, Online Mendelian Inheritance in Man (OMIM ), and PubMed databases provide access to the latest research available online. Through the browser, users can also access the Database of Genomic Variants to identify common copy number variants.
Visit our website to see how your laboratory can use the Genome Browser for microarray analysis.
Researchers at Signature Characterize Previously Unrecognized Genetic Disorder
Researchers at Signature Genomic Laboratories recently reported two individuals with microscopic losses of DNA from the long arm of chromosome 16 and suggested this deletion represents a previously unappreciated syndrome.
In the study, published in the journal Clinical Genetics, the two individuals with deletions of the long arm of chromosome 16 were identified among more than 22,000 patients with unexplained mental retardation and birth defects referred to Signature for testing. Both patients' deletions encompassed the gene SALL1 , mutations of which are hypothesized to cause Townes-Brocks syndrome, a rare autosomal-dominant condition characterized by anal, renal, limb, and ear malformations. However, neither individual had clinical features suggestive of Townes-Brocks syndrome, and their common clinical features, as well as those of individuals in another report, suggested deletions of this segment of chromosome 16 represented a distinct, emerging syndrome.
"Although further studies are required to determine what role these deletions play in the patients’ clinical features, microarray analysis was essential for identifying this novel chromosome abnormality. Their highly variable clinical features—and the rarity of similar patients reported in the literature—would have prevented their identification without this technology," said Dr. Blake C. Ballif, Ph.D., Director of Product Development and Research at Signature and lead author of the study. "These cases are an excellent example of how microarray technology can provide answers that traditional methods cannot."
Signature Announces Appointment of New Laboratory Director
Signature Genomic Laboratories has appointed Roger Schultz, Ph.D., as Laboratory Director.
Dr. Schultz was previously the Associate Director of Cytogenetics of Veripath Laboratories at the University of Texas Southwestern, capping a 15-year appointment at the university. Dr. Schultz’ research there focused on the roles of genome stability and DNA repair mechanisms in human disease; he has co-authored over 70 scholarly articles on the subjects. Dr. Schultz received his Ph.D. in Genetics at Michigan State University and completed his postdoctoral fellowship at Stanford University School of Medicine.
"Dr. Schultz brings to Signature an impressive record in the field of cytogenetics, with many years’ experience making diagnoses for patients with chromosome abnormalities and mental retardation and birth defects," said Lisa G. Shaffer, Ph.D., President and CEO of Signature. "His appointment enables Signature to continue offering timely diagnoses for the rapidly growing number of patients we test."
Dr. Schultz joins Signature Laboratory Directors Beth Torchia, Ph.D., Gail Wenger, Ph.D., Trilochan Sahoo, M.D., and Julie Biggerstaff, Ph.D..
Visit Signature at National Society of Genetic Counselors Annual Education Conference
Signature Genomic Laboratories will be at the National Society of Genetic Counselors (NSGC) Annual Education Conference, Oct. 23-28 in Los Angeles, California. Stop by our booth or attend a platform presentation to meet members of the Signature team and learn more about the power of Signature microarrays.
- Exhibitor Booth 6
- Platform Presentation: Understanding Clinical Applications for array CGH in Prenatal Medicine. Saturday, Oct. 25th, 4:45-5:00 p.m., Westside Room.