"This is a very good, targeted conference, provides valuable information and updates for people working or interested in the field"

--Signature Scientific Microarray Conference attendee

Who We Are > Pressroom

Pressroom

News

American Board of Medical Genetics accredits Sacred Heart Medical Center as a Genetics Fellowship Site with Signature Genomic Laboratories as a Partner

Spokane, Wash. – Signature Genomic Laboratories announced it will be a partner site for Sacred Heart Medical Center’s genetics fellowship program, which recently received accreditation from the American Board of Medical Genetics (ABMG). The accreditation allows M.D.s and Ph.D.s to complete a two-year training program in clinical cytogenetics or clinical molecular genetics at Sacred Heart and partner sites Signature Genomics and Inland Northwest Genetics Clinic.

Sacred Heart’s genetics fellowship program is the first without a medical genetics fellowship attached to the laboratory specialties in genetics, which are usually found in university-affiliated hospital fellowship programs, to receive ABMG accreditation.

The availability of microarray testing at Signature was instrumental in the ABMG’s decision to offer accreditation, said Bassem A. Bejjani, M.D., co-director of the molecular diagnostics laboratory at Sacred Heart and chief medical officer at Signature. “This will be the first program in which microarray testing is a major part of the curriculum,” he said. “For Signature to receive accreditation as a partner site demonstrates the ABMG recognizes the role that microarray testing will play in medical genetics.”

Back to top

Signature Genomic Laboratories Makes Genoglyphix Microarray Visualization Program Available to Full-Service Clients

Spokane, Wash. – Signature Genomic Laboratories announced it has made its Genoglyphix® microarray visualization program available to its full-service clients.

Previously available only to laboratories that analyze microarray results using Signature research-use-only microarrays in-house, the HIPAA-compliant Genoglyphix service allows users to visualize microarray test results for their patients over a secure online server. For each patient, the Genoglyphix Genome Browser shows the syndromes and genes in the affected 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.

“One of our primary objectives is to provide medical professionals with the greatest amount of useful information for the medical management of their patients,” said Bassem Bejjani, M.D., Chief Medical Officer at Signature. “Microarrays give us an unprecedented amount of information; the Genoglyphix service allows our clients to access and analyze that information in a user-friendly setting.”

Back to top

Signature Genomic Laboratories Announces Release of Enhanced Microarray for Prenatal Diagnosis

Spokane, Wash. – Signature Genomic Laboratories announced the release of an enhanced microarray for the prenatal detection of chromosome abnormalities that result in missing or extra pieces of DNA.

The first tier of Signature’s Prenatal Service, the enhanced PrenatalChip® targets over 100 discrete chromosomal regions, the gain or loss of which results in a genetic disorder, while minimizing coverage of regions of unknown clinical significance. Signature’s whole-genome microarray, the SignatureChipWG, can be ordered if more coverage is required—especially in cases with abnormal findings by ultrasound.

“Pregnancy can be a time of great anxiety, particularly if a genetic disorder is suspected,” said Justine Coppinger, Certified Genetic Counselor at Signature. “We approach prenatal diagnosis responsibly, balancing timely, comprehensive diagnoses with the desire to minimize anxiety over unclear results. We encourage physicians to discuss the most appropriate test for their patients with our certified genetic counselors.”

Back to top

Allen Lamb, Ph.D. joins the team of Laboratory Directors at Signature Genomic Laboratories

Spokane, Wash. – Signature Genomic Laboratories has appointed Allen Lamb, Ph.D., as a Laboratory Director.

Prior to joining Signature, Dr. Lamb was a Medical Director in the Cytogenetics Laboratory at University of Utah’s ARUP Laboratories and an associate professor of clinical pathology in the Department of Pathology at the University of Utah School of Medicine, following a 16-year tenure at Genzyme Genetics. Dr. Lamb is a founding fellow of the American College of Medical Genetics and is certified by the American Board of Medical Genetics in clinical cytogenetics and clinical molecular genetics. Dr. Lamb received his Ph.D. in Molecular Biology and Biochemistry from Wesleyan University and completed his postgraduate training at the University of North Carolina and Harvard Medical School.

“Dr. Lamb is highly respected in the field of cytogenetics and brings to Signature many years of experience,” said Lisa G. Shaffer, Ph.D., President and CEO of Signature. “The addition of Dr. Lamb ensures our team of board-certified laboratory directors will be able to meet the growing diagnostic demands of our company.”

Dr. Lamb joins Signature Laboratory Directors Beth Torchia, Ph.D., Roger Schultz, Ph.D., Gail Wenger, Ph.D., Trilochan Sahoo, M.D., and Julie Biggerstaff, Ph.D.

Back to top

Signature Genomic Laboratories Announces Appointment of New Laboratory Director

Spokane, Wash. – 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 impressive records 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..

Back to top

Researchers at Signature Characterize Previously Unrecognized Genetic Disorder

Spokane, Wash. – 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.”

Back to top

Signature Genomic Laboratories Named to Inc. 5000

Spokane, Wash. – Signature Genomic Laboratories was named to Inc. magazine's "Inc. 5000" list of the fastest-growing private companies in the country. The Spokane-based company, which provides microarray-based diagnostic genetic testing for individuals with mental retardation/developmental delay, autism and birth defects, was ranked 114 overall and 5th in the Health sector, with 1,766.4% three-year growth from 2004 to 2007. Signature was ranked 1st overall in Spokane and 4th in the state of Washington.

Commented Lisa G. Shaffer, Ph.D., President and CEO of Signature, "We are honored to be recognized for our well-planned strategic growth, which we have accomplished while maintaining the level of personal service and technical expertise on which our reputation was built."

The 2008 Inc. 5000 list measures revenue growth from 2004 through 2007. To qualify, companies must be U.S.-based and privately held, for profit, independent—not subsidiaries or divisions of other companies—as of December 31, 2007, and have had at least $200,000 in revenue in 2004, and $2 million in 2007.

Founded by Drs. Lisa G. Shaffer, Ph.D. and Bassem A. Bejjani, M.D. in 2003, Signature was the first laboratory to provide microarray-based diagnostic testing of individuals with mental retardation and birth defects with its proprietary SignatureChip®. Opening its doors with three employees, Signature began offering testing in March of 2004, and by August of that year was making a profit. In 2006, Signature posted over $9 million in revenue; the company posted $13.5 million in revenue in 2007. In 2007, Signature began offering research-use-only microarrays for sale to laboratories for in-house use. In 2007, Ampersand Ventures, a private equity firm focusing on investments in the health care and industrial technology sectors, and in 2008 jVen Capital, a life sciences investment company with a focus in the areas of biotechnology, diagnostics, and medical devices, acquired stakes in Signature. In June, Signature relocated to a new 18,000-square-foot facility in north Spokane; the new headquarters provides the wet-laboratory and administrative space necessary to accommodate Signature's rapid growth. Signature now has 76 employees and has processed over 25,000 cases since its inception.

"Our second annual Inc. 5000 continues the most ambitious project in business journalism," said Inc. 5000 Project Manager Jim Melloan. "The Inc. 5000 gives an unrivalled portrait of young, underreported companies across all industries doing fascinating things with cutting-edge business models, as well as older companies that are still showing impressive growth."

"It's the first time in my life I've ever received thank-you notes from families because we are able to give them answers," said Shaffer. "We're truly making a difference in their lives."

Back to top

Shaffer, of Signature Genomic Laboratories, Named Top Female CEO

Spokane, Wash. - Inc. magazine ranked Lisa G. Shaffer, President & CEO of Signature Genomic Laboratories, 8th on its list of top female CEOs in the fastest-growing private companies in America. The list was released in conjunction with the magazine's "Inc. 5000," naming the 5,000 fastest-growing private companies in America; Signature Genomic Laboratories was ranked 114 overall.

Dr. Shaffer co-founded Signature in 2003 with Bassem A. Bejjani, M.D. Dr. Shaffer developed a microarray-based method for detecting submicroscopic segments of missing or extra DNA in individuals with mental retardation and birth defects. Signature opened its doors with three employees and began offering diagnostic testing in 2004; the company now employs 76 and to date has processed over 25,000 clinical cases.

Commented Dr. Bejjani, Chief Medical Officer of Signature, "In the midst of a very successful academic career that would satisfy any professional, male or female, Dr. Shaffer undertook an enormous professional and personal risk and entered the private sector to pioneer the use of a technology that was untested in the clinical setting at that time. Having closely worked with Dr. Shaffer for 13 years, I know that she is never less than perfect in her endeavors. Therefore, although this is a highly exclusive list, I am not surprised to see Dr. Shaffer's name on it."

Evan Jones, Chairman of the Board of Directors of Signature Genomic Laboratories, commented, "Lisa Shaffer has done an outstanding job building Signature into a leading genetic testing business in just four years. Congratulations to Lisa and the entire Signature team for this important recognition from Inc."

Dr. Shaffer is an internationally respected expert on the chromosomal basis of human genetic disease. Currently she is the North American Editor for the journal Molecular Cytogenetics, and on the editorial boards of the journals Genetics in Medicine, Prenatal Diagnosis, and Cytogenetics and Genome Research. Dr. Saffer has authored over 200 scholarly articles and almost two dozen book chapters. She is the chair of the International Standing Committee on Human Cytogenetics Nomenclature (ISCN) and is a Board member and the Treasurer of the American College of Medical Genetics. Dr. Shaffer received her B.S. in Biology from Washington State University and her Ph.D. in Human Genetics at the Medical College of Virginia.

Signature Genomic Laboratories Signs Long-Term Supply Agreement with Agilent Technologies for Oligo Microarrays

SPOKANE, WA and SANTA CLARA, Calif., May 15, 2008 - Signature Genomic Laboratories, LLC (Signature) and Agilent Technologies, Inc. (NYSE: A), today announced they have signed a long-term supply agreement in which Agilent will supply custom oligonucleotide microarrays based on the Signature-designed SignatureChip Oligo SolutionTM (SignatureChipOSTM) to Signature and its customers.

Terms of the agreement were not disclosed.

The SignatureChipOS is designed for the detection of chromosome abnormalities in individuals with mental retardation/developmental delay, autism and congenital anomalies. The 105,000-feature, 60-mer microarray covers over 150 syndromes, the subtelomeric and pericentromeric regions, and more than 500 genes in important developmental pathways. "We are committed to giving our customers the best services and technology available, and this agreement reflects this focus," said Lisa G. Shaffer, Ph.D., President and CEO of Signature. "Oligo arrays have improved dramatically in the past few years and we are delighted there are now oligos that meet our high standards. This supply agreement also allows our Genoglyphix¨ customers the opportunity to use high quality oligo arrays for research applications in their laboratories."

We're very pleased about this agreement, which is the latest example of how the marketplace is recognizing the value of our highly-flexible, high quality oligo synthesis capability," said Yvonne Linney, Ph.D., Agilent Vice President and General Manager, Genomics. "We're delighted to work with Signature Genomic Laboratories who specialize in microarray technology, and is an innovative leader in microarray testing."

Back to top

Signature Reports Investment in Company and Appointment of New Chairman of Board of Directors

Spokane, Wash. - Signature Genomic Laboratories, LLC announced today that jVen Capital, a life sciences investment company with a focus in the areas of biotechnology, diagnostics, and medical devices, has acquired an equity interest in the company. In conjunction with the investment Evan Jones, the principle of jVen Capital, has been appointed Chairman of Signature's Board of Directors.

Prior to establishing jVen Capital in 2007, Mr. Jones was co-founder and Chairman of the Board of Directors of Digene Corp., a publicly traded biotechnology firm that specialized in DNA-based diagnostic tests for human papillomavirus (HPV), the virus that causes cervical cancer. Mr. Jones served as CEO of Digene from 1990 to 2006 and President from 1990 to 1999. Digene was purchased by Qiagen in 2007 for $1.6 billion.

Paul R. Billings, M.D. Ph.D., the outgoing Chairman of Signature's Board of Directors, commented, "We are excited to have Evan join the Board of Directors at Signature. Evan has a proven reputation directing and investing in life sciences companies, and we are confident that Evan will apply that acumen to facilitating Signature's growth."

Mr. Jones commented, "I am enthusiastic about joining the Signature team. Since the company's founding five years ago Signature has become the leading provider of microarray-based DNA diagnostic testing. It's an exciting opportunity to be involved with such a strong team and to have the opportunity to help the company capitalize on its unique market position in the emerging fields of molecular genetics and personalized medicine."

Mr. Jones is currently Chairman of the Board of Directors of the Children's Research Institute at the Children's National Medical Center; Chairman of the Campaign for Public Health, an independent, not-for-profit organization dedicated to increasing the budget for the Centers for Disease Control and Prevention; a member of the Board of Directors and the Executive Committee of Research!America, an organization advocating increased funding for medical research; and a member of the board of the Friends of the National Library of Medicine. Mr. Jones received a B.A. in Biochemistry from the University of Colorado and an M.B.A. from The Wharton School at the University of Pennsylvania.

Back to top

Researchers at Signature Characterize Previously Unreported Microduplication

Spokane, Wash. - Microscopic deletions of chromosome 3q29 have been described recently in individuals with mental retardation and highly variable clinical features. All individuals reported to date have the same-sized deletion. Because this region of chromosome 3 is thought to be caused by recombination between flanking segments of highly repetitive DNA sequences, duplications of 3q29 should occur with the same frequency as deletions. However, with the exception of one three-generation family, no individuals with microduplications of 3q29 have been reported. Researchers at Signature Genomic Laboratories recently characterized 19 individuals with 3q29 microduplications and suggest that duplication alone may not account for the clinical features in those individuals.

In the study, published in the journal Molecular Cytogenetics, researchers identified 19 individuals with microduplications of 3q29 in almost 20,000 individuals with unexplained mental retardation and congenital anomalies referred to the laboratory for microarray testing. The clinical features of the individuals varied widely, with mental retardation the only feature common to all patients. Surprisingly, only five individuals had reciprocal duplications that were the same size and location as the 3q29 microdeletion; the remaining 14 duplications flank, span, or partially overlap the common deletion region. This suggests other factors besides the segmental duplications that cause the common-sized 3q29 deletions play a role in rearrangements of this region. Because some of the duplications were inherited from a clinically normal parent, the clinical significance of these duplications is unclear and may require an as-yet unidentified genetic modifier for medical problems to occur.

"Although further studies are required to determine what role, if any, these duplications play in the patients' clinical features, microarray analysis was essential for identifying this novel chromosome abnormality. Their highly variable clinical features-and the lack 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."

Back to top

Ampersand Ventures Invests in Signature Genomic Laboratories

Spokane, Wash., 23 January 2008 - Ampersand Ventures, a private equity firm focusing on investments in the health care and industrial technology sectors, has acquired a stake in Signature Genomic Laboratories, LLC. In conjunction with the investment, Ampersand partners David J. Parker and Herbert H. Hooper, Ph.D. have been appointed to Signature's board of directors. They join current board members Lisa G. Shaffer, Ph.D., Signature's president and CEO; Bassem A. Bejjani, M.D., Chief Medical Officer of Signature; and Ryland "Skip" Davis, Chief Executive of Providence Strategic Ventures, a division of Providence Health and Services. Ampersand joins Sacred Heart Medical Center and Pathology Associates Medical Laboratories as investors in the company.

"We are very excited about Ampersand partnering with us because they will allow Signature to position itself favorably in this growing market," said Dr. Shaffer. "With both Ampersand's and Providence's experience in the clinical laboratory services industry, we are in an excellent position to identify new partners for strategic growth."

Mr. Parker commented, "We are pleased to have the opportunity to support Signature's growth in the rapidly evolving market for microarray-based cytogenetic testing. Signature has established an attractive, growing business in this market through its strong clinical expertise, high-quality customer service and superior technology implementation. We look forward to working with Signature's management team to help take the company to the next level."

Back to top

Signature microarray covers regions of the genome associated with autism

Spokane, Wash., 10 January 2008 - Signature Genomic Laboratories' flagship microarray, the SignatureChip Whole GenomeTM (SignatureChipWGTM), covers a region of the human genome that was recently associated with autism.

A story in the New York Times published Jan. 10 reports on a study by researchers from the Autism Consortium showing approximately 1% of individuals with autism have missing a small segment of the short arm of one of their chromosomes 16. The study, originally published in the New England Journal of Medicine, corroborates findings published last month in the scientific journal Human Molecular Genetics, in which researchers from the University of Chicago and Roswell Park Cancer Institute in Buffalo, N.Y. identified similar deletions in two children with autism.

The SignatureChipWG, the latest version of Signature's proprietary SignatureChip microarray, has extensive coverage of this region of chromosome 16. Since the introduction of the SignatureChipWG in November, Signature has recorded seven losses and four gains of the autism region among 1,283 cases tested.

In addition to the region recently reported, the SignatureChipWG covers over 30 regions of the genome associated with autism.

Back to top

Microdeletion syndrome discovered by Signature profiled in New York Times

Spokane, Wash., 10 January 2008 - Two children with a genomic disorder first reported by researchers at Signature Genomic Laboratories, LLC were recently profiled by the New York Times.

The two children were among four individuals referred to Signature for genetic testing who were diagnosed using the SignatureChip targeted microarray with a submicroscopic deletion on the short arm of chromosome 16. The syndrome, the clinical features of which include mental retardation, distinct facial features, short stature, heart defects and feeding difficulties, was first decribed in the scientific journal Nature Genetics in an article titled "Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2." The Times story describes how the girls' families, both of which reside in Kentucky, met following publication of the research paper; for both families, it was the first time they had met another individual with this rare chromosome abnormality.

"I think this is the kind of story we will hear about more often as microarray technology becomes more widely used," said Dr. Lisa G. Shaffer, PhD, Chief Executive Officer and Director of Signature Genomic Laboratories. "Some of these families have been searching for years for what is causing their children's health problems, and microarrays are finally able to give them answers."

Back to top



Educational Tools




877.SIG.CHIP (877.744.2447) or 509.474.6840  •  info@signaturegenomics.com

Signature Genomic Laboratories was the first laboratory to provide microarray based cytogenetic diagnostics with its proprietary SignatureChip® and is the leader in providing microarray based chromosome analysis. Signature's worldwide client base includes clinical geneticists, neurologists, pediatricians, neonatologists, obstetricians, and the research community.