On The Spot e-News
Volume 4, Issue 4 | April 2009
In this issue:
- ACMG 2009 Annual Meeting Recap
- ACMG Signature Genomic Laboratories Travel Award Winner
- Signature Welcomes Lab Director Trilochan Sahoo, MD
ACMG 2009 Annual Meeting Recap
Signature thanks all the attendees at the American College of Medical Genetics (ACMG) 2009 Annual Clinical Genetics Meeting who dropped by our booth, visited a poster, or attended a presentation. This year’s conference was a great success!
Two members of the Signature team presented at Signature-sponsored exhibition theater workshops.
At the first workshop, Jill Rosenfeld, MS, Research Project Coordinator at Signature, discussed how users can access Signature’s web-based, searchable Genoglyphix Chromosome Aberration Database (GCAD), a repository of aberrations identified using SignatureChip® microarrays, to find potential study subjects and collaborate with physicians for research projects. GCAD contains information on over 7,700 copy number gains or losses identified in over 6,600 individuals, more than 5,400 of whom are probands. Information on GCAD can easily be searched by such criteria as indication for study, patient sex, inheritance, presence of gain or loss, and affected band. Genoglyphix allows easy access to other resources to aid in research related to these abnormalities. GCAD is an important tool for collaborative research in areas in which array CGH is rapidly detecting novel chromosome abnormalities related to specific physical, developmental, and behavioral anomalies including autism.
Individuals interested in collaborative research with Signature may contact Jill Rosenfeld at rosenfeld@signaturegenomics.com.
At the second workshop, Sarah Alliman, MS, a Genetic Counselor at Signature, discussed the benefits of high-resolution microarray analysis for the detection of clinically relevant chromosome abnormalities in prenatal specimens. She presented the results from whole-genome array-based comparative genomic hybridization (aCGH) analysis using either bacterial artificial chromosome (BAC)-based or oligonucleotide (oligo)-based microarrays performed on 182 prenatal cases from North American healthcare providers without previously known chromosome abnormalities or family history of a parent with a known chromosome rearrangement. Whole-genome prenatal aCGH demonstrated detection of clinically significant chromosome abnormalities not detectable by karyotyping without an increase in the detection rates of unclear results or benign CNVs compared to targeted aCGH. Most aCGH abnormalities were present in specimens that had abnormal ultrasound findings indicating this clinical population might benefit most from high-resolution testing.
ACMG Signature Genomic Laboratories Travel Award Winner
Kathy M. Chun, PhD, FACMG was honored as the 2009 recipient of the Signature Genomic Laboratories Travel Award at the ACMG 2009 Annual Meeting. Dr. Chun is Director, Cytogenetics and Molecular Genetics at the North York General Hospital in Toronto, Canada. Dr. Chun received her PhD from the University of Toronto in Biochemistry.
A new award in 2008, the Signature Genomics Travel Award is given to a selected student, trainee or junior faculty ACMG member whose abstract submission was chosen as a platform presentation during the ACMG Annual Clinical Genetics Meeting. The ACMG program committee selects the Travel Award recipient based on scientific merit. In recognition of the selected presentation, Signature Genomics covers the travel costs for the recipient to the ACMG meeting.
"The American College of Medical Genetics Foundation is grateful to Signature Genomics for their generous support of up-and-coming medical genetic researchers through the Signature Genomics Travel Award," said R. Rodney Howell, MD, FACMG, president of the ACMGF.
"Signature supports the recognition of outstanding young researchers in the field of medical genetics," said Lisa G. Shaffer, PhD, president and CEO of Signature Genomics. "We are proud to be sponsoring this award."
Signature Welcomes Laboratory Director Dr. Trilochan Sahoo, M.D.
Signature Genomic Laboratories has appointed Trilochan Sahoo, M.D., as a Laboratory Director.
Prior to joining Signature, Dr. Sahoo spent six years as an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, Texas. Dr. Sahoo received his M.D. in Clinical Microbiology from Christian Medical College and Hospital, Vellore, India and completed his post-doctoral training at the Government of India Department of Biotechnology and the Duke University Medical Center Departments of Microbiology and Genetics. Dr. Sahoo is certified by the American Board of Medical Genetics in Clinical Cytogenetics and completed his training under Signature President and CEO Lisa G. Shaffer, Ph.D. during her tenure at Baylor.
"Having worked with Dr. Sahoo for several years prior to his appointment at Signature, I know he is is well-regarded in the field of cytogenetics and will bring to Signature considerable expertise," said Lisa G. Shaffer, Ph.D., President and CEO of Signature. "The addition of Dr. Sahoo ensures our team of board-certified laboratory directors will be able to meet the growing diagnostic demands of our company."
Dr. Sahoo joins Signature Laboratory Directors Beth Torchia, Ph.D., Roger Schultz, Ph.D., Allen Lamb, Ph.D., and Gail Wenger, Ph.D.