There is still time to register! And please share with other genetics colleagues.
Shona R. Whitehead
Program Coordinator
Heartland Genetics and Newborn Screening Collaborative
405-271-8001 ext. 42190
From: Whitehead, Shona R. (HSC)
Sent: Tuesday, April 03, 2012 5:43 PM
To: [log in to unmask]
Subject: Heartland Webinar: An online SNP array evaluation tool to identify autosomal recessive conditions in the offspring of consanguineous unions
Greetings from the HRCC!
The Heartland Collaborative and the Heartland Clinical Services Work Group invite you to join a webinar presentation this Friday, April 6th at 9:00 am (CDT). Dr Klaas Wierenga will discuss and demonstrate a new online search tool, which he co-developed, for use by clinical geneticists looking for candidate genes and associated disorders within regions of homozygosity (ROH). Registration information is below.
Children born into consanguineous or inbred families may be affected with genetic disease somewhat more frequently than children born to unrelated parents. If affected, the disorder tends to be autosomal recessive in inheritance, and may be hard to diagnose. In recent years, the interest in consanguinity has increased due to the advent of new technology, especially the Single Nucleotide Polymorphism (SNP) array. Unlike the oligonucleotide array, the SNP array can detect ROH, allowing the genetics team to zoom in on candidate genes that map to the ROH. We have developed an online search tool, the Genomic Oligoarray and SNP array evaluation tool v1.0 (http://www.ccs.miami.edu/cgi-bin/ROH/ROH_analysis_tool.cgi) that fast tracks the selection of a short-list of candidate genes and associated disorders. This tool is expected to greatly assist the Genetics team in making an accurate diagnosis.
Dr Wierenga is a Medical Geneticist and Associate Professor at the University of Oklahoma Health Sciences Center. He also serves as the Program Co-Director of the Heartland Genetics and Newborn Screening Collaborative and as the Program Director of the Medical Genetics Residency Program.
Please feel free to share the webinar registration information with any of your colleagues who may be interested in learning about this new online tool.
Thanks,
Shona
Shona R. Whitehead
Program Coordinator
Heartland Genetics and Newborn Screening Collaborative
405-271-8001 ext. 42190
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