I would like to but have a patient scheduled at the same time. Will it be available (stored) so we can review at a different time. Merlin




Merlin G. Butler, MD, PhD, FFACMG
Director, Division of Research
Professor of Psychiatry, Behavioral Sciences and Pediatrics
ABMG Certified Clinical Geneticist and Clinical Cytogeneticist 

Departments of Psychiatry & Behavioral Sciences and Pediatrics
Kansas University Medical Center
3901 Rainbow Boulevard, MS 4015
Kansas City, Kansas  66160
Phone: (913) 588-1873
Fax: (913) 588-1305
E-mail: [log in to unmask]
>>> "Whitehead, Shona R. (HSC)" <[log in to unmask]> 4/5/2012 12:58 PM >>>

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
 


Heartland Clinical Services Work Group Meeting

Join us for a Webinar on April 6



Reserve your Webinar seat now at:
https://www4.gotomeeting.com/register/133402223

Dr Klaas Wierenga will present and give a demonstration of the online SNP array evaluation tool that can be used to identify autosomal recessive conditions in the offspring of consanguineous unions.

 
Title:Heartland Clinical Services Work Group Meeting
Date:Friday, April 6, 2012
Time:9:00 AM - 10:00 AM CDT

 
After registering you will receive a confirmation email containing information about joining the Webinar.

 
System Requirements
PC-based attendees
Required: Windows® 7, Vista, XP or 2003 Server

Macintosh®-based attendees
Required: Mac OS® X 10.5 or newer