Research -  Research Update - 09/07/2017 (109 views) Notify me whenever anyone posts in this discussion.Subscribe
 
From: jasonclk02Sep-8 11:39 PM 
To: All  (1 of 1) 
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This is Jason Clarke of the Potter's Syndrome Research Group at the University of Iowa. It's been a long time since I've posted and I've since had to resort to a slightly different screen name because I can't remember my old password to this forum. I am formerly from the University of Michigan where I started the Potters/BRA project and joined this forum. In 2007 we moved our lab to the University of Iowa. You may be able to search the archives of this forum and find all of my old posts under the user name jasonclk. I am also the author of the Wikipedia pages about Potter Sequence and Renal Agenesis. 

To begin with, we are the main laboratory in the United States conducting research on Potter Sequence with a specific focus on Bilateral Renal Agenesis. After over a decade of research we have found one gene that has caused both URA and BRA in two unrelated families - GREB1L. GREB1L is important for activating Retinoic Acid Receptors, which are necessary for proper renal development. 

We have published our research and the manuscript can be found here: https://www.ncbi.nlm.nih.gov/pubmed/28739660 . This is the first time that a gene has been discovered to be the cause of renal genesis, both unilateral and bilateral, in humans.

Please share this publication with your physicians and genetic counselors. At this time you may not be able to access the publication for free but your health care providers should be able to. 

Just so you know, we are not done with our research. There are still many genes that might be the cause of Renal Agenesis, GREB1L is just one of them. 

If you have questions I can be reached here on this thread or you can contact me at jason-clarke@uiowa.edu .

I want to thank the people that have participated in our research thus far, and I want you all to know that our research is not over. We will keep looking for other genes that cause renal agenesis.

Respectfully,

Jason Clarke

 
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