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Last updated February 22ND, 2012


2012 Phelan-McDermid Syndrome Foundation

International Family Conference and Scientific Symposium

July 25-28

CONFERENCE REGISTRATION IS NOW OPEN

Click Here for more details
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Post-Doctoral Fellowship To Dr. Oleksandr Shcheglovitov

 

The Phelan-McDermid Syndrome Foundation is pleased to announce it is co-funding a post-doctoral fellowship to Oleksandr Shcheglovitov, Ph.D.  through a partnership with the Autism Science Foundation. Dr. Shcheglovitov is a post-doctoral fellow in the lab of Ricardo Dolmetsch, Ph.D., at Stanford University.

Dr. Shcheglovitov’s project will seek to identify cellular and molecular abnormalities associated with neurological defects in patients with Phelan-McDermid Syndrome (PMS) and autism spectrum disorders. As starting material he used skin cells collected from patients with PMS. He reprogrammed skin cells into induced pluripotent stem cells (iPSCs) and then iPSCs into neurons. Studying properties of iPSCs-derived neurons from patients and controls, he is aiming to find the source of the problems at cellular and molecular levels.

Results of the proposed research will substantially advance our current understanding of neurobiology associated with PMS and ASDs in humans and the role of different genes in development of specific cellular abnormalities. In addition, this project will provide valuable insights into potential
therapeutic targets that may reverse the neurological problems in patients with PMS and ASDs.

 

Learn more about Dr. Shcheglovitov's life story.

 

 

 
 
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2012 Conference Location


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$22 for 22q in 22 Days

We’re up and running in 2012!  It’s a conference year which means our fundraising revenue is usually higher than in non-conference years.  As you can see above, the amount raised in 2011 was nearly $90,000.  Our goal this year is $125,000 for the $22 for 22q in 22 days campaign.

Have you participated in this fundraiser?  More than 100 families have over the past two years.  To those of you that have helped pull in fundraising revenue recently for the Foundation through the $22 campaign or any other event....thank you, thank you, thank you!  We also very much appreciate the personal contributions that many of you have made.

We need EVERYONE to help with foundation fundraising.  If you did the $22 campaign in 2010 and not in 2011 your friends and family are probably wondering why you didn’t ask again.  If you haven’t done the $22 fundraiser please continue on for more information on how this works.  Better yet…..reach out to the Foundation office and speak with Sue, Barbara or Cheryl for a “cliff notes” conversation on how to move forward with your own campaign.  It really is easy!  Do it for the child you know with PMS.  Our kids are counting on us!
(read more).

Kurt Koester – Kylie’s Dad

Urbandale, Iowa
Fundraising Committee Chair

Phelan-McDermid Syndrome Foundation

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