1 / 17

Sue Lomas

Sue Lomas. sue@ pmsf.org. From Idea to IMPACT: Building a Foundation that Inspires Families. Sue Lomas “Sam’s Mom” President Phelan-McDermid Syndrome Foundation. What does Phelan-McDermid Syndrome (22q13 Deletion) look like?. Global delays Absent or delayed speech Sleep Issues

satya
Télécharger la présentation

Sue Lomas

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Sue Lomas sue@pmsf.org

  2. From Idea to IMPACT:Building a Foundation that Inspires Families Sue Lomas “Sam’s Mom” President Phelan-McDermid Syndrome Foundation

  3. What does Phelan-McDermid Syndrome (22q13 Deletion) look like? • Global delays • Absent or delayed speech • Sleep Issues • Gastro Intestinal issues • Seizures • Sensory Issues • Behaviors

  4. Discovery of Deletion 22q13 • Drs. Katy Phelan, Greenwood Genetic Center, South Carolina discovered deletion • Dr. Heather McDermid, University of Alberta, Canada studied the 22 chromosome • In 1992, Drs. Phelan and McDermid collaborate and identify individuals who are missing part of chromosome 22 at the q13 band.

  5. Birth of PMS Foundation • In 1998, first support group meeting held in South Carolina – 22 families attend • Foundation was started as a support for families. • Foundation receives non-profit status in 2003. • ___ • ____

  6. Why do families join the Foundation? • Support • Emotional • Community • Resources • Medical Information • Educational Resources • Legal Resources • Research • Information • Opportunities to participate in research studies

  7. How Foundation Supports Families • Resources • Biennial family conferences • Newsletters • Website • Yahoo & Facebook communication • Regional representatives & gatherings • Fundraisers

  8. Family Support

  9. Family Supported Events… Sammy’s Run Ride forLogan Annie’s Golf Classic

  10. What is PMS’ connection to Autism? SHANK3 deletion / mutation association with Autism • 2000, 22q13 deletion & PDD http://www.ncbi.nlm.nih.gov/pubmed/10735630 • 2000, 22q13.3 deletion & autism http://www.ncbi.nlm.nih.gov/pubmed/11121193 • 2004, 22q13 deletion & autism  http://www.ncbi.nlm.nih.gov/pubmed/15286229 • 2005, SHANK3 implicated in autism   http://www.ncbi.nlm.nih.gov/pubmed/16059935 • 2007, SHANK3 & Autism   http://www.ncbi.nlm.nih.gov/pubmed/17173049

  11. PMS & Autism Statistics Dr. Alex Kolevzon (used standardized autism diagnostic measures) found: • 50% meet strict criteria for autism and 80% have autism spectrum disorder.

  12. Social Media Impact • Facebook & Twitter • Raised awareness • Increased membership worldwide • Families communicate daily • Increased Fundraising

  13. # Diagnosed Cases

  14. Families Attending Conference

  15. Transitioning from family support to family AND research support • Initial mission to support families • Research Support Committee established in 2003 • In 2010, research committee wrote the first strategic plan for science. • ~ 2010 PMS knock out mice began to be developed by researchers • Co-Sponsored symposium at international meeting for Autism research in Philadelphia. • 2011 1st PMS Research Symposium in NYC • 2011 Research grants awarded by Foundation • 2011 PMSF International Registry (PMSIR) launched • 2012 Biosample Collections established for DNS & iPS cells • Held symposium at 2012 biennial conference

  16. The Future… • Continue advocacy, family support, awareness • International growth • Increase fundraising • Additional research: • Registry Growth • Bio Repository • Increased Awareness Among Clinicians • Establish Clinics

  17. Next up - IMACTING Researchers

More Related