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Phelan-McDermid Syndrome Website Update

Phelan-McDermid Syndrome Website Update

by Diane Linnehan, PMSF Director of Operations The new PMSF website launched on August 11th! With the help of our amazing…

Continue ReadingPhelan-McDermid Syndrome Website Update
Research Roundup, August 2021

Research Roundup, August 2021

A monthly digest of publications regarding Phelan-McDermid syndrome. by Kate Still, Ph.D., PMSF Scientific Director A push towards Whole Genome Sequencing…

Continue ReadingResearch Roundup, August 2021
Maria runs for John

Maria runs for John

We are so thankful to Maria Punzo, who recently completed the Queens Half Marathon in honor of her nephew, John Welsh.…

Continue ReadingMaria runs for John
Dad and Daughter Roadtriip raises funds for PMSF

Dad and Daughter Roadtriip raises funds for PMSF

Hello PMS Families. I am Patrick (PJ) father of Olivia the Cutest, age 17. Olivia was diagnosed with PMS in 2004…

Continue ReadingDad and Daughter Roadtriip raises funds for PMSF
PMS Natural History Study is OPEN

PMS Natural History Study is OPEN

By Katherine Still, Ph.DScientific Director Open enrollment for the Phelan-McDermid syndrome (PMS) Natural History Study The Natural History study is a…

Continue ReadingPMS Natural History Study is OPEN
Planting Seeds for the Future Summer 2021 Fundraiser

Planting Seeds for the Future Summer 2021 Fundraiser

By Shira JohnsonDirector of DevelopmentWe are excited to kick off our 2021 Planting the Seeds for Tomorrow Campaign!This year, we are…

Continue ReadingPlanting Seeds for the Future Summer 2021 Fundraiser
International Survey for those living with Phelan-McDermid syndrome

International Survey for those living with Phelan-McDermid syndrome

by Diane Linnehan, Director of Operations One of our PMSF scientific advisors, Conny van Ravenswaaij, MD, Ph.D, a clinical geneticist from…

Continue ReadingInternational Survey for those living with Phelan-McDermid syndrome
PMS Gastrointestinal Research – from Home

PMS Gastrointestinal Research – from Home

By Kathy Fiscus Operations Coordinator Research at HOME? What is a Smurfcake? The University of Miami and Atrium Health are conducting…

Continue ReadingPMS Gastrointestinal Research – from Home
Kate Still PhD

Kate Still PhD

PMSF Welcomes Scientific Director, Kate Still, PhDWe are very pleased to welcome Dr. Kate Still to our team as our full-time…

Continue ReadingKate Still PhD
Stronger for Ben

Stronger for Ben

PMS Mom Working @Stronger_for_Ben   Chardell Buchanan, a Registered Dietitian Nutritionist and PMS mom to Ben help parents of children with…

Continue ReadingStronger for Ben
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Copyright © 2024 Phelan-McDermid Syndrome Foundation. All rights reserved. Any information provided to members or the general public is provided for educational purposes only, and is not intended to replace professional advice from doctors or therapists.

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