Study on Phelan McDermid Syndrome
Seventy-five percent of individuals with Phelan-McDermid Syndrome have pure 22q deletions, which are either terminal or interstitial. A terminal deletion involves…
BIO Rare Disease Summit
BIO Rare Disease Summit by Tony Samuel The 2019 BIO Patient & Health Advocacy Summit in Washington D.C. brings together academia,…
PMS Presence at Curating the Clinical Genome Conference 2019
By Emily VandenBoomPMSF Registry Coordinator/Genetic CounselorI had the pleasure of representing the Phelan-McDermid Syndrome Foundation at the annual Curating the Clinical…
Publication: Functional genomics analysis of PMS
by Catherine Ziats, MDResearcher, AuthorBelow is a summary of our research article entitled ‘Functional genomics analysis of Phelan-McDermid syndrome 22q13 region…
PMSF collaborates with Heterogenous registry
By Ronni Blumenthal, Executive Director We recently had an opportunity to spend some time chatting with Patrick Short, CEO of Heterogeneous,…
PMSF leads coalition to increase research
By Mark Vieth PMSF Legislative Advocacy Consultant/Sr. Vice President, Cavarrochi Ruscio Dennis Associates Gastrointestinal (GI) symptoms –such as constipation and reflux…
Phelan-McDermid Syndrome families inspire zebrafish research study
By Geraldine BlissPMSF Board Member, Parent If you attended the 2016 or 2018 McPosium, you might remember meeting two young investigators, David James…
Important Message From Our Medical Advisory Committee
The Phelan-McDermid Syndrome (PMS) Medical Advisory Committee would like to inform the patient community and the providers who care for them…
Comorbidities of Epilepsy in Persons with PMS: Results from the Rare Epilepsy Network
By Geraldine BlissPMSF Board Member and mom to Charles In 2014 PMS families whose children have epilepsy were invited to participate…