PMSF Research Blog

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 -- are one of the top quality of life concerns for individuals with Phelan-McDermid Syndrome (PMS).  To date, little research has been conducted at that National Institutes of Health (NIH) on GI complications for PMS-diagnosed individuals, and for this [...]

Phelan-McDermid Syndrome families inspire zebrafish research study

By Geraldine Bliss PMSF Board Member, Parent If you attended the 2016 or 2018 McPosium, you might remember meeting two young investigators, David James and Robert Kozol, and their mentor, Dr. Julia Dallman from the University of Miami at Coral Gables.  When they attended the 2016 McPosium, they had recently published a paper on a SHANK3 knockdown zebrafish.  Inspired by the stories [...]

Comorbidities of Epilepsy in Persons with PMS: Results from the Rare Epilepsy Network

By Geraldine Bliss PMSF Board Member and mom to Charles In 2014 PMS families whose children have epilepsy were invited to participate in the Rare Epilepsy Network (REN), a registry of rare epilepsies. The REN conducted a study to describe the prevalence and characteristics of comorbidities (the simultaneous presence of two or more chronic diseases or conditions in a patient) [...]

Registry Insights

by Sara Tuller, Media Relations, Lasell College PMSF Registry Coordinator, Upcoming Webinar There are many important roles within the Phelan-Mcdermid Syndrome Foundation community including patients, parents, family, researchers, friends, supporters, and volunteers. Genetic counselors are another one of the other roles you can find within the community. We were lucky enough to get some insight on Brittany McLarney, a genetic [...]

AGENDA Research Collaboration

compiled by Sean Chase, Media Relations, Lasell College PMSF Forms Unique Collaboration with the Autism Science Foundation The Phelan-McDermid Syndrome Foundation has joined forces with other closely linked foundations associated with autism and neurodevelopmental disorders to form the new alliance, AGENDA -- the Alliance for Genetic Etiologies of Neurodevelopmental Disorders and Autism. AGENDA , which includes groups representing Fragile X, [...]

Bio Patient & Health Advocacy

By Tony Samuel, Father to Nadia Bio Patient & Health Advocacy Summit 2018 The 7th annual Bio Patient & Health Advocacy Summit took place at the Hyatt Regency in Washington D.C. on October 25th and 26th . The Biotechnology Innovation Organization continues to bring patient advocacy organizations, government regulators and other BIO stakeholders together in one venue, to share ideas [...]

A Research Opportunity for Adults with Phelan-McDermid Syndrome

By Brittany McLarney, MS, CGC, Registry Coordinator Enrollment is currently open for the PMS Adult research study described below. The goal of this study is to learn more about individuals with PMS who are 22 years old and older. It extends the work done in the Natural History Study that included only children. The goal of this study is to gain a better [...]

Pictures can speak louder than words

By Diane Linnehan, PMSF Program Director Membership and Registry - What is the difference ??? Many families ask if there is a difference between joining the Foundation and enrolling in the registry.   PMSF currently has 1949 individuals worldwide who interact with the Foundation through membership and/or participation in the registry. If you are receiving newsletters, you are a member of [...]

ECHO – Phelan-McDermid syndrome Neuropsychiatric Consultation Group

By Alex Kolevzon, MD, Child Psychiatrist and Tesi Kohlenberg, Child Psychiatrist and PMS Parent A New Resource for Families Facing Neuropsychiatric Challenges updated 1/6/19 - People with Phelan-McDermid syndrome (PMS) can develop complicated forms of mood disorders, periods of loss of skills, psychotic symptoms, catatonia, dramatic changes in their ability to sleep, and other neurological disorders. They also often respond [...]

Registration is OPEN

By Veronica Frunzi, Conference Committee Co-Chairpersons We've made registering for the 2018 PMSF International Conference and Phelan-McPosium in July in Dallas so easy.  REGISTER HERE Here's what you need to know: Adult registration includes admission to conference and McPosium sessions, Family Fun Day on Wednesday, Social Events on W,Th, F, Sa, and a swag bag with conference T-shirt. You can [...]
PMSF | Phelan-McDermid Syndrome Foundation