2023 Fundraising Toolkit. Fundraising is the major lifeline of our organization. We rely on the generosity of donors, like you, to provide the funds necessary to achieve our goals of helping families, facilitating research, and creating awareness of Phelan-McDermid syndrome (PMS).
This EL-PFDD meeting was modeled after the work of the FDA’s Patient Focused Drug Development (PFDD) initiative. PFDD is a systematic way of gathering patient perspectives on their condition and on available treatments. The information gathered at the meeting is presented in this Voice of the Patient report, a high-level summary of the perspectives generously shared by the families and caregivers of individuals living with PMS, who participated in the November 8, 2022, EL-PFDD meeting. The report also includes selected comments that were submitted through an online portal.
In 2001, Katy Phelan and Heather McDermid described the clinical and cytogenetic characteristics of 37 people with a 22q13.3 deletion(Phelan et al., 2001). The 22q13.3 deletion syndrome was since then referred to as Phelan-McDermid syndrome (PMS) (OMIM#606232).Later on, the deletion of a single gene, i.e. SHANK3 (OMIM#606230),was found to be responsible for the majority of the clinical features.Individuals with a pathogenic variant in SHANK3 appeared to have a similar phenotype, that is also referred to as Phelan-McDermid syndrome (Schon ¨ et al., 2023, this issue; Vitrac et al., 2023, this issue). Sincenot all individuals referred to in the original publication of Phelan and McDermid may have had a deletion 22q13.3 including SHANK3 there has been some debate on how the phenotype should be called whenSHANK3 is not involved. Consequently, a distinction in different types ofPhelan-McDermid syndrome has been proposed: PMS SHANK3-relatedand PMS SHANK3-unrelated (Phelan et al., 2022).
Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other…
Altered sensory functioning is often observed in individuals with SHANK3 related Phelan-McDermid syndrome (PMS). Compared to typically developing individuals and individuals with an autism spectrum disorder, it has been suggested that there are distinctive features of sensory functioning in PMS.
Clinicians treating PMS individuals experiencing a neuropsychiatric event can use this form to reach out to the Neuropsychiatric Consultation Group. The…
PMS is a rare genetic disorder which usually involves changes in a critical gene (SHANK3) on the longarm of chromosome 22.…
Data has emerged that a subset of individuals with Phelan-McDermid syndrome (PMS) experience devastating psychiatric symptoms, such as regression, bipolar disorder, and catatonia.
We are seeking grant applications which bridge the gap between promising pilot laboratory data and the development of new therapeutics or new clinical assessments for Phelan-McDermid syndrome (PMS). Example areas of interest include but are not limited to: follow-up characterization studies to drug screens, cross-disorder clinical approaches, funding for remaining experiments before solidifying a pharmaceutical relationship, and adjustment of assessments or the development of new assessments which more accurately measure Phelan-McDermid syndrome phenotypes. Applications with clinical relevance will be preferred.
We are seeking highly novel grant applications which explore an understudied area of Phelan-McDermid syndrome (PMS) research. Successful proposals will open new avenues of research in the field. Applications with clinical relevance will be preferred. Applications can be focused on any topic, but areas of special interest to families include: research across other neurodevelopmental disorders, development of tools for monitoring or managing symptoms, peripheral nervous system studies, identification of new drug candidates, implication of new cell types, and understanding of genes aside from SHANK3
