PMSF Neuropsychiatric Consultation Group – Case Presentation Form
Clinicians treating PMS individuals experiencing a neuropsychiatric event can use this form to reach out to the Neuropsychiatric Consultation Group. The…
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
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CANDID , Consortium for Autism, Neurodevelopmental Disorders & Digestive Diseases, was a collaboration between patient advocacy groups, scientists, clinicians, and research organizations that is focused on…
Use this chart to help you make an informed decision when considering participation in a clinical trial.
Linking PMS genetics with symptoms – a large study on 170 individuals A characterization of sleep issues in PMS compared with a related rare disorder Progress in developing model systems from patient cells