Simons Variation in Individuals Project (Simons VIP) is an online community that supports families with rare genetic changes associated with features of autism and developmental delay, such as with PACS1 Syndrome.

Simons catalogs PACS1 patients' clinical histories with annual followups, and stores bio specimens for use by researchers.

National Organization for Rare Disorders has administered a research fund for PACS1  since 2016, and has solicited proposals from researchers globally. The successful applicant(s) will be awarded a $45,000 grant by early 2019.

PACS1 Syndrome Research Foundation is a private foundation started by parents of a child with PACS1,  with the goal of finding a therapeutic as quickly as possible that could alleviate some symptoms.

PACS1 Smiles collaborates with the Research Foundation through information sharing

Publications about PACS1 Syndrome::

  1. (2012 J. Schuurs-Hoeijmakers) Recurrent De Novo Mutations in PACS1
  2. (2014, D. Bartholdi) Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability
  3. (2016, J. Schuurs-Hoeijmakers) Clinical Delineation of the PACS1-Related Syndrome
  4. (2016, Unique - PACS1-related Syndrome
  5. (2017, W. Chung) Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures
  6. (2017 N. Miyake) A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome