Funded Research
The PACS1 Syndrome Research Foundation has committed close to 1 million dollars in funding towards scientific research.
We fund the most promising basic and translational research that could lead to the development of new treatments in the coming years. The Scientific Advisory Board (SAB) of the PACS1 Syndrome Research Foundation reviews all research proposals and projects under consideration by the Foundation. Proposals are evaluated based on the investigator's expertise, the work plan, research objectives, and the project's potential to accelerate the development of treatments for PACS1 patients.
2022
Research Partner: Across Healthcare
Description: PACS1 Syndrome Research Foundation owned patient data collection platform. Collect registry and natural history data on PACS1 Syndrome patients to support PACS1 Foundation research partners in furthering research, drug development and clinical trial design.
Research commitment: $25,000
Research Partner: Hitgen
Description: DEL Library screen to find potential binding partner/therapeutic targets for PACS1 Syndrome.
Research commitment: $150,000
Institution: Northwestern University
Principal Investigator: Alicia D. Guemez-Gamboa, Ph.D.
Description: Uncover biomarkers of PACS1 Syndrome, results to be shared via an open-source data-sharing platform with PACS1 Foundation research partners.
Grant Amount: $25,000
Institution: The Broad Institute of MIT and Harvard
Research Partner: The Center for the Development of Therapeutics (CDoT), Joseph Growney, Ph.D., Director
Description: Cell-based screening study using patient fibroblasts.
Grant Amount: $15,000
2021
Institution: University of California
Principal Investigator: Yishi Jin, Ph.D.
Description: Continuation of the study of C. elegans model of PACS1 Syndrome to understand the genetics of the PACS1 Syndrome.
Grant Amount: $25,000
2020
Institution: Northwestern University
Principal Investigator: Alicia D. Guemez-Gamboa, Pd.D.
Description: Continuation of the study of neuronal models and human forebrain organoids of PACS1 Syndrome.
Grant Amount: $65,000
Institution: University of California
Principal Investigator: Yishi Jin, Ph.D.
Description: Study of C. elegans model of PACS1 Syndrome to understand the genetics of the disease.
Grant Amount: $50,000
Institution: University of Pittsburgh
Principal Investigator: Gary Thomas, Ph.D.
Description: Mouse costs to build mouse models in PACS1 Syndrome.
Grant Amount: $30,705
Institution: University of Pittsburgh
Principal Investigator: Zachary Wills, Ph.D.
Description: Electrophysiological studies of mouse models of PACS1 Syndrome.
Grant Amount: $25,000
2019
Institution: University of Pittsburgh
Principal Investigator: Gary Thomas, Ph.D.
Description: Mouse costs to build mouse models of PACS1 Syndrome and equipment for a live-cell device to examine further cell biology of PACS1 Syndrome.
Grant Amount: $53,666
Institution: Northwestern University
Principal Investigator: Alicia D. Guemez-Gamboa, Pd.D.
Description: Study of neuronal models and human forebrain organoids of PACS1 Syndrome.
Grant Amount: $65,000
2018
Institution: University of Pittsburgh
Principal Investigator: Gary Thomas, Ph.D.
Description: Continuation of the study of cell biology of PACS1 Syndrome to uncover underlying disease mechanisms and provide new insights into fundamental disease biology and translational opportunities.
Grant Amount: $138,802
Institution: University of Pittsburgh
Principal Investigator: Angela Gronnenborn, Ph.D.
Description: Continuation of the study of structural biology of PACS1 Syndrome to provide new insights into fundamental disease biology and translational opportunities.
Grant Amount: $70,000
2017
Institution: University of Pittsburgh
Principal Investigator: Gary Thomas, Ph.D.
Description: Study of cell biology of PACS1 Syndrome to uncover underlying disease mechanisms and provide new insights into fundamental disease biology and translational opportunities.
Grant Amount: $107,539
Institution: University of Pittsburgh
Principal Investigator: Angela Gronnenborn, Ph.D.
Description: Study structural biology of PACS1 Syndrome to provide new insights into fundamental disease biology and translational opportunities.
Grant Amount: $40,000
Institution: Duke University Medical Center
Principal Investigator: Nicholas Katsanis, Ph.D.
Description: Zebrafish model to study PACS1 Syndrome.
Grant Amount: $64,590