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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