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Funded Research

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The PACS1 Syndrome Research Foundation has committed over

1.4 million dollars in funding towards scientific research.The PACS1 Syndrome Research Foundation is PURELY research focused, funding scientific research towards finding a cure for PACS1 Syndrome. We do not have an advocacy wing.​​​

ACKNOWLEDGING OUR MAJOR DONORS

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NONE OF THIS PROGRESS WOULD BE POSSIBLE WITHOUT THE GENEROUS SUPPORT OF THE FAMILIES AND ORGANIZATIONS THAT HAVE MADE SIGNIFICANT CONTRIBUTIONS TO ADVANCING PACS1 SYNDROME RESEARCH:

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  • THE REDDY-VASSALLI FAMILY (PARENTS OF ALYA): DONATION OF $1,000,000.

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  • MEL AND SANDRA DEANE (PARENTS OF JAMES): DONATED $500,000 WITH A PLEDGE OF $1,000,000 IN TOTAL.

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  • CHAN ZUCKERBERG INITIATIVE: $600,000 RARE AS ONE GRANT, WHICH SUPPORTS INFRASTRUCTURE, TECHNOLOGY, AND CAPACITY BUILDING, ALLOWING US TO FOCUS ON CRITICAL RESEARCH EFFORTS BELOW.

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THANK YOU FOR HELPING US DRIVE PROGRESS TOWARD TREATMENTS FOR PACS1 PATIENTS.

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.

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Please note that the PACS1 Syndrome Research Foundation does not fund indirect costs, also known as overhead or facilities and administrative (F&A) costs. Our policy stipulates that all grant funds must be allocated exclusively toward program expenses essential for grant execution and directly aligned with the project's objectives.

 

2024

 

Institution: UT Southwestern Medical Center

Principal Investigator: Evan Nair-Gill, M.D., Ph.D.

Description: Exploring the structural biology of the PACS1 – WDR37 Connection (Year 2)

Amount: $143,560

 

Institution: The Broad Institute of MIT and Harvard 

Principal Investigator: Jaime Cheah, Ph.D.

Description: Exploring cell-painting applications in fibroblasts to better understand PACS1 Syndrome.

Grant Amount: $16,501.47

 

2023

 

Institution: UT Southwestern Medical Center

Principal Investigator: Evan Nair-Gill, M.D., Ph.D.

Description: Exploring the structural biology of the PACS1 – WDR37 Connection

Grant Amount: $191,340 

 

Institution: The Jackson Laboratory

Principal Investigator: Steve Murray, Ph.D.

Description: PACS1 Syndrome mouse model development and evaluation of the potential of genome editing (in particular base editing) as a therapeutic intervention for PACS1 Syndrome. Recognized as the 'Breakthrough of the Year' in 2020, base editing is a novel technique that is particularly relevant for PACS1 Syndrome, 

Amount: $58,801

 

Research Partner: HitGen, Inc.

Description: DNA encoded library (DEL) screening initiative.

Research Commitment: $7,240

 

Research Partner: Across Healthcare

Description: Early-stage development of a patient data collection platform. 

Research commitment: $25,000

 

Institution: The Broad Institute of MIT and Harvard 

Principal Investigator: Jaime Cheah, Ph.D.

Description: Exploring cell-painting applications in fibroblasts to better understand PACS1 Syndrome.

Grant Amount: $20,874

2022

Research Partner: Across Healthcare

Description: Early-stage development of a patient data collection platform. 

Research commitment: $25,000

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Research Partner: Hitgen

Description: DEL Library screen to find potential binding partner/therapeutic targets for PACS1 Syndrome.

Research commitment: $200,000

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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

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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

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2021

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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

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2020

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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

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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

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Institution: University of Pittsburgh

Principal Investigator: Gary Thomas, Ph.D.

Description: Mouse costs to build mouse models in PACS1 Syndrome.

Grant Amount: $30,705

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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    

 

6th Annual PACS1 Scientific conference September 2024: PACS1 Foundation Funded Research Project highlights

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EXPLORING THE STRUCTURAL BIOLOGY OF THE PACS1-WDR37 CONNECTION

Dr. Evan Nair-Gill and his team at UT Southwestern Medical Center are at the forefront of structural biology research on PACS1 Syndrome. They have made progress in identifying the 3D structure of the PACS1-WDR37 Protein. This structure is vital for understanding the mechanism of action of the mutant PACS1 protein. The foundation previously committed to making a significant 3-year investment in Dr. Nair-Gill’s lab which has been renewed for year 3/2026. 

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ADVANCING GENE EDITING FOR PACS1 SYNDROME 

Our collaboration with The Jackson Laboratory (JAX) on gene editing is progressing as we explore the exciting field of base editing using CRISPR/Cas9 technology. Recognized as the 'Breakthrough of the Year' in 2020, base editing is a novel technique that combines CRISPR with a base editor to selectively modify a single DNA base in the genome. This is particularly relevant for PACS1 Syndrome, which is caused by a single point mutation. The foundation-funded project has identified some promising vectors which need to be further tested in-vivo and in-vitro to confirm safety and efficacy.

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MOUSE MODEL FOR PACS1 SYNDROME 

Our collaboration with The Jackson Laboratory (JAX) on mouse models of PACS1 Syndrome is continuing to make progress. JAX has developed a new mouse model of PACS1 Syndrome. This mouse model is currently undergoing phenotyping to confirm relevant characteristics that can be used in the future for testing potential therapeutics for PACS1 Syndrome on the mice. The foundation has committed additional funding to JAX to continue this important phenotyping work.

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