Organizations Filed Purposes:
THE MISSION OF THE FOUNDATION IS TO SUPPORT AND FUND THE DEVELOPMENT OF LIFE-SAVING TREATMENT FOR PATIENTS THAT ARE DEFICIENT IN THE N-GLYCANESE ENZYME AND THOSE SUFFERING FROM RELATED GENETIC DISEASES. THE ACTIVITIES OF THE FOUNDATION WILL INVOLVE PROVIDING GRANT FUNDING TO HOSPITALS AND MEDICAL RESEARCH FACILITIES WHICH ARE CONDUCTING MEDICAL RESEARCH IN VARIOUS FIELDS RELATING TO THE SEARCH FOR UNDERSTANDING AND TREATMENT OF THIS CONDITION, AND FOSTERING COLLABORATION BETWEEN ACADEMIA, RESEARCH INSTITUTIONS, HOSPITALS, PRIVATE COMPANIES, AND GOVERNMENTAL AGENCIES.
THE MISSION OF THE FOUNDATION IS TO SUPPORT AND FUND THE DEVELOPMENT OF LIFE-SAVING TREATMENT FOR PATIENTS THAT ARE DEFICIENT IN THE N-GLYCANESE ENZYME AND THOSE SUFFERING FROM RELATED GENETIC DISEASES.
THE JACKSON LABORATORY (CAT LUTZ) - THE TEAM GENERATED A SPECIFIC MOUSE MODEL OF NGLY1 LOSS AND COMPLETED A DEEP PHENOTYPIC ANALYSIS OF THESE MICE TO CHARACTERIZE DISEASE RELEVANT PHENOTYPES AND MAP THEIR APPEARANCE OVER TIME. THESE STUDIES PROVIDED INSIGHTS INTO WHICH TISSUES ARE IMPORTANT IN DISEASE PATHOLOGY AND PROVIDE A MODEL FOR TESTING POTENTIAL THERAPIES TO REVERSE PATHOLOGIES ASSOCIATED WITH NGLY1 DEFICIENCY
SALK INSTITUTE FOR BIOLOICAL SCIENCES (GAGE LAB)- TEAM HAS BEEN DEVELOPING INDUCED PLURIPOTENT STEM CELLS (IPSCS) FROM NGLY1 DEFICIENT PATIENTS AS A MODEL SYSTEM TO CHARACTERIZE THE FUNCTIONAL CHANGES CAUSED BY NGLY1 LOSS AND TO TEST CANDIDATE THERAPIES TO REVERSE THOSE CHANGES. THEY OBSERVED THE PRESENCE OF PROTEIN AGGREGATES, MITOCHONDIAL DYSFUNCTION AND REDUCED SYNAPTIC ACTIVITY IN NEURONS DERIVED FROM PATIENT IPSCS COMPARED WITH CONTROLS. THE TEAM HAS VERIFIED THAT THESE PHENOTYPIC CHANGES ARE RESUCED BY REINTRODUCING A FUNCTIONAL NGLY1 GENE INTO THE CELLS, AND HAS BEEN CHARACTERIZING THE COMPOSITION OF THE AGGREGATES FOUND IN NGLY1 CELLS. THESE DISCOVERIES IDENTIFIED PHENOTYPES THAT CAN BE LEVERAGED FOR HIGH-THROUGHPUT DRUG SCREENS AND PROVIDE INSIGHT AS TO THE CELL TYPES AFFECTED BY THE DISEASE IN PATIENTS.
UNIVERSITY OF TEXAS SOUTHWESTERN (YAN LAB) - TEAM HAS BEEN GENERATING AND CHARACTERIZING SEVERAL MOUSE MODELS OF NGLY1 DEFICIENCY, INCLUDING MODELS IN WHICH THE GENE IS INACTIVATED IN CERTAIN TISSUES AND CONDITIONALLY AFTER BIRTH.THIS HAS ALLOWED THEM TO USE THESE MOUSE MODELS TO CHARACTERIZE NEUROLOGICAL PHENOTYPES, NEUROPATHOLOGICAL CHANGES, INFLAMMATION, SENSORY AND MOTOR DEFECTS, AND DISEASE ASSOCIATED BIOMARKERS. THESE ANIMAL MODELS PROVIDE INSIGHTS INTO THE SPECIFIC DEFECTS THAT RESULT FROM NGLY1 LOSS AND ESTABLISH A FOUNDATION TO TEST CANDIDATE THERAPIES INCLUDING GENE THERAPIES AND SMALL MOLECULE DRUGS. THE TEAM HAS ALSO FOUND THAT NGLY1 DEFICIENCY TRIGGERS A SPECIFIC INNATE IMMUNE PATHWAY MEDIATED BY THE CGAS/STING PATHWAY. THEY HAVE DEVELOPED TOOLS TO DETERMINE WHETHER ACTIVATED STING SIGNALLING CONTRIBUTES TO THE PATHOLOGY ASSOCIATED WITH NGLY1 DEFICIENCY AND WHETHER BLOCKING THIS PATHWAY PROVIDES THERAPEUTIC BENEFIT.
Executives Listed on Filing
Total Salary includes financial earnings, benefits, and all related organization earnings listed on tax filing
| Name | Title | Hours Per Week | Total Salary |
|---|
| Elle Stephens | DIRECTOR | 1 | $0 |
| J Taylor Crandall | DIRECTOR | 1 | $0 |
| Chelsea Clinton | DIRECTOR | 1 | $0 |
| Pete Briger | DIRECTOR | 1 | $0 |
| Ken Drazan | SECRETARY | 1 | $0 |
| Egon Durban | CHIEF FINANCIAL OFFICER | 1 | $0 |
| Matthew Wilsey | PRESIDENT | 20 | $0 |
Data for this page was sourced from XML published by IRS (
public 990 form dataset) from:
https://s3.amazonaws.com/irs-form-990/202043219349306039_public.xml