GRACE SCIENCE FOUNDATION
Programs
Program 1 [2020]
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. THESE MOUSE MODELS HAVE ALLOWED THEM 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 FOR TESTING CANDIDATE THERAPIES, INCLUDING GENE THERAPIES AND SMALL MOLECULE DRUGS. THE TEAM HAS ALSO FOUND THAT NGLY1 DEFICIENCY IN MICE TRIGGERS A SPECIFIC INNATE IMMUNE PATHWAY MEDIATED BY THE CGAS/STING PATHWAY. THEY HAVE BEEN USING GENETIC AND PHARMACOLOGICAL APPROACHES TO TEST WHETHER ACTIVATED STING SIGNALLING CONTRIBUTES TO THE PATHOLOGY ASSOCIATED WITH NGLY1 DEFICIENCY AND WHETHER BLOCKING THIS PATHWAY PROVIDES THERAPEUTIC BENEFIT.GeographiesNot indicatedDatesJan 1, 2020 – Dec 31, 2020Source990No causes providedNo populations provided–$279.8KProgram 2 [2020]
STANFORD UNIVERSITY NGLY1 NATURAL HISTORY STUDY (MAURA RUZHNIKOV) - TEAM IS CONDUCTING AN NGLY1 NATURAL HISTORY STUDY TO DEFINE THE CLINICAL SPECTRUM OF THE DISEASE AND ITS PROGRESSION, AS WELL AS BIOMARKER ENDPOINTS FOR USE IN THERAPEUTIC TRIALS. THIS STUDY IS LED BY DR. MAURA RUZHNIKOV, MD, A CHILD NEUROLOGIST AND MEDICAL GENETICIST FOCUSED ON THE DIAGNOSIS AND MANAGEMENT OF RARE NEUROLOGIC DISORDERS, INCLUDING GENETIC EPILEPSY SYNDROMES, CHILDHOOD NEURODEGENERATIVE DISEASES, AND UNDIAGNOSED SUSPECTED GENETIC CONDITIONS. TEAM HAS DEVELOPED AND RECEIVED APPROVAL FOR THE STUDY DESIGN, RECRUITED PARTICIPANTS, AND GATHERED UP TO 2 YEARS OF CLINICAL DATA FROM SEVERAL PATIENTS. AS OF THE END OF 2020, THE STUDY HAS ENROLLED TWENTY-NINE INDIVIDUALS CONFIRMED TO HAVE NGLY1 DEFICIENCY AS EITHER ON-SITE OR REMOTE PARTICIPANTS. ULTIMATELY THE STUDY WILL FOLLOW THE PARTICIPANTS LONGITUDINALLY OVER FIVE YEARS.GeographiesNot indicatedDatesJan 1, 2020 – Dec 31, 2020Source990No causes providedNo populations provided–$375.8KProgram 3 [2020]
CHARLES RIVER LABORATORIES - TEAM HAS IMPORTED AND ESTABLISHED A COLONY OF NGLY1 KNOCKOUT RATS FOR USE IN TESTING THERAPIES TO TREAT NGLY1 DEFICIENCY. A BREEDING COLONY HAS BEEN ESTABLISHED, MUTANT PHENOTYPES HAVE BEEN CHARACTERIZED, AND WORK IS UNDERWAY TO USE THESE MODELS TO TEST ADENO-ASSOCIATED VIRUS (AAV)-MEDIATED GENE DELIVERY FOR RESCUE OF DISEASE-ASSOCIATED PHENOTYPES. THIS WORK WILL SERVE AS THE FOUNDATION FOR AN INVESTIGATIONAL NEW DRUG (IND) APPLICAITON TO THE FDA FOR AN NGLY1 DEFICIENCY GENE THERAPY CLINICAL STUDY; THE FINDINGS COULD ALSO SUPPORT TRIALS FOR OTHER THERAPEUTIC AVENUES FOR TREATING NGLY1 DEFICIDENCYGeographiesNot indicatedDatesJan 1, 2020 – Dec 31, 2020Source990No causes providedNo populations provided–$516.8K
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