OUR RESEARCH APPROACH

Discover. Develop. Deliver.
We are taking a holistic approach towards developing effective treatments for UBA5 with a focus on gene therapy as our first solution. We will be operating like a lean startup, meaning we will be fast, efficient and cross-functional.

CURE DEVELOPMENT

DRUG REPURPOSING

OTHER NOVEL THERAPIES

GENE THERAPY

RESEARCH ENABLERS

ANIMAL DISEASE MODELS

PATIENT-DERIVED MODELS

PATIENT DATA

BASIC RESEARCH

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Here are a list of our science partners and the research and support they’ve given to this foundation. Click through to learn more.

UMASS CHAN

MEDICAL SCHOOL

GENE REPLACEMENT THERAPY

Developing a gene therapy (AAV9) to correct UBA5 deficiency. This preclinical development will lead to an investigational new drug application to the FDA.

The top AAV vector has been identified. Over the past year, efficacy and toxicology studies in mouse models have shown promising results.

What Is Gene Therapy?
UBA5 Gene Therapy Research
Gray-Edwards Lab

BAYLOR

COLLEGE OF MEDICINE

ANIMAL DISESE MODELS

UBA5 fly and mouse models with patient mutations have been generated to accelerate basic research and drug discovery. Additional animal models are currently under development.

Four UBA5 mouse models have been developed, with one showing early signs of a phenotype. A Q312L variant model model is also in progress of development.

Why Are Animal Models Important?
Center for Precision Medicine Models
Bellen Lab

ST. JUDE

CHILDREN'S RESEARCH HOSPITAL

TREATMENT EXPLORATION

Creating patient-derived UBA5 models to study brain activity and development caused by UBA5 pathogenic mutations, these models will be critical in therapeutic development.

Actively exploring novel RNA-based therapeutics to restore or boost UBA5 activity. Additional UBA5 organoids and iPSCs are currently being developed.

What Are Stem Cells - IPSCs?
Why Are Brain Organoids Important?
Mefford Lab

OHSU

OREGON HEALTH AND SCIENCE UNIVERSITY

DRUG REPURPOSING

Developing a novel drug screening platform to discover potential drugs that can restore UBA5 activity. There is also now a model to predict the severity of UBA5 disorder.

An initial screen of 5K FDA-approved drugs yielded 2 potential candidates to boost UBA5 function for further testing. In the process of screening another 10K compounds.

What Is Drug Repurposing?
Pruneda Lab

OUR SCIENCE PARTNERS

Grant opportunities

Check back in the near future

UBA5 SCIENTIFIC PAPERS

Here are some papers that take a deep dive into UBA5. Click through to learn more.

Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities

Published: November 20, 2023

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

Published: November 6, 2023

We are racing against time to develop a life-saving treatment for UBA5 Disorder.

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