top of page

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

Anchor 1

OUR SCIENCE PARTNERS

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 two AAV9 vectors expressing UBA5 have been identified and are currently undergoing efficiency testing before proceeding to toxicology.

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.

The characterization of several UBA5 mouse models is underway, and concurrently, a mouse model with the Q312L variant is currently being developed.

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

Grant opportunities

More information to come soon

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.

bottom of page