Unique human phenotype to define novel gene function for OCRL1
This technology describes a brain-specific OCRL1 mutant transcript that will be further studied to elucidate neuron-specific functions of the gene.
Unmet Need: Understanding the mechanism of OCRL1 in Lowe syndrome
The OCRL1 gene, located on the X chromosome, encodes an inositol polyphosphate-5-phosphatase. This protein is involved in membrane adhesion and trafficking, and is required for primary cilia formation. Mutations in the OCRL1 gene have been identified in patients with Lowe syndrome who exhibit symptoms including short stature, congenital cataracts, cognitive and behavioral impairment, and renal tubulopathy, but these mutant variants have not been well characterized.
The Technology: Characterizing neuron-specific functions of OCRL1 in Lowe syndrome
The variant described by this technology was identified in a patient exhibiting short stature and neurological features, but no eye or kidney disease, suggesting a brain-specific functional effect. Exploration of this variant using in-vitro and in-vivo models will help elucidate the mechanism underlying the endocrinological and neurological features of the disease, as well as the neuronal function of OCRL1. As such, this work may uncover potential targets for future treatment development.
Applications:
- Research model for studying neuron-specific OCRL1 loss-of-function
- Research model for other ciliopathies
- Potential for the development of precision medicine treatments for Lowe syndrome
- Genetic diagnostic for Lowe syndrome
- Drug screening for targeted therapeutics against Lowe syndrome
Advantages:
- Models existing mutant variant in the patient population
- Can be used to specifically study the neuronal aspects of Lowe syndrome
- Allows both functional study of protein mechanism as well as screening for potential therapeutics
Lead Inventor:
Patent Information:
Patent Pending
Related Publications:
Tech Ventures Reference:
IR CU22138
Licensing Contact: Sara Gusik