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Gene therapy for ATP1A3-Related Neurologic Disorders
Unmet Need Alternating Hemiplegia of Childhood (AHC) is a rare neurologic disorder affecting children, causing episodes of temporary paralysis, dystonia, and severe behavioral issues, with prevalence estimates ranging from 1 in 1 million to 1…
Splice switching oligonucleotides to restore PHKG2 expression in glycogen storage disease IX
Unmet Need Glycogen Storage Disease IX (GSD IX) is a rare inherited disorder primarily caused by mutations in the PHKG2 gene, leading to significant deficiencies in glycogen metabolism. Patients typically present with a variety of…
The Fit Together Playbook: a curriculum that fosters community partnerships to fight child obesity
Unmet Need Childhood obesity affects 1 in 5 children resulting in more than 14.7 million obese children ages 2-19 years old in the United States. Many factors can contribute and cause obesity including diet, lack…
iPSC line to identify novel therapies for ARVC
Technology Duke inventors have developed a novel induced pluripotent stem cell (iPSC) line that contains a mutation that impacts the TAX1BP3 gene, which causes arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC). Specifically, the iPSCs were derived from…
Gene therapy for long-term treatment of Pompe disease
Unmet Need Pompe disease is a rare heritable disorder impacting heart and skeletal muscle function with an estimated incidence rate of 1 in 40,000 births in the US. Of these affected births, a third take…
Automatic segmentation software to diagnose retinopathy of prematurity (ROP) from optical coherence tomography images in preterm infants
Unmet Need Retinopathy of prematurity (ROP) is a developmental vascular proliferative disorder that occurs in approximately 50-70% of preterm infants and is a leading cause of childhood blindness. The most critical factor in identifying ROP…
The Trail Guide curriculum for childhood obesity treatment program model
Unmet Need Childhood obesity is an ongoing health concern involving cardiometabolic risk, reduced quality of life and long-term health consequences. Current child obesity treatment guidelines recommend 26 or more hours of behavior treatment, delivered over…
A method of screening and monitoring glycogen storage diseases with a single biomarker
Unmet Need Glycogen storage disease type I (GSD I) is an autosomal recessive inherited disorder of carbohydrate metabolism associated with life threatening fasting hypoglycemia, and significant morbidity and mortality. Currently, the standard of care therapy…
Method for treatment of glycogen storage disease type III by AAV vector containing a bacterial glycogen debranching enzyme
Value Proposition Glycogen storage disease (GSDIII, Cori Disease) is due to a genetic mutation in the glycogen debranching enzyme (GDE), and can cause uncontrolled glycogen buildup in liver, muscles, and other body compartments. There is…
Test of Verbal Expression and Reasoning (TOVER)
The TOVER is non-standardized assessment of expressive language in context and verbal reasoning. The 64 item test was specifically designed to assess language function in children and adults with Down syndrome across a broad range…