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Gene therapy for long-term treatment of GSDIa

Gene therapy for long-term treatment of GSDIa

Unmet Need Glycogen storage disease type Ia (GSDIa), or von Gierke disease, is a rare heritable metabolic disorder that impacts the liver and kidneys due to an inability to break down glycogen. An estimated 1…

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Small molecule therapeutics for Kabuki syndrome and related disorders

Small molecule therapeutics for Kabuki syndrome and related disorders

Unmet Need Kabuki syndrome is a developmental disorder characterized by a distinctive set of facial features, short stature, intellectual disability, dermatoglyphic abnormalities, and internal malformations of cardiac, renal, gastrointestinal, and/or skeletal systems. The global prevalence…

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Gene therapy for ATP1A3-Related Neurologic Disorders

Gene therapy for ATP1A3-Related Neurologic Disorders

Unmet Need Children with Alternating Hemiplegia of Childhood can have episodes of temporary paralysis, dystonia, and severe behavioral problems. The prevalence of AHC is estimated to be 1 in one million to 1 out of…

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A tool to facilitate high affinity binding between beta-Arrestin and GPCR

A tool to facilitate high affinity binding between beta-Arrestin and GPCR

Unmet Need Beta-arrestins are a highly conserved family of cytosolic adaptor proteins that contribute to a multitude of physiological functions through a canonical interaction with various G protein-coupled receptors (GPCRs). Through agonist binding to GPCRs,…

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Muscle mass influences upon response to therapy

Muscle mass influences upon response to therapy

Duke University is seeking a company interested in commercializing a drug treatment method for enhancing lysosomal storage disease therapy by modulating cell surface receptor expression. Lysosmal storage diseases (LSDs), including Pompe disease, Gaucher disease, Farby…

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A method of screening and monitoring glycogen storage diseases with a single biomarker

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…

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Method for treating glycogen storage disease

Method for treating glycogen storage disease

The present disclosure is directed to methods of treating a cytoplasmic glycogen storage disorder, including glycogen storage disease I, glycogen storage disease III, glycogen storage disease IV, and/or conditions associated with a PRKAG2 mutation, by…

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Enhancing of homing and/or engraftment of cord blood mononuclear cells in the central nervous system

Enhancing of homing and/or engraftment of cord blood mononuclear cells in the central nervous system

Value Proposition Leukodystrophies are inherited disorders resulting in decreased motor function, muscle rigidity, degeneration of sight and hearing, and are ultimately fatal. There is a great lack of treatment, although cord blood mononuclear (CBM) and…

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MEK inhibitors as therapeutic agents and diagnostic tools for hemoglobinopathies, including thalassemia

MEK inhibitors as therapeutic agents and diagnostic tools for hemoglobinopathies, including thalassemia

Value Proposition Patients with sickle cell disease experience acute vaso-occlusive “crises”, which lead to significant pain, multiple organ damage, and eventually organ failure. Such crises are caused largely by their abnormal sickle red blood cells,…

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