Abstract: The disclosure provides for methods of predicting disease progression comprising detecting a modification of one or more disease markers in a glial cell or neuronal cell generated from a skin cell of the subject. The disclosed methods include methods of identifying subjects that are responsive to a therapeutic agent and methods of determining effectiveness of a therapeutic agent.

Abstract: The disclosure provides gene therapy vectors, such as adeno-associated virus (AAV), designed for treatment of an immunoglobulin- µ binding protein 2 (IGHMB P2)-related disorder.

Abstract: Certain embodiments of the invention provide EphA4 targeting compounds and compositions comprising a compound described herein. Certain embodiments of the invention also provide methods of treating a neurological disease (e.g., Amyotrophic Lateral Sclerosis, Alzheimer's Disease) or cancer.

Abstract: The present disclosure relates to targeting of miRNA to activate expression of genes on the inactivated X chromosome. This gene therapy is useful for treating X-linked disorders, including Rett syndrome.

Abstract: The disclosure provides gene therapy vectors, such as adeno-associated virus (AAV), designed for treatment of an Interferon regulatory factor 2 binding protein like (IRF2BPL) disorder.

Abstract: The present disclosure relates to methods of targeting specific cell types within the cochlea using optimized gene therapy vectors. In particular, the disclosure provides gene therapy vectors to specifically target cochlear cells and methods of treating hearing impairment and hearing-loss related disorders.

Abstract: Provided herein are methods of treating a subject comprising a SCN2A mutation, a mutated SCN2A voltage-gated sodium channel protein, a SLC6A1 mutation, a SCN1A mutation or an IRF2BPL mutation. Methods of treating a subject with elevated levels of basal mitochondrial respiration, mitochondrial ATP-linked respiration, or a combination thereof, are also provided. Methods of treating a subject with a seizure disorder and method of treating a subject with a neurodegenerative or neurological disorder with mitochondrial dysfunction, optionally, with elevated levels of basal and/or ATP-linked respiration, are provided. Methods of improving survival of motor neurons or other neuronal cells types, reducing mitochondrial basal and/or ATP-linked respiration, reducing cellular oxidative stress, or a combination thereof, additionally are provided. In exemplary embodiments, the method comprises administering to the subject copper-ATSM (CuATSM) in an effective amount.

Abstract: The present disclosure relates to methods of targeting specific cell types within the retina using optimized gene therapy vectors in combination with a glycoside hydrolase enzyme, such as neuraminidase. In particular, the disclosure provides gene therapy vectors administered with a glycoside hydrolase enzyme to specifically target retinal cells and methods of treating visual impairment, retinal degeneration and vision-related disorders.

Abstract: The present disclosure relates to methods of targeting specific cell types within the retina using optimized gene therapy vectors. In particular, the disclosure provides gene therapy vectors to specifically target retinal cells and methods of treating visual impairment, retinal degeneration and vision-related disorders such as CLN disease.

Abstract: Disclosed are methods for genetically engineering cells using Adeno-associated viral (AAV) delivery of a CRISPR/CAS9 system and ribonucleoproteins for integration.