Methods for the treatment and prevention of laminopathies and diseases characterised by hyperlipidemia through LING complex inhibition are disclosed. In particular, LING complex disruption by expression of dominant-negative LING complex proteins alleviates pathophysiology in Lmna mutation-associated muscular dystrophy, progeria, and dilated cardiomyopathy. In addition, LING complex disruption by expression of dominant-negative LING complex proteins also alleviates pathophysiology in mouse models of atherosclerosis and familial hypercholesterolemia.

The present invention relates to compositions, methods, uses and kits for the treatment of renal cystogenesis. In particular, the compositions, methods, uses and kits are particularly useful, but not limited to, the treatment or prevention of Polycystic Kidney Disease. In one aspect, the prevent invention provides a method of minimising or delaying renal cystogenesis in a subject in need thereof, the method comprising inhibiting AKT in the subject, or reducing the level of Aurora kinase in the subject, thereby minimising or delaying renal cystogenesis.

Described herein are compositions comprising AAV vectors comprising a sequence encoding mucolipin 1, and methods of use thereof for gene therapy of Mucolipidosis IV (MLIV).

Described herein are compositions and methods for treating a subject having or at risk of developing Crohn's disease. Using the compositions and methods of the disclosure, a patient, such as an adult human patient, may be provided one or more agents that elevate the expression and/or activity levels of Nucleotide-binding oligomerization domain-containing protein 2 (NOD2). Exemplary agents that may be used in conjunction with the compositions and methods of the disclosure for this purpose include cells, such as pluripotent cells, that express NOD2.

Disclosed herein are novel variants of KCVN2 and their use, for example, in methods of treating a subject with a retinal disorder, such as CDSRR.

This invention relates to polynucleotides comprising a nucleotide sequence encoding a PPT1 polypeptide or a fragment thereof, vectors (viral or non-viral vectors) comprising the same, and methods of using the same for delivery of the open reading frame to a cell or a subject and to treat infantile neuronal lipofuscinosis (infantile Batten disease). The polynucleotides comprise an optimized CLN1 open reading frame.

The present disclosure relates to the genetically modified non-human animals that express a human or chimeric OX40, and methods of use thereof.

This present disclosure provides adeno-associated viral vectors, recombinant adeno-associated vims (rAAV), and methods of their use in gene therapy for treating CDKL5 deficiency disorder (CDD). Also provided are pharmaceutical compositions comprising an rAAV of the invention and a pharmaceutically acceptable carrier or excipient. These pharmaceutical compositions may be useful in gene therapy for the treatment of CDD caused by mutations in CDKL.

This disclosure relates to genetically modified immunodeficient animals which express a human or chimeric (e.g., humanized) SIRPα and/or human or chimeric (e.g., humanized) CD47, and methods of use thereof.

Described here are methods, compositions, and systems for generating transgenic islet cells suitable for xenotransplantation.