The present disclosure provides methods and compositions for the treatment of diseases and genetic disorders linked to MeCP2 loss and/or misfunction, including RETT syndrome. The methods and compositions of the present disclosure comprise rAAV vectors and rAAV viral vectors comprising transgene nucleic acid molecules comprising nucleic acid sequences encoding for a MeCP2 polypeptide.

The present invention is related to a novel enzymatic process for production of vitamin A alcohol (retinol) via conversion of retinal, which process includes the use of heterologous enzymes having activity as retinal reductase, particularly wherein the reaction leads to at least about 90% conversion of retinal into retinol. Said process is particularly useful for biotechnological production of vitamin A.

Provided are materials, methods and uses for treating an ophthalmological condition such as Leber Congenital Amaurosis by administering an effective amount of an adeno-associated virus AAV2, serotype 5 (AAV 2/5) or AAV-5 comprising an expressible coding region for human RDH12.

An siRNA targeting 170-hydroxysteroid dehydrogenase type 13 and a siRNA conjugate. Also disclosed are a pharmaceutical composition, cell or kit containing the siRNA, and a method for using the siRNA for the treatment and/or prevention of subjects suffering from HSD17B13-related disorders (such as chronic fibroinflammatory liver disease).

The present invention is related to bio-production of retinoids with improved purity profile, particularly bio-retinoids with a high percentage of retinyl acetate, wherein the flux towards retinol is increased and wherein the percentage of unwanted by-products such as dihydroretinoids or retinal is minimized to a range of below 10% by expressing retinol dehydrogenase (EC 1.1.1.105, RDH22) derived from Yarrowia lipolytica (Candida lipolytica) or Wickerhamomyces anomalus (Hanensula anomala).

The present invention encompasses albumin fusion proteins. Nucleic acid molecules encoding the albumin fusion proteins of the invention are also encompassed by the invention, as are vectors containing these nucleic acids, host cells transformed with these nucleic acids vectors, and methods of making the albumin fusion proteins of the invention and using these nucleic acids, vectors, and/or host cells. Additionally the present invention encompasses pharmaceutical compositions comprising albumin fusion proteins and methods of treating, preventing, or ameliorating diseases, disorders or conditions using albumin fusion proteins of the invention.

The present invention is related to a novel enzymatic process for production of retinoids via a multi-step process, which process includes the use of heterologous enzymes having activity in a carotene-producing host cell, particularly wherein such process results in high percentage of retinoids, in trans-isoform.

The present disclosure provides methods and compositions for the treatment of diseases and genetic disorders linked to MeCP2 loss and/or misfunction, including RETT syndrome. The methods and compositions of the present disclosure comprise rAAV vectors and rAAV viral vectors comprising transgene nucleic acid molecules comprising nucleic acid sequences encoding for a MeCP2 polypeptide.

The invention relates to methods of treating subjects that would benefit from reduction in expression of HSD17B13, such as subjects having a HSD17B13-associated disease, disorder, or condition, e.g., nonalcoholic steatohepatitis (NASH), using double-stranded ribonucleic acid (dsRNA) compositions targeting the HSD17B13 gene. The invention also provides methods for preventing at least one symptom in a subject having a HSD17B13-associated disease, disorder, or condition, e.g., NASH.

Provided are compositions useful for treating an ophthalmological condition due to one or more loss-of-function mutations in the gene encoding the Retinol Dehydrogenase 12 (RDH12) protein. Provided herein are nucleic acids encoding a human RDH12 and vectors comprising an expressible coding region for human RDH12. Also provided are uses of such nucleic acids and vectors for treating ophthalmological disease, including, but not limited to Leber Congenital Amaurosis.