Abstract: CRISPR/CAS-related compositions and methods for treatment of Leber's Congenital Amaurosis 10 (LCA10) are disclosed.

Abstract: Provided are methods and compositions for the treating a patient with a urea cycle disorder. Methods and compositions are also provided for modulating genes encoding enzymes that participate in the urea cycle by altering gene signaling networks.

Abstract: CRISPR/CAS-related compositions and methods for treatment of Sickle Cell Disease (SCD) are disclosed.

Abstract: CRISPR/CAS-related systems, compositions and methods for editing RS1, RL2, and/or LAT genes in human cells are described, as are cells and compositions including cells edited according to the same.

Abstract: The invention relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the TMPRSS6 gene, and methods of using such dsRNA compositions to inhibit expression of TMPRSS6.

Abstract: CRISPR/CAS-related compositions and methods for treatment of Cystic Fibrosis (CF).

Abstract: Compositions and methods for treatment of CEP290 related diseases are disclosed.

Abstract: Disclosed herein are genome editing systems and compositions that target a cystic fibrosis transmembrane conductance regulator (CFTR) gene and a sodium channel epithelial 1 alpha (SCNN1A) gene, comprising a Cas9 molecule, and a gRNA molecule comprising a targeting domain that is complementary with a target sequence of a CFTR gene or a SCNN1A gene, and cells comprising such genome editing systems and compositions. Also provided are methods for using the genome editing systems, compositions, and cells for genome engineering (e.g., altering a CFTR gene and/or a SCNN1A gene), and for preventing or treating Cystic Fibrosis (CF) and CF-like disease.

Abstract: CRISPR/Cas-related compositions and methods for treatment of Usher Syndrome and/or Retinitis Pigmentosa are disclosed herein.

Abstract: The present invention provides methods and compositions for the treating a patient with a genetic disease, such as fibronectin glomerulopathy, hereditary coproporphyria and others. Methods and compositions are also provided for modulating the disease-associated gene(s) by altering gene signaling networks.

Abstract: CRISPR/CAS-related systems, compositions and methods for editing RS1, RL2, and/or LAT genes in human cells are described, as are cells and compositions including cells edited according to the same.

Abstract: Provided are methods and compositions for the treating a patient with a urea cycle disorder. Methods and compositions are also provided for modulating genes encoding enzymes that participate in the urea cycle by altering gene signaling networks.

Abstract: Disclosed herein are methods for linking non-coding variants and candidate genes that are associated with one another through long-range chromatin interactions. Thus, these non-coding variants may be involved in the expression of a candidate gene and therefore, serve as possible therapeutic targets for treating diseases in which the expression fo the candidate gene is dysreguated. A non-coding variant can be linked to a candidate gene by analyzing datasets including chromatin accessibility data (e.g., ATAC-seq data), protein-chromatin binding site pairing data, and/or chromatin contact profile. For example, a non-coding variant can be linked to a candidate gene by identifying an enhancer-promoter loop through a long range chromatin interaction. As another example, a non-coding variant can be linked to a candidate gene through a statistical eQTL analysis.

Abstract: The invention relates to a double-stranded ribonucleic acid (dsRNA) targeting a G-alpha q subunit (GNAQ) of a heterotrimeric G gene, and methods of using the dsRNA to inhibit expression of GNAQ.

Abstract: The present invention provides phenothiazine compounds, processes for their preparation, pharmaceutical compositions comprising the compounds, and the use of the compounds or the compositions in the treatment of various diseases or conditions, for example ribosomal disorders and ribosomopathies, e.g. Diamond Blackfan anemia (DBA).

Abstract: The technology described herein relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the Serpina 1 gene, and methods of using such dsRNA compositions to inhibit expression of Serpina 1.

Abstract: The technology described herein relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the Serpina1 gene, and methods of using such dsRNA compositions to inhibit expression of Serpina1.

Abstract: The present invention provides methods and compositions for the treating a patient with a urea cycle disorder. Methods and compositions are also provided for modulating genes encoding enzymes that participate in the urea cycle by altering gene signaling networks.

Abstract: This application relates to therapeutic siRNA agents and methods of making and using the agents.

Abstract: The present invention provides methods and compositions for the treating a patient with one or more conditions associated with PNPLA3 such as nonalcoholic fatty liver disease (NAFLD) nonalcoholic steatohepatitis (NASH), and/or alcoholic liver disease (ALD). Methods and compositions are also provided for modulating the expression of the PNPLA3 gene in a cell by altering gene signaling networks.