10 results about "Hereditary Diseases" patented technology

The present invention relates to a novel lipid compound for tissue-specific delivery, and a lipid nano-particle (LNP) composition comprising the same, the lipid nano-particle comprising a modified lipid compound as a component, according to the present invention, internal active substances are selectively delivered into cells of specific tissues such as lymph nodes, spleen, retina, cancer, brain, liver and the like in vivo, thereby preventing side effects and safely exhibiting a desired level of effect. The tissue-specific non-viral LNP delivery vectors can be effectively used for prevention of infectious diseases and treatment of rare and refractory (hereditary) diseases (diseases which are effectively and selectively delivered to in-vivo targeted sites, such as macular degeneration, diabetic retinal degeneration, hereditary retinal degeneration, cancer, cerebral diseases, liver diseases and the like).

Isoquinoline compounds for treating various diseases and pathologies are disclosed. More particularly, the present invention concerns the use of an isoquinoline compound or analogs thereof, in the treatment of disorders characterized by the activation of Wnt pathway signaling (e.g., cancer, abnormal cellular proliferation, angiogenesis, fibrotic disorders, bone or cartilage diseases, and osteoarthritis), the modulation of cellular events mediated by Wnt pathway signaling, as well as genetic diseases and neurological conditions / disorders / diseases due to mutations or dysregulation of the Wnt pathway and / or of one or more of Wnt signaling components. Also provided are methods for treating Wnt-related disease states.

The invention relates to a CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) mediated gene transcription activation (CRISPRa) system and an application thereof, and preferably relates to a gene transcription activation system (miniCRISPRa system) based on miniCas and an application thereof. According to the present invention, the small Cas protein and the transcriptional activation structural domain VP64 are adopted, and the multimerization peptide fragment is adopted to rapidly collect the large amount of VP64 to the target gene, such that the miniCRISPRa system with characteristics of small molecular weight, high efficiency, no preference and easy delivery is developed so as to achieve the efficient transcriptional activation of the target gene; the invention also relates to an application of the CRISPRa system in treating hereditary diseases and tumors or delaying senescence.

Indazole compounds for treating various diseases and pathologies are disclosed. More particularly, the present invention concerns the use of an indazole compound or analogs thereof, in the treatment of disorders characterized by the activation of Wnt pathway signaling (e.g., cancer, abnormal cellular proliferation, angiogenesis, Alzheimer's disease, lung disease and osteoarthritis), the modulation of cellular events mediated by Wnt pathway signaling, as well as genetic diseases and neurological conditions / disorders / diseases due to mutations or dysregulation of the Wnt pathway and / or of one or more of Wnt signaling components. Also provided are methods for treating Wnt-related disease states.

The invention provides a probe composition, a gene chip, a reagent, a kit and application. The probe composition is designed based on capture areas of 34 genes related to dominant single-gene genetic diseases, can be used for non-invasive prenatal genetics screening, and is suitable for prenatal screening of genetic variation positive family history, bad fertility history, fetal ultrasound examination abnormality, pregnant woman elderly, father elderly and the like. The omission ratio and the birth rate of fetuses suffering from the dominant single-gene hereditary disease are effectively reduced.

This invention relates to an IRAK4 degrading agent and its uses. This degrading agent can be used to treat or prevent diseases such as cancer, neurodegenerative diseases, viral diseases, autoimmune diseases, inflammatory diseases, hereditary diseases, hormone-related diseases, metabolic diseases, organ transplant-related diseases, immunodeficiency diseases, destructive bone diseases, proliferative diseases, infectious diseases, cell death-related conditions, thrombin-induced platelet aggregation, liver diseases, pathological immune conditions involving T cell activation, cardiovascular diseases, or CNS diseases.

This disclosure provides isolated nucleic acid molecules comprising nucleic acid sequences encoding microbial polypeptides that are codon optimized for expression in mammalian cells, vectors comprising an immunotolerant dual promoter system, and methods using these polynucleotides and polypeptides to treat glycogen storage diseases and other inherited diseases.

This disclosure relates to Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3), an autosomal dominant neurodegenerative disorder caused by excessive repetition of the polyglutamine-coding region in the ataxia protein-3 (ATXN3) gene. The extended ATXN3 readily aggregates and interferes with multiple cellular systems, ultimately leading to cellular dysfunction and death in specific neuronal populations. To date, no treatments have been developed that can reverse or delay the progression of MJD / SCA3. Strategies based on inhibiting harmful gene products have shown promising results in preclinical studies. However, these strategies do not target the root cause of the disease, producing incomplete and / or transient therapeutic effects in target cells or tissues. Recently, gene-based therapies, including the CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) system for gene editing, have been successfully used to permanently inactivate and correct disease-related genes, offering hope for the development of curative therapies for hereditary diseases.

This article specifically provides an expression system capable of regulating the expression of target genes. In an embodiment, the expression system silences the expression of the endogenous form of the gene and induces the expression of a recombinant form of the gene. The expression system provided herein is intended to be effective in treating hereditary diseases.

The invention relates to an IRAK4 degradation agent and application thereof. The degrading agent can be used for treating or preventing cancer, neurodegenerative diseases, viral diseases, autoimmune diseases, inflammatory diseases, hereditary diseases, hormone-related diseases, metabolic diseases, diseases related to organ transplantation, immunodeficiency diseases, destructive bone diseases, proliferative diseases, infectious diseases, conditions related to cell death, and the like. Thrombin-induced platelet aggregation, liver diseases, pathological immune conditions involving T cell activation, cardiovascular diseases or CNS diseases, etc.