105 results about "Genetics disease" patented technology

A method of producing a homogenous population of homozygous stem (HS) cells pre-selected for immunotype and / or genotype from donor cells is described herein. The invention relates to methods of using immunohistocompatible HS cells for diagnosis, therapeutic and cosmetic transplantation, and the treatment of various genetic diseases, neurodegenerative diseases, traumatic injuries and cancer. The invention further relates to methods for using histocompatible HS stem cells pre-selected for a non-disease genotype for prophylactic and therapeutic intervention including, but not limited to, therapeutic and cosmetic transplantation, and the treatment of various genetic diseases, neurodegenerative diseases, and cancer. Furthermore, the invention relates to a catalogued transplant depository of HS cells derived from multiple donors, each of the HS cells being homozygous for a unique HLA haplotype, for the purpose of having a constant, reliable, comprehensive supply of immunohistocompatible cells for diagnosis, treatment and / or transplantation.

The present invention relates to compositions and methods for molecular profiling and diagnostics for genetic disorders and cancer, including but not limited to gene expression product markers associated with cancer or genetic disorders. In particular, the present invention provides algorithms and methods of classifying cancer, for example, thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.

The present disclosure relates to methods for detecting unique genetic signatures derived from markers such as, for example, mutations, somatic or germ-line, in nucleic acids obtained from biological samples. The sensitivity of the methods provides for detection of mutations associated with a disease, e.g., cancer mutations, or with inherited disease, e.g., an autosomal recessive disease, in a noninvasive manner at ultra-low proportions of sequences carrying mutations to sequences carrying normal, e.g., non-cancer sequences, or a reference sequence, e.g., a human reference genome.

The present invention discloses a non-human animal model for a hereditary autosomal dominant disease. The non-human animal model expresses at least one phenotype associated with the disease and is obtained by a genetic determinant. The invention also relates to sperm cells and embryos comprising the genetic determinant for an autosomal dominant disease. Furthermore, methods for producing the non-human animal model, sperm cell, and embryos are disclosed.

The invention relates to a method for simultaneously completing gene loci, chromosomes and linkage analysis, specifically including the acquisition of embryonic cell samples, whole genome amplification, target gene mutation site amplification, whole genome amplification products and target gene mutation sites The main steps of database construction, high-throughput sequencing and data analysis, through the use of whole genome amplification technology combined with high-throughput sequencing, multiple comprehensive tests can be completed in one step, avoiding the use of multiple methods and steps for single-gene genetic diseases Detection of mutation sites, chromosomal disorders and linkage analysis. The method provided by the present invention provides favorable conditions for micro-sample, not only can be used for PGD detection to determine whether the embryo carries a disease-causing gene and abnormal chromosome copy number; it is also suitable for genetic screening of embryos of recurrent miscarriages and elderly women, realizing a Steps to complete multiple detections of a single sample. Because of its simple operation, short period and strong feasibility, it is beneficial to popularization and application.