8 results about "Human genetics" patented technology

Compositions and methods relating to a pharmacological therapy for a human genetic disease, specifically mitochondrial DNA depletion-deletions syndromes, and more specifically, those related to mutations in the GUK1 gene. The pharmacological therapy involves the administration of deoxyguanosine (dG), a purine nucleoside phosphorylase (PNP) inhibitor, including but not limited to forodesine, or both.

A method is provided for predicting a disease outcome using a machine learning model that generates training data for training the machine learning model useful for implementing a cellular disease model.SOLUTION: A method for predicting a disease outcome using a machine learning model includes implementing an ML-enabled cellular disease model to validate an intervention, identifying a patient population likely to be a responder to the intervention, and developing a therapeutic structure activity relationship screen. To generate a cellular disease model, data from human genetic cohorts, the literature, and generic cellular or tissue-level genomic data are combined to elucidate a set of factors (e.g., genetic, environmental, cellular factors) that cause a particular disease. A series of factors are used to manipulate invitro cells to generate training data for training a machine learning model useful for implementing a cellular disease model.SELECTED DRAWING: FIG. 1B

This invention relates to the fields of molecular biology and human genetic disease detection; specifically, it relates to a reference standard for methylmalonic acidemia and its application. The reference standard comprises positive reference cells with MMACHC gene mutation sites. The genome of the positive reference cells contains one or more combinations of specific mutation sites of the following MMACHC genes: c.609G>A, c.567insT, c.658_660delAAG, c.482G>A, c.1A>G, c.80A>G, c.217C>T, c.315C>G, and c.394C>T. This reference standard provides reliable technical support for the accurate detection of methylmalonic acidemia, especially MMACHC gene-related mutations, and is of great significance in improving detection accuracy and promoting detection standardization.

The invention discloses a human genetic resource management full-process management and control risk assessment method and system, and belongs to the technical field of machine learning. The method comprises the following steps: extracting a key field in an application report; on the basis of the key field, generating a vector representation of the application report based on a set risk dimension and decision rule description of an index under the risk dimension; and performing classification based on the vector representation of the application report to obtain a risk assessment result of the application report. According to the invention, structured output, visual presentation and dynamic optimization of project risks can be realized, and scientificity, accuracy and compliance of examination and approval decisions are improved.

The invention relates to the field of human genetics, more specifically to treatments for a disease or condition associated with an abnormal processing of the Amyloid Precursor Protein (APP), preferably familiar Alzheimer disease (FAD). The invention in particular relates to antisense oligonucleotides (AON's) that can be used for treating such diseases or conditions.

The invention relates generally to a method of treatment for a human genetic disease, such as diseases characterized by unbalanced nucleotide pools, e.g., mitochondrial DNA depletion syndromes, and more specifically, thymidine kinase 2 (TK2) deficiency, using gene therapy. The gene therapy may involve administration of one or more constructs, such as a viral vector, containing a nucleic acid encoding a functional protein. The functional protein may correspond to a nuclear gene. For treatment of TK2 deficiency, the gene therapy may involve administration of one or more constructs, such as a viral vector, containing a nucleic acid encoding a functional TK2 enzyme. The treatment may also involve the administration of pharmacological therapy in conjunction with the gene therapy. The treatment protocols of the disclosure, such as those involving gene therapy alone or in combination with pharmacological therapy, can be used to treat, prevent, and / or cure various other disorders of unbalanced nucleoside pools, especially those found in mitochondrial DNA depletion syndrome.

The invention discloses a detection method for distinguishing human genetic materials based on a nanopore sequencing technology and a DNA bar code technology. The detection method is characterized by comprising the following steps: (1) extracting total nucleic acid of a sample to be detected; (2) carrying out PCR (Polymerase Chain Reaction) amplification on a sample to be detected by adopting the degenerate primer; and (3) sequencing the PCR product based on a nanopore sequencing technology, and determining whether the to-be-detected sample contains the human genetic material based on a sequencing result. Primer design and optimization are carried out according to the COI gene of human mtDNA, compared with a general identification primer for mammals, the capture capacity of the human COI gene is improved, meanwhile, a sequencing experiment process suitable for on-site rapid detection is developed, enough data can be obtained by computer sequencing for 10 minutes, and then comparison with a known sequence is carried out.

This disclosure provides a bacterial or yeast cell comprising a heterologous gene encoding an enzyme that is substituted for the endogenous bacterial or yeast counterpart gene. In one aspect, the heterologous gene encodes a human enzyme related to a human metabolic disorder, e.g., human glucose-6-phosphate isomerase (GPI), glucose 6-phosphate dehydrogenase (G6PD), or human argininosuccinate lysase (ASL) or a mutant or variant of each thereof. This disclosure addresses the limitation of current drug discovery methods that often rely on testing human enzymes in artificial settings. In one aspect, it provides a simpler, quicker, and more cost-effective way to test drugs in a living organism that mimics some human cellular conditions.