17 results about "Human genetics" patented technology

The present invention relates to the field of human genetics, and more particularly to the treatment of diseases or conditions associated with abnormal processing of the amyloid precursor protein (APP), preferably familial Alzheimer's disease (FAD). In particular, the present invention relates to antisense oligonucleotides (AONs) useful for the treatment of such diseases or disorders.

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.

Disclosed are split complementary base editing systems based on bimolecular deaminases and uses thereof. A split complementary base editing system mainly includes base editing fusion proteins A and B that are from splitting at a deaminase domain embedded inside a Cas9 nickase (nCas9), and a guide RNA (gRNA). The present disclosures of split complementary cytosine base editing systems can greatly reduce Cas9-dependent and Cas9-independent off-target effects in the genome while maintaining robust on-target cytosine base editing. The present disclosures also provide the split complementary adenine base editing systems. The split complementary cytosine (adenine) base editing systems are widely applicable to various eukaryotic organisms, and can be used in crop genetic breeding, animal breed improvement, and even clinical treatment of human genetic diseases.

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 present invention relates to a SDN data plane self-healing method based on a bionic mechanism, belonging to the field of communication technology. The solution solves the problem that fault recovery cannot be performed efficiently and quickly in traditional networks. The present invention is based on the human genetic mechanism and uses an improved genetic algorithm to calculate the primary / backup path; then, by utilizing the Fast Failover group table rule characteristics, a set of flow table rules are designed by imitating human blood vessels, so that the method can achieve network self-healing without the controller participating in fault recovery. The present invention is an efficient data plane protection method that can be deployed in an SDN network.

The invention discloses a mutant gene of a gm15262 gene and application of the mutant gene, and belongs to the technical field of molecular biology and medicine. The CDS sequence of the mutant gene of the gm15262 gene is shown as SEQ ID NO.1, and compared with the CDS sequence of a normal human source gm15262 gene, the CDS sequence of the mutant gene of the gm15262 gene is subjected to c.C338T (p.P113L) mutation. A male sterility animal model can be constructed by enabling corresponding sites of the animal gm15262 gene to be subjected to same mutation, when the animal model is a mouse model, a male sterility mouse model can be obtained by enabling the gm15262 gene of a mouse to be subjected to c.C305T (p.P102L) mutation, and the mouse model is used for accurately simulating pathogenic mutation of human genetic diseases. And a key experimental platform is provided for development of gene therapy, targeted drug screening and germ cell editing research. The invention has important significance in diagnosis and treatment of male infertility.

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 provides a tent5d gene mutation and application thereof, and belongs to the technical field of molecular biology and medicine. The CDS sequence of the mutant gene of the tent5d gene is as shown in SEQ ID NO.1, and compared with the CDS sequence of a normal human TENT5D gene, the CDS sequence of the mutant gene of the tent5d gene has c.C555G (p.D185E) mutation. A male sterility animal model can be constructed by enabling corresponding sites of animal tent5d genes to be subjected to same mutation, when the animal model is a mouse model, the tent5d genes of a mouse are subjected to c.T555G (p.D185E) mutation to obtain a male sterility mouse model, and the mouse model can be used for accurately simulating pathogenic mutation of human genetic diseases. And a key experimental platform is provided for development of gene therapy, targeted drug screening and germ cell editing research. The invention has important significance in diagnosis and treatment of male infertility.

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.

A method and system for obtaining and controlling non-human genetic identification information are disclosed. The method includes providing identifying information of a plant, a non-human animal, or a living plant or animal product to a secure website using an electronic communication device; taking a genetic material-containing sample from the plant, animal or living product; providing the genetic material-containing sample to a genetic material analysis facility; analyzing the genetic material at a plurality of loci to produce a genetic identity for the plant, animal or living product; recording the identifying information and the genetic identity in a blockchain ledger; and enabling a user to display on an electronic communication device a code corresponding to the genetic identity. The system includes a genetic material sampling kit, an optional DNA analysis kit, and electronic communication device(s) configured to enter the plant's, animal's or living product's identification information, record the identification information and the genetic identity in the blockchain ledger, and display a code corresponding to the genetic identity.

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.

A system and analysis procedure for identifying human biological material,” which includes a fingerprint reader device that captures the biometric data of the fingerprints from the subject under analysis, verifying the identity of each sample. It incorporates artificial intelligence (AI) that not only performs pattern recognition but also generates a unique identification parameter for each analysis. Additionally, the system encrypts the data to protect the identity of each study. The procedure involves collecting a sample of epithelial cells from the hands of the subject under analysis using an adhesive film device. The collected samples are processed using a DNA extraction and purification kit to conduct the sequencing of the DNA sample and generate a DNA profile. This process converts the characteristics of human genetic material into a DNA sequence.

The present application provides materials and methods for treating hemoglobinopathies. More specifically, the application provides methods for producing progenitor cells that are genetically modified via genome editing to increase the production of fetal hemoglobin (HbF), as well as modified progenitor cells (including, for example, CD34+ human hematopoietic stem cells) producing increased levels of HbF, and methods of using such cells for treating hemoglobinopathies such as sickle cell anemia and β-thalassemia.

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.