Gene mutations describe a change in the DNA sequence that makes up a gene. There are many kinds of gene mutations which have been characterized by scientists. The main categories of mutations are germline mutations, which occur in the gametes (haploid male or female reproductive cells), and somatic mutations, occur in all other cell types. Chromosomal alterations are mutations that change the structure of chromosomes in a variety of ways such as deletion, duplication, insertion, translocation, or inversion of a section of the chromosome. Point mutations include a single nucleotide change within the DNA and these mutations can be classified as silent (the mutation codes for the same amino acid so the change has no effect), missense (the mutation codes for an alternative amino acid), and nonsense (the mutation codes for a premature stop codon). Frameshift mutations occur when the addition or deletion of nucleotide(s) alter the reading frame of the sequence altering all subsequent amino acid coding.
Novel precision genetic technologies such as CRISPR/Cas9 genome editing technology offer novel avenues to a better understanding the mechanisms of diseases. Using CRISPR/Cas9 we are able to p...
CRISPR-Cas9 based gene editing is a powerful tool which can induce heritable mutations at desired genomic loci without leaving transgenic trace in plants. Here we constructed a robust, multip...
CRISPR/Cas9 technology has become very popular in the last 5 years and has profoundly changed our way to do genetically engineered animals. I will present the latest development in genome edi...
Insects are the largest and most diverse arthropod group. Many insect species are agricultural pests or vectors of numerous diseases. In fact, the mosquito is the deadliest animal on the eart...
DATE: October 1, 2019TIME: 10:00am PDTThe toxicological testing market is no stranger to the principle of the three Rs of research: replacement, reduction, and refinement. With that to...
Early detection is critical for improved survival in melanoma. Melanocytic nevi are extremely common benign tumors that mimic melanoma and are therefore commonly biopsied. Currently, the dete...
Background: The vast majority of all genes are contained within the genomes of the prokaryotes, including the eubacteria and the archaea. These largely single-cellular domains of life thus...
DATE: August 27, 2019 TIME: 9:00am PDT, 12:00pm EDT Immunotherapies targeting PD-1 or PD-L1 have proven remarkably effective for treating cancer in some patients, with considerabl...
The long term goal of our collaborative effort is to bring precision medicine to the practice of veterinary oncology, using the wealth of genomic data gathered in human cancers as a roadmap....
Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
Virtually all tumors are genetically heterogeneous, containing subclonal populations of cells that are defined by distinct mutations. Subclones can have unique phenotypes that influence disea...
Speculations that some form DNA alteration might be utilized by the brain date to the 1960s [1] wherein hypotheses for genomic alterations of germline DNA were proposed for immunoglobulins an...
The advent of precision medicine largely depends on the creation of precise and accurate predictive tools. While most late-onset diseases are moderately to highly heritable, using genetic inf...
Genetic drivers of cancer can be dysregulated through epigenetic modifications of DNA. Although the critical role of DNA 5-methylcytosine (5mC) in the regulation of transcription is recognize...
Myeloid leukemias encompass a group of different diseases that include myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). These diseases are d...
The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become com...
Rapid, inexpensive, and sensitive nucleic acid detection may aid point-of-care pathogen detection, genotyping, and disease monitoring. We combine the RNA- targeting CRISPR effector Cas13 with...
Batten disease or the Neuronal Ceroid Lipofuscinoses (NCLss) are each the result of inherited mutations that result in lysosomal dysfunction. Some of these disorders are due to deficiencies i...
Late-onset Alzheimer’s disease (LOAD) is the most common form of dementia worldwide. To date, animal models of Alzheimer’s have focused on rare familial mutations, due to a lack o...
Joshua Gordon, M.D., Ph.D., Director of the National Institute of Mental Health, will provide an overview of challenges and opportunities in mental health research. Dr. Gordon will present em...
Advanced Cell Diagnostics’ RNAscope products and assay services are utilized widely for tissue-based gene expression analysis in early target validation, preclinical animal efficacy and...
Second harmonic generation (SHG) is a biophysical method that sensitively measures real-time conformational change of biomolecules attached to membranes. SHG has recently been applied to dete...
CRISPR ribonucleoproteins (RNPs) can generate programmable gene edits, however imprecise editing and efficient delivery to human stem cells are key challenges. Here we describe novel biochemi...
Novel precision genetic technologies such as CRISPR/Cas9 genome editing technology offer novel avenues to a better understanding the mechanisms of diseases. Using CRISPR/Cas9 we are able to p...
CRISPR-Cas9 based gene editing is a powerful tool which can induce heritable mutations at desired genomic loci without leaving transgenic trace in plants. Here we constructed a robust, multip...
CRISPR/Cas9 technology has become very popular in the last 5 years and has profoundly changed our way to do genetically engineered animals. I will present the latest development in genome edi...
Insects are the largest and most diverse arthropod group. Many insect species are agricultural pests or vectors of numerous diseases. In fact, the mosquito is the deadliest animal on the eart...
DATE: October 1, 2019TIME: 10:00am PDTThe toxicological testing market is no stranger to the principle of the three Rs of research: replacement, reduction, and refinement. With that to...
Early detection is critical for improved survival in melanoma. Melanocytic nevi are extremely common benign tumors that mimic melanoma and are therefore commonly biopsied. Currently, the dete...
Background: The vast majority of all genes are contained within the genomes of the prokaryotes, including the eubacteria and the archaea. These largely single-cellular domains of life thus...
DATE: August 27, 2019 TIME: 9:00am PDT, 12:00pm EDT Immunotherapies targeting PD-1 or PD-L1 have proven remarkably effective for treating cancer in some patients, with considerabl...
The long term goal of our collaborative effort is to bring precision medicine to the practice of veterinary oncology, using the wealth of genomic data gathered in human cancers as a roadmap....
Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
Virtually all tumors are genetically heterogeneous, containing subclonal populations of cells that are defined by distinct mutations. Subclones can have unique phenotypes that influence disea...
Speculations that some form DNA alteration might be utilized by the brain date to the 1960s [1] wherein hypotheses for genomic alterations of germline DNA were proposed for immunoglobulins an...
The advent of precision medicine largely depends on the creation of precise and accurate predictive tools. While most late-onset diseases are moderately to highly heritable, using genetic inf...
Genetic drivers of cancer can be dysregulated through epigenetic modifications of DNA. Although the critical role of DNA 5-methylcytosine (5mC) in the regulation of transcription is recognize...
Myeloid leukemias encompass a group of different diseases that include myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). These diseases are d...
The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become com...
Rapid, inexpensive, and sensitive nucleic acid detection may aid point-of-care pathogen detection, genotyping, and disease monitoring. We combine the RNA- targeting CRISPR effector Cas13 with...
Batten disease or the Neuronal Ceroid Lipofuscinoses (NCLss) are each the result of inherited mutations that result in lysosomal dysfunction. Some of these disorders are due to deficiencies i...
Late-onset Alzheimer’s disease (LOAD) is the most common form of dementia worldwide. To date, animal models of Alzheimer’s have focused on rare familial mutations, due to a lack o...
Joshua Gordon, M.D., Ph.D., Director of the National Institute of Mental Health, will provide an overview of challenges and opportunities in mental health research. Dr. Gordon will present em...
Advanced Cell Diagnostics’ RNAscope products and assay services are utilized widely for tissue-based gene expression analysis in early target validation, preclinical animal efficacy and...
Second harmonic generation (SHG) is a biophysical method that sensitively measures real-time conformational change of biomolecules attached to membranes. SHG has recently been applied to dete...
CRISPR ribonucleoproteins (RNPs) can generate programmable gene edits, however imprecise editing and efficient delivery to human stem cells are key challenges. Here we describe novel biochemi...
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