Mutation: the changing of the structure of a gene, resulting in a variant form that may be transmitted to subsequent generations, caused by the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes.
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...
DATE: November 20, 2018TIME: 07:00 PSTSince its original development (2008) COLD-PCR has been used by several groups for increasing the sensitivity of mutation detection in di...
Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Using human genetics approaches, we recently identified bi-allelic truncatin...
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...
The use of human pluripotent stem cells (hPSCs) for in vitro disease-modeling is limited by the lack of robust and efficient protocols for the differentiation of relevant adult cell types. Pr...
Development of physiologically relevant cellular models, with strong translatability to human pathophysiology, is critical for identification and validation of novel therapeutic targets. Cell...
With significant decrease in the cost of sequencing in numerous commercial as well as cancer center–driven initiatives, genomic profiling is increasingly becoming routine across multipl...
DATE: October 31, 2018TIME: 8:00AM PDTChromatin immunoprecipitation (ChIP) is a technique researchers employ to obtain a snapshot of protein-DNA interactions in the cell. ChI...
DATE: October 23, 2018TIME: 10:00am PDT, 1:00pm EDT Next-generation genomic sequencing is transforming what is known about pediatric cancer and how we treat patients. But eve...
Recent work has identified epigenomic features of distal regulatory elements to be dynamic and defining indicators of cellular specification and transformation. Of particular relevance is our...
Lung cancer is the leading cause of cancer-related mortality worldwide. Large-scale sequencing studies have revealed the complex genomic landscape of NSCLC and genomic differences between lun...
The oncogenic transcription factor c-MYC (MYC) is deregulated, and often overexpressed, in more than 50% of cancers. MYC deregulation is associated with poor prognosis and aggressive disease,...
Decoding human genetic disease allows us to develop models of the pathology that can be directly tested with gene correction or targeted drug therapy. Dominant negative mutations are pa...
Every year, approximately 800,000 critically ill patients are hospitals in the USA with undiagnosed infections. The only option is to treat these patients with broad-spectrum antimicrobial th...
The WHO has set ambitious targets for eliminating TB in low-incidence countries such as the US and Canada. While it’s true that the majority of TB cases in these settings arise from rea...
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...
DATE: November 20, 2018TIME: 07:00 PSTSince its original development (2008) COLD-PCR has been used by several groups for increasing the sensitivity of mutation detection in di...
Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Using human genetics approaches, we recently identified bi-allelic truncatin...
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...
The use of human pluripotent stem cells (hPSCs) for in vitro disease-modeling is limited by the lack of robust and efficient protocols for the differentiation of relevant adult cell types. Pr...
Development of physiologically relevant cellular models, with strong translatability to human pathophysiology, is critical for identification and validation of novel therapeutic targets. Cell...
With significant decrease in the cost of sequencing in numerous commercial as well as cancer center–driven initiatives, genomic profiling is increasingly becoming routine across multipl...
DATE: October 31, 2018TIME: 8:00AM PDTChromatin immunoprecipitation (ChIP) is a technique researchers employ to obtain a snapshot of protein-DNA interactions in the cell. ChI...
DATE: October 23, 2018TIME: 10:00am PDT, 1:00pm EDT Next-generation genomic sequencing is transforming what is known about pediatric cancer and how we treat patients. But eve...
Recent work has identified epigenomic features of distal regulatory elements to be dynamic and defining indicators of cellular specification and transformation. Of particular relevance is our...
Lung cancer is the leading cause of cancer-related mortality worldwide. Large-scale sequencing studies have revealed the complex genomic landscape of NSCLC and genomic differences between lun...
The oncogenic transcription factor c-MYC (MYC) is deregulated, and often overexpressed, in more than 50% of cancers. MYC deregulation is associated with poor prognosis and aggressive disease,...
Decoding human genetic disease allows us to develop models of the pathology that can be directly tested with gene correction or targeted drug therapy. Dominant negative mutations are pa...
Every year, approximately 800,000 critically ill patients are hospitals in the USA with undiagnosed infections. The only option is to treat these patients with broad-spectrum antimicrobial th...
The WHO has set ambitious targets for eliminating TB in low-incidence countries such as the US and Canada. While it’s true that the majority of TB cases in these settings arise from rea...
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