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.
Intra-tumor heterogeneity is a major obstacle to cancer treatment. Existing single-cell studies of intra-tumor heterogeneity have largely focused on DNA mutations; functional heterogeneity is...
Real-time multiplex PCR assays are potentially the most rapid, most sensitive,and least expensive way to assess the abundance of mutant DNA fragments present in liquid biopsies; provided th...
Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and va...
PrPC is a conserved lipid-raft associated, GPI-anchored cell membrane glycoprotein. Misfolding of cellular PrPC into the pathogenic PrPSc results in Prion disease, an untreatable and fatal ne...
The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
In the last 10 years, PCSK9 emerged as a promising target for the treatment of autosomal dominant hypercholesterolemia (ADH). With the emergence of induced pluripotent stem (hiPS) cells and f...
DATE: August 11, 2016
TIME: 11:00AM PST, 2:00PM ET, 7:00PM GMT
The central dogma that forms the backbone of molecular biology is that DNA codes for RNA (transcription) which then c...
Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions. Interpretation of a cancer variant’s origin and therapeutic impact poses a...
The biological state of the cell is characterized by a complex network of interacting genes, gene products, proteins, microRNAs, as well as other molecules. Microarrays and next generation se...
Wolframin is a major protein of the endoplasmic reticulum, it is expressed in most tissues and clinical data demonstrate its significant connection to diabetes mellitus. L...
Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
Cancer remains the second leading cause of death in the United States. Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival. Ident...
The advent of personalized medicine employing molecular targeted therapies has markedly changed the treatment of cancer in the past 10 years. Although tumor tissue biopsy-based genotyping is...
DATE: March 31, 2016
TIME: 8am PT, 11am ET, 4pm GMT
In this webinar, you will learn:
Basics of homology-directed repair (HDR) using CRISPR-Cas9
Selection of CRISP...
A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
Precision medicine promises a more effective approach to disease treatment and management. It is based on analyzing mutations of disease samples to unlock mechanisms of disease development an...
Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
Next-generation sequencing has emerged as a valuable tool for generating patient-specific genetic information for clinical diagnostics and optimal selection of targeted therapies. The heterog...
DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
Matching the mutational profile of a patient's tumor with appropriate targeted agents is a goal of personalized medicine in oncology. The number of FDA-approved targeted therapies, as well as...
Germline cancer genetics became a reality with the cloning of the tumor suppressor gene RB1 for hereditary retinoblastoma in 1986 by Friend and Weinberg. The existence of cancer susceptibili...
Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
Intra-tumor heterogeneity is a major obstacle to cancer treatment. Existing single-cell studies of intra-tumor heterogeneity have largely focused on DNA mutations; functional heterogeneity is...
Real-time multiplex PCR assays are potentially the most rapid, most sensitive,and least expensive way to assess the abundance of mutant DNA fragments present in liquid biopsies; provided th...
Despite FDA-approved vaccines and antivirals, seasonal and pandemic influenza remains a serious threat associated with substantial morbidity and mortality. The present modalities and va...
PrPC is a conserved lipid-raft associated, GPI-anchored cell membrane glycoprotein. Misfolding of cellular PrPC into the pathogenic PrPSc results in Prion disease, an untreatable and fatal ne...
The isolation of human embryonic stem cells (hESCs) and the discovery of human induced pluripotent stem cell (hiPSC) reprogramming have sparked a renaissance in stem cell biology, in vitro di...
The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
In the last 10 years, PCSK9 emerged as a promising target for the treatment of autosomal dominant hypercholesterolemia (ADH). With the emergence of induced pluripotent stem (hiPS) cells and f...
DATE: August 11, 2016
TIME: 11:00AM PST, 2:00PM ET, 7:00PM GMT
The central dogma that forms the backbone of molecular biology is that DNA codes for RNA (transcription) which then c...
Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions. Interpretation of a cancer variant’s origin and therapeutic impact poses a...
The biological state of the cell is characterized by a complex network of interacting genes, gene products, proteins, microRNAs, as well as other molecules. Microarrays and next generation se...
Wolframin is a major protein of the endoplasmic reticulum, it is expressed in most tissues and clinical data demonstrate its significant connection to diabetes mellitus. L...
Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
Cancer remains the second leading cause of death in the United States. Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival. Ident...
The advent of personalized medicine employing molecular targeted therapies has markedly changed the treatment of cancer in the past 10 years. Although tumor tissue biopsy-based genotyping is...
DATE: March 31, 2016
TIME: 8am PT, 11am ET, 4pm GMT
In this webinar, you will learn:
Basics of homology-directed repair (HDR) using CRISPR-Cas9
Selection of CRISP...
A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
Precision medicine promises a more effective approach to disease treatment and management. It is based on analyzing mutations of disease samples to unlock mechanisms of disease development an...
Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
Next-generation sequencing has emerged as a valuable tool for generating patient-specific genetic information for clinical diagnostics and optimal selection of targeted therapies. The heterog...
DATE: September 9, 2015TIME: 9:00am PDT, 12:00PM EDTDriver mutations are causally implicated in tumorigenesis and disease progression, and they are defined by molecular abnormalities such as ...
Matching the mutational profile of a patient's tumor with appropriate targeted agents is a goal of personalized medicine in oncology. The number of FDA-approved targeted therapies, as well as...
Germline cancer genetics became a reality with the cloning of the tumor suppressor gene RB1 for hereditary retinoblastoma in 1986 by Friend and Weinberg. The existence of cancer susceptibili...
Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
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