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.
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...
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...
DATE: August 9, 2018TIME: 8:00am PDT, 11:00am EDT Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive...
DATE: August 7, 2018TIME: 08:00AM PDT, 11:00AM EDTWe are currently at an exciting precipice in clinical oncology management, where an increased rate of biomarker identification is drivi...
The introduction of targeted therapies into the clinical management of lung adenocarcinoma has had a massive impact on patient care. Multiple driver mutations are now druggable and treatments...
With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for clinical support tools that aid clinicians in their decision making. To this...
I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
In genomics, as in life, you need to be in the right place at the right time, and you need integrity, to be credible. Since the availability of the human genome sequence, there's been an...
Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide. Until recently, prostate cancer was not felt to be a hereditary disease. ...
Autism spectrum disorder (ASD) is a complex group of individually rare neurological conditions with genetic and non-genetic causes. Despite the strong genetic component of ASD, it has been ve...
The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward prog...
Since its initial description more than 70 years ago, autism spectrum disorder (ASD) has been diagnosed more frequently in boys. However, we remain unsure of why males are affected in greater...
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...
DATE: February 22, 2018TIME: 09:00am PST, 12:00pm EST, 06:00pm CEST(Europe)Colorectal cancer (CRC) develops during a multi-step process from small lesions of the intestinal epithelium....
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG Binding Protein 2 (MECP2) gene. In mouse models of RTT, deficits in long-term potentiation (LTP) at...
The capacity to generate disease-relevant cell populations from human pluripotent stem cells has tremendous potential for shedding light on human disease mechanisms. I will discuss basic prin...
The use of pluripotent stem cells is dramatically altering the R&D landscape, providing new insights into both the basic biology of disease progression and novel cell types for pharmaceut...
DATE: November 29, 2017TIME: 10:00 AM PSTThe three human RAS genes (HRAS, KRAS and NRAS) encode four highly related RAS small GTPases (HRAS, KRAS4A, KRAS4B and NRAS). RAS proteins funct...
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...
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...
DATE: August 9, 2018TIME: 8:00am PDT, 11:00am EDT Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive...
DATE: August 7, 2018TIME: 08:00AM PDT, 11:00AM EDTWe are currently at an exciting precipice in clinical oncology management, where an increased rate of biomarker identification is drivi...
The introduction of targeted therapies into the clinical management of lung adenocarcinoma has had a massive impact on patient care. Multiple driver mutations are now druggable and treatments...
With prospective clinical sequencing of tumors emerging as a mainstay in cancer care, there is an urgent need for clinical support tools that aid clinicians in their decision making. To this...
I will discuss three novel technologies that our laboratory has developed in recent years. In the first part of the talk, I will describe our work on engineering variants of the RNA-guided en...
In genomics, as in life, you need to be in the right place at the right time, and you need integrity, to be credible. Since the availability of the human genome sequence, there's been an...
Prostate cancer is one of the most common cancers in men and a major health issue in the US and Worldwide. Until recently, prostate cancer was not felt to be a hereditary disease. ...
Autism spectrum disorder (ASD) is a complex group of individually rare neurological conditions with genetic and non-genetic causes. Despite the strong genetic component of ASD, it has been ve...
The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward prog...
Since its initial description more than 70 years ago, autism spectrum disorder (ASD) has been diagnosed more frequently in boys. However, we remain unsure of why males are affected in greater...
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...
DATE: February 22, 2018TIME: 09:00am PST, 12:00pm EST, 06:00pm CEST(Europe)Colorectal cancer (CRC) develops during a multi-step process from small lesions of the intestinal epithelium....
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG Binding Protein 2 (MECP2) gene. In mouse models of RTT, deficits in long-term potentiation (LTP) at...
The capacity to generate disease-relevant cell populations from human pluripotent stem cells has tremendous potential for shedding light on human disease mechanisms. I will discuss basic prin...
The use of pluripotent stem cells is dramatically altering the R&D landscape, providing new insights into both the basic biology of disease progression and novel cell types for pharmaceut...
DATE: November 29, 2017TIME: 10:00 AM PSTThe three human RAS genes (HRAS, KRAS and NRAS) encode four highly related RAS small GTPases (HRAS, KRAS4A, KRAS4B and NRAS). RAS proteins funct...
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