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Gene mutations
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.
OCT 30, 2014 | 10:30 AM
Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
OCT 30, 2014 | 9:00 AM
Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
OCT 30, 2014 | 6:00 AM
When the BCR/ABL1 fusion protein was identified in chronic myelogenous leukemia and the JAK2 V617F mutation was identified in patients with other myeloproliferative neoplasms (MPNs) such as p...
OCT 29, 2014 | 3:00 PM
Over the last decade we have witnessed tremendous advances in our understanding of the underlying molecular alterations in human cancer. This has stimulated excitement for our ability to deve...
OCT 29, 2014 | 1:30 PM
Patient-derived xenograft (PDX) models can recapitulate patient tumor histopathology, mutational status, gene expression patterns, and drug response with remarkable fidelity. At The Jackson L...
SEP 24, 2014 | 6:00 AM
Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disease occurring in 1 in 3,500 births, and is uniformly fatal in boys. It is caused by any one of over 50 known mutations in the gen...
SEP 16, 2014 | 9:30 AM
Late-stage drug attrition rates in oncology remain higher than in other therapeutic areas. To reduce attrition, it is critical to identify appropriate drug targets and pre-clinical models. Th...
AUG 21, 2014 | 9:45 AM
In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
AUG 20, 2014 | 11:45 AM
The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more compre...
AUG 20, 2014 | 10:45 AM
A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
AUG 20, 2014 | 8:45 AM
The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chi...
AUG 20, 2014 | 8:30 AM
Next-generation sequencing (NGS) has revolutionized extraction of genomic information, facilitating rapid advances in the fields of clinical research and molecular diagnostics. However, c...
AUG 20, 2014 | 8:00 AM
One of the hallmarks of human cancers is genetic instability. My colleagues and I recently identified a remarkable association between human papillomavirus (HPV) and genomic structural variat...
MAY 29, 2014 | 12:00 PM
The human genome encodes ~21,500 proteins that are subject to reversible phosphorylation at nearly 1 million phosphosites by about 538 protein kinases and 156 protein phosphatases. Amongst ot...
APR 17, 2014 | 11:00 AM
Formalin Fixation and Paraffin Embedding (FFPE) of tissue samples is a routine practice by pathologists; the technique enables high quality preservation of structural information. However, ...
MAR 20, 2014 | 1:00 PM
Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the dif...
MAR 20, 2014 | 12:00 PM
Alzheimers disease (AD) is a common neurodegenerative disorder characterized clinically by progress decline in memory and thinking and pathologically by the presence of senile plaques and neu...
MAR 20, 2014 | 7:00 AM
Huntington's disease (HD) is a progressive, inherited, degenerative brain disorder that produces physical, mental and emotional changes. Named for George Huntington, the physician who fi...
FEB 19, 2014 | 10:00 AM
Making precision cancer care a future reality requires novel approachesto finding treatment targets in cancers. Single-gene assays currently performed in clinical research laboratories are in...
FEB 05, 2014 | 4:00 PM
The popularity reached by the genetic manipulation of laboratory animals to create new models for studying human diseases, produced in turn, that the techniques for assisted reproduction cons...
