Follow
Genetic Disease
Genetic diseases are disorders stemming from mutations in an individual's DNA sequence. These conditions can be a result of mutations in a single or multiple genes. An example of a genetic disease is cystic fibrosis: an inherited, progressive disease that affects the respiratory system.
OCT 17, 2013 | 3:00 PM
C.E. CREDITS
Although genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) associated with cancer, the contribution to risk of these variants is small, rende...
OCT 17, 2013 | 2:00 PM
Copy number variation, a major cause of structural variation in the genome, plays an important role in human disease. Determination of copy number variation requires both precision and accura...
OCT 17, 2013 | 2:00 PM
C.E. CREDITS
Pancreatic cancer is the 4th most common cause of cancer deaths in the United States. Due to the aggressive nature of this cancer and the lack of biomarkers for early detection, the incidence...
OCT 17, 2013 | 12:00 PM
The discovery of proteinaceous disease biomarkers and their clinical validation is critically important for the enablement of molecular diagnostics and ultimately, precision medicine. In spit...
OCT 17, 2013 | 12:00 PM
C.E. CREDITS
Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
OCT 17, 2013 | 8:00 AM
C.E. CREDITS
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
OCT 16, 2013 | 3:00 PM
C.E. CREDITS
Deregulation of ACK1, a non-receptor tyrosine kinase originally identified by its ability to bind to GTP-bound Cdc42 (hence the name: activated Cdc42-associated kinase)(Manser et al., 1993),...
OCT 16, 2013 | 1:00 PM
C.E. CREDITS
The remarkable diversity we see between different cell types in the human body is governed by the specificity attained through transcriptional and epigenetic regulatory programs. Cancer is a...
OCT 16, 2013 | 12:00 PM
The effective implementation of personalised cancer therapeutic regimens depends on the successful identification and translation of informative biomarkers to aid clinical decision making. Th...
OCT 16, 2013 | 11:00 AM
"SuperSelective" primers, by virtue of their unique design, enable only a few molecules of a mutant sequence to generate amplicons in conventional, real-time PCR assays without interference...
OCT 16, 2013 | 11:00 AM
Survival rates for early stage non-small cell lung cancer (NSCLC) remain unacceptably low compared to other common solid tumors. This mortality reflects a weakness in conventional staging, a...
OCT 16, 2013 | 11:00 AM
C.E. CREDITS
Cancer and diabetes are complex diseases that have proven difficult to treat in the clinics. Until recently, most efforts have focused on hitting individual therapeutic targets cleanly. Unfor...
OCT 16, 2013 | 9:00 AM
C.E. CREDITS
It is now appreciated that breast cancer is not a single disease, but instead is a spectrum of tumor subtypes with distinct cellular origins, somatic changes and somewhat predictable clinical...
OCT 16, 2013 | 7:00 AM
C.E. CREDITS
The adjuvant therapy of choice for superficial bladder cancer is the intravesical instillation of live Mycobacterium bovis Bacillus Calmette-Guerin (BCG). In spite of the fact that this thera...
AUG 22, 2013 | 3:00 PM
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
AUG 22, 2013 | 2:00 PM
Since the introduction of second-generation DNS sequencing technologies in 2007, the cost of genome sequencing has been consistently by 33% per quarter, with the $1000 genome arriving in 2012...
AUG 22, 2013 | 1:00 PM
Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
AUG 22, 2013 | 1:00 PM
MicroRNAs are short non-coding cellular regulators of gene expression. Each microRNA controls the expression of a large set of genes, and microRNAs collectively, may regulate more than half o...
AUG 22, 2013 | 12:00 PM
Howard J. Jacob, Ph.D., Founding Director of the Personalized Medicine Program and Human and Molecular Genetics Center and Professor in Physiology and Pediatrics at the Medical College of W...
AUG 22, 2013 | 12:00 PM
C.E. CREDITS
It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
AUG 22, 2013 | 9:00 AM
C.E. CREDITS
There has been considerable debate in the scientific and clinical communities regarding the return of results from genome sequencing to physicians and patients. Questions surrounding which he...
AUG 22, 2013 | 9:00 AM
C.E. CREDITS
During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
AUG 21, 2013 | 4:00 PM
C.E. CREDITS
High throughput transcriptomic analyses have shown that most of the human genome is dynamically transcribed to produce an extraordinary range of overlapping and interlacing intronic, intergen...
AUG 22, 2013 | 1:00 PM
Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
AUG 22, 2013 | 1:00 PM
MicroRNAs are short non-coding cellular regulators of gene expression. Each microRNA controls the expression of a large set of genes, and microRNAs collectively, may regulate more than half o...
AUG 22, 2013 | 12:00 PM
Howard J. Jacob, Ph.D., Founding Director of the Personalized Medicine Program and Human and Molecular Genetics Center and Professor in Physiology and Pediatrics at the Medical College of W...
AUG 22, 2013 | 12:00 PM
C.E. CREDITS
It is widely accepted that approximately 85% of known disease-causing DNA variants affect the exons and splice junctions, which is about 1% of the whole genome. As a result, Clinical Exome Se...
AUG 22, 2013 | 9:00 AM
C.E. CREDITS
There has been considerable debate in the scientific and clinical communities regarding the return of results from genome sequencing to physicians and patients. Questions surrounding which he...
AUG 22, 2013 | 9:00 AM
C.E. CREDITS
During IVF procedures pre-implantation genetic diagnosis (PGD) allows for genetic profiling of embryos prior to replacement. Most PGD procedures during IVF are performed to select chromosomal...
AUG 21, 2013 | 4:00 PM
C.E. CREDITS
High throughput transcriptomic analyses have shown that most of the human genome is dynamically transcribed to produce an extraordinary range of overlapping and interlacing intronic, intergen...