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Clinical Genetics
Clinical Genetics is a diagnostic service and "genetic counseling" for individuals or families with conditions which may have a genetic basis.
AUG 22, 2013 | 2:00 PM
The role of the human genome in normal and patho-biology is crucial. Applied in cancer care and in a variety of unknown disorder settings, it can provide key insights and crucial diagnostic/p...
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 | 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 | 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 | 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 | 10:00 AM
C.E. CREDITS
The advent of massively parallel sequencing by next generation sequencing platforms now allow genomic approaches for individualizing healthcare. Genomic sequencing data reveals variants in ge...
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 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 | 7:00 AM
C.E. CREDITS
Anticoagulation therapy is frequently employed to prevent stroke in patients with atrial fibrillation, prophylaxis of venous thromboembolism and pulmonary embolism in patients with prosthetic...
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 21, 2013 | 4:00 PM
C.E. CREDITS
The goal of personalized medicine is to customize healthcare to the individual patient. Pharmacogenomics, the analysis of how a patient's genetic makeup affects the individual's response to c...
AUG 21, 2013 | 3:00 PM
Introduction Although the focus of the genomics community has largely been on DNA polymorphisms which affect disease risk, gene expression, especially of blood cells, has the potential to ref...
AUG 21, 2013 | 2:00 PM
Increasingly genome sequence knowledge is unraveling the complexity of rare Mendelian disorders offering hope for our children's medical care through better disease diagnosis and ultimately p...
AUG 21, 2013 | 1:00 PM
C.E. CREDITS
In addition to the exciting promise that genome sequencing holds, concerns are also often described. These concerns relate to: privacy/confidentiality of findings; impact of findings on insur...
AUG 21, 2013 | 12:00 PM
Whenever there is cell death, apoptotic cell free DNA fragments appear in the circulation of the host. These fragments, typically 145-160 base pairs in size, represent a minute fraction of to...
AUG 21, 2013 | 10:00 AM
C.E. CREDITS
In the United States, invasive aspergillosis (IA), an invasive fungal infection of the upper respiratory tract of immune compromised patients, is usually caused by Aspergilus fumigatus, while...
AUG 21, 2013 | 10:00 AM
C.E. CREDITS
Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
AUG 21, 2013 | 10:00 AM
C.E. CREDITS
Massively parallel sequencing technology has proven to enable the identification of driver genetic alterations in patients' tumors that may be suppressed by targeted therapies. Through retros...
AUG 21, 2013 | 8:00 AM
In this presentation I describe some of the approaches we are taking to identify the genetic architecture of common complex cancers with a particular focus on the etiology of lung cancer. Can...
AUG 21, 2013 | 8:00 AM
C.E. CREDITS
As a component of individualized medicine, pharmacogenetics (PGx) focuses on how genetic factors influence individual responses to specific medications. The clinical goals of pharmacogenetics...
AUG 21, 2013 | 8:00 AM
C.E. CREDITS
With the technical costs of genome sequencing continuously dropping, it is now feasible to offer this assay in a clinical context. Empirical evidence suggests that genome and exome sequencing...
AUG 21, 2013 | 6:00 AM
C.E. CREDITS
This presentation focuses on contemporary methods for detection of monoclonal proteins (M-protiens) that are associated with multiple myeloma and other plasma cell dyscrasias. The basic princ...