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.
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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 | 3:00 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...
AUG 21, 2013 | 2:00 PM
C.E. CREDITS
Aging is the major risk for diseases such as cancer, AD, type 2 Diabetes mellitus and cardiovascular disease. We hypothesize that a progress in preventing these diseases will occur only if we...
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 | 12:00 PM
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Susceptibility to coronary artery disease (CAD) is claimed to be 40% to 60% inherited, but until recently genetic risk factors predisposing to CAD have been elusive. Comprehensive prevention...
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
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...
Personalized medicine is expected to benefit from the combination of genomic information with the global monitoring of molecular components and physiological states. To ascertain whether this...
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
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...
Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi-...
Genetic testing is becoming a widespread practice and with human genome fully sequenced we want to develop best methods to do it. Single gene or single mutation screening is pretty much becom...
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, as...
Measurement of renin and its activity is increasingly used in the evaluation of circulatory function. This is primarily driven by a higher than previously realized prevalence of primary hype...