Human health and disease refers to understanding what contributes to human health (the staste of mental, social, and physical being) and what factors may deter health (such as disease, infection, etc.)
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Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to g...
Direct-to-consumer (DTC) genetic testing can be understood as including two related aspects: first, the advertising of genetic tests directly to consumers; and second, the direct access or or...
The Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative is part of a new Presidential focus aimed at revolutionizing our understanding of the human brain. By acce...
ATP-binding cassette transporter A1 (ABCA1) mediates cholesterol efflux to lipid-free apolipoproteins such as apolipoprotein A-I (apoA-I) and apolipoprotein E (apoE). ABCA1 is essential regul...
The Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative is part of a new Presidential focus aimed at revolutionizing our understanding of the human brain. By...
Down syndrome (DS) is a complex multi-system disorder affecting more than 5.8 million individuals around the world and it causes significant physical, psychological, and cognitive abnormaliti...
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...
Nonhuman primates are commonly used in biomedical research due to its anatomical, behavioral, and genetic similarities with humans. Macaques, especially the Rhesus macaque (Macaca mulatta) ar...
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 | 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 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...
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...
Personalized medicine is transforming biomedical research and healthcare service delivery. Disease definition, diagnosis, treatment, and prevention are being fundamentally altered by the capa...
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 | 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 | 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 | 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...
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...