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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.
SEP 24, 2014 | 2:00 PM
The RNA-guided nuclease Cas9 from the microbial CRISPR adaptive immune system has emerged as an exciting tool for precise genome editing in eukaryotic cells. This presentation will discuss th...
SEP 24, 2014 | 8:00 AM
Antibiotics are among the most important advances in the history of modern medicine. They turned often acutely fatal infections into treatable indications with radical cures. Antibiotics co...
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 | 10:00 AM
Patients with chromosomal rearrangements resulting in fusion proteins are among the most responsive to published targeted therapy. For example, targeting of the EML4-ALK fusion in non-small c...
AUG 21, 2014 | 2:30 PM
Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the ne...
AUG 21, 2014 | 12:45 PM
When whole genome and whole exome sequencing are introduced into health care, and offered directly to consumers in commercial settings, the landscape of genetic testing will drastically chang...
AUG 21, 2014 | 11:30 AM
The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
AUG 21, 2014 | 11:15 AM
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, 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 21, 2014 | 8:45 AM
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...
AUG 21, 2014 | 8:45 AM
Gene therapy for two forms of inherited retinal degeneration have met promising safety and efficacy endpoints in early stage clinical trials. These approaches made use of a replication defect...
AUG 21, 2014 | 8:45 AM
With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very val...
