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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.
OCT 29, 2014 | 3:00 PM
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...
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 | 8:00 AM
Target selection is arguably the most important decision in all drug discovery and development activities. No amount of great science can overcome the selection of the wrong target. The rapid...
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 | 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 | 11:15 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 | 10:45 AM
For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and 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
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...
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 | 6:45 AM
The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
AUG 20, 2014 | 11:45 AM
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...
AUG 20, 2014 | 11:45 AM
The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more compre...
AUG 20, 2014 | 10:45 AM
A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
AUG 20, 2014 | 10:30 AM
Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...
AUG 20, 2014 | 8:45 AM
The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chi...
AUG 20, 2014 | 8:00 AM
One of the hallmarks of human cancers is genetic instability. My colleagues and I recently identified a remarkable association between human papillomavirus (HPV) and genomic structural variat...
MAY 30, 2014 | 7:30 AM
As next-generation sequencing (NGS) platforms advance in their speed, ease-of-use, and cost-effectiveness, many translational researchers are transitioning from microarrays to RNA sequencing...
MAY 28, 2014 | 1:30 PM
The regulation of molecular testing continues to grow in complexity, in terms of the oversight by FDA, coverage determinations by Medicare contractors, and the payment amounts established by...
MAY 28, 2014 | 10:30 AM
Early infantile rickets is the least appreciated form of this ancient disease of children. Although it is usually subclinical, the high prevalence recently reported at autopsy (87% < 1 yea...
MAY 28, 2014 | 10:30 AM
Traditional testing methods for monoclonal protein in Plasma Cell Dyscrasias correctly identify a majority of patients. However, limitations in these methods can cause patients to be missed...