Medical Genetics: involves the application of genetics to medical care, including research on the causes and inheritance of genetic disorders, and their diagnosis and management.
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
The use of ultrahigh throughput diagnostic tests that determine genetic sequence variation to guide patient care is rapidly expanding, fueled by the enormous growth in sequencing platform dev...
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...
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...
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...
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...
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...
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...
Anticoagulation therapy is frequently employed to prevent stroke in patients with atrial fibrillation, prophylaxis of venous thromboembolism and pulmonary embolism in patients with prosthetic...
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...
The human species is particularly prone to chromosome segregation errors during maternal meiosis in the egg and during post zygotic mitosis in the preimplantation embryo. In fact, aneuploidy...
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...
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...
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...
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...
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...
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...
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...
As a component of individualized medicine, pharmacogenetics (PGx) focuses on how genetic factors influence individual responses to specific medications. The clinical goals of pharmacogenetics...
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-...
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...
Development of a companion diagnostic can be critical to the success of a drug. Pharmaceutical companies are committing more and more of their efforts to discover and deliver targeted therapi...
Developments in DNA sequencing technology have provided a unique opportunity for diagnosis and discovery of genetic alterations for rare diseases. Partnering with 20 academic centers in the U...
The use of ultrahigh throughput diagnostic tests that determine genetic sequence variation to guide patient care is rapidly expanding, fueled by the enormous growth in sequencing platform dev...
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...
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...
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...
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...
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...
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...
Anticoagulation therapy is frequently employed to prevent stroke in patients with atrial fibrillation, prophylaxis of venous thromboembolism and pulmonary embolism in patients with prosthetic...
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...
The human species is particularly prone to chromosome segregation errors during maternal meiosis in the egg and during post zygotic mitosis in the preimplantation embryo. In fact, aneuploidy...
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...
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...
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...
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...
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...
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...
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...
As a component of individualized medicine, pharmacogenetics (PGx) focuses on how genetic factors influence individual responses to specific medications. The clinical goals of pharmacogenetics...
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-...
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...
Development of a companion diagnostic can be critical to the success of a drug. Pharmaceutical companies are committing more and more of their efforts to discover and deliver targeted therapi...