Rare Diseases: A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. ... In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.
Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery. The Manton Center for Orphan Disease Research and...
DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
DATE: February 8, 2017TIME: 1:30pm PT, 4:30pm ETPerlara PBC, is a public benefit company committed to discovering small molecule therapeutics for rare genetic diseases. Our approach con...
DATE: December 14, 2016TIME: 9:00 AM PT, 12:00 PM ETMicroarrays and nucleotide sequencers have become commonplace tools in current research, yet until now, equivalent technologies for p...
DATE: November 30, 2016
TIME: 9:00 AM PT, 12:00PM ET
When using a flow cytometry core facility, researchers commonly evaluate how to process their cellular samples most efficiently, while...
The mission of the California Institute for Regenerative Medicine (CIRM) is to accelerate stem cell treatments to patients with unmet medical needs. With $3 billion in funding and 300 a...
Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
DATE: October 4, 2016
TIME: 8:00am PT, 11:00am ET
Extracting robust expression data from clinical samples represents a unique opportunity to find actionable biomarkers. But it...
DATE: June 23, 2016
TIME: 11:00am Pacific time, 2:00pm Eastern time
T cells as part of the adaptive immune system play a central role in cell-mediated immunity. Their link to ...
Emerging technologies facilitate basic science research, but their value in regulatory applications requires rigorous assessment and consensus within the research community. Next-generation s...
Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
Cervical cancer screening has been the 20th century poster child for preventative screening. This presentation is a gynecologist’s perspective on its continuing evolution –b...
Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
Family history can be viewed as the first stop in the assessment of genetic risks for any individual. For many genetic disorders there will be no obvious signs of symptoms until significant m...
One of the primary goals of precision medicine is the aggregation and interpretation of deep, longitudinal patient-specific data in the context of the digital universe of information, using a...
The process by which observations in the laboratory or the clinic are transformed into demonstrably useful interventions that tangibly improve human health is frequently termed "translation."...
As a computational scientist I have been fortunate to work with many collaborators to generate biological data to train and test my models. We are in a position with increasing amounts of dat...
Date: June 16, 2015Time: 8:00AM Pacific time, 11:00AM Eastern TimeGroup 2 innate lymphoid cells (ILC2s) are recently described innate immune cells that contribute to type 2 inflammation, tiss...
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
Advanced sequencing technologies have made population scale whole genome sequencing a possibility. However, current strategies for analysis of this data rely upon parallelization approaches t...
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...
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...
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...
Boston Children’s Hospital is developing the infrastructure needed for large-scale psychiatric research and treatment discovery. The Manton Center for Orphan Disease Research and...
DATE: May 9, 2017TIME: 8:00am PT, 11:00am ETHearing loss is the most common sensory defect in humans. It affects 360 million people worldwide and by 2020, that number is predi...
DATE: February 8, 2017TIME: 1:30pm PT, 4:30pm ETPerlara PBC, is a public benefit company committed to discovering small molecule therapeutics for rare genetic diseases. Our approach con...
DATE: December 14, 2016TIME: 9:00 AM PT, 12:00 PM ETMicroarrays and nucleotide sequencers have become commonplace tools in current research, yet until now, equivalent technologies for p...
DATE: November 30, 2016
TIME: 9:00 AM PT, 12:00PM ET
When using a flow cytometry core facility, researchers commonly evaluate how to process their cellular samples most efficiently, while...
The mission of the California Institute for Regenerative Medicine (CIRM) is to accelerate stem cell treatments to patients with unmet medical needs. With $3 billion in funding and 300 a...
Whole genome and exome sequencing is being widely used to identify disease-causing variants in patients with hereditary and rare diseases. Discovering the true disease-causing variants often...
DATE: October 4, 2016
TIME: 8:00am PT, 11:00am ET
Extracting robust expression data from clinical samples represents a unique opportunity to find actionable biomarkers. But it...
DATE: June 23, 2016
TIME: 11:00am Pacific time, 2:00pm Eastern time
T cells as part of the adaptive immune system play a central role in cell-mediated immunity. Their link to ...
Emerging technologies facilitate basic science research, but their value in regulatory applications requires rigorous assessment and consensus within the research community. Next-generation s...
Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
Cervical cancer screening has been the 20th century poster child for preventative screening. This presentation is a gynecologist’s perspective on its continuing evolution –b...
Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
Family history can be viewed as the first stop in the assessment of genetic risks for any individual. For many genetic disorders there will be no obvious signs of symptoms until significant m...
One of the primary goals of precision medicine is the aggregation and interpretation of deep, longitudinal patient-specific data in the context of the digital universe of information, using a...
The process by which observations in the laboratory or the clinic are transformed into demonstrably useful interventions that tangibly improve human health is frequently termed "translation."...
As a computational scientist I have been fortunate to work with many collaborators to generate biological data to train and test my models. We are in a position with increasing amounts of dat...
Date: June 16, 2015Time: 8:00AM Pacific time, 11:00AM Eastern TimeGroup 2 innate lymphoid cells (ILC2s) are recently described innate immune cells that contribute to type 2 inflammation, tiss...
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
Advanced sequencing technologies have made population scale whole genome sequencing a possibility. However, current strategies for analysis of this data rely upon parallelization approaches t...
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...
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...
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...
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