A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold.
DATE: September 19, 2017TIME: 10:30am PDT/ 1:30pm EDT/ 7:30pm CESTPart 1 – Cigall Kadoch, Ph.D. (30 min.)Exome- and genome-wide sequencing studies in human cancer have...
DATE: August 30, 2017TIME: 10:00am PT, 1:00pm ETRecent studies show that cancer cells can resist treatment by changing into a different cell type. Many treatments for specific cancers,...
Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
Open Targets is a public-private partnership made up of four global leading institutions in the fields of pharmaceuticals, bioinformatics and genomics, GSK, EMBL-EBI, the Wellcome Trust Sange...
I’ll talk about Strand NGS Server, our server-client NGS offering. Strand NGS server is geared towards small-to-medium scale clinical labs with high-volume sequencing throughputs and lo...
Much has been said about the promise of Next Generation Sequencing (NGS) to revolutionise diagnosis of rare diseases, and there are many examples of success in this arena. However, the majori...
Genetic disease is the leading cause of death for infants in the intensive care units. Traditional testing is too slow to provide physicians a timely diagnosis to help guide the management of...
Genetic testing currently plays a relatively niche role in healthcare, with testing typically limited to single genes and targeting a relatively narrow range of diseases, including paediatric...
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...
Studying the genetics of rare congenital disorders disrupting cognitive function has led to the identification of multiple disease genes that helped us better understand the mechanisms underl...
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...
The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
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 ...
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...
Emerging technologies facilitate basic science research, but their value in regulatory applications requires rigorous assessment and consensus within the research community. Next-generation s...
Advances in DNA sequencing technology are about to transform healthcare. Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
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...
DATE: September 19, 2017TIME: 10:30am PDT/ 1:30pm EDT/ 7:30pm CESTPart 1 – Cigall Kadoch, Ph.D. (30 min.)Exome- and genome-wide sequencing studies in human cancer have...
DATE: August 30, 2017TIME: 10:00am PT, 1:00pm ETRecent studies show that cancer cells can resist treatment by changing into a different cell type. Many treatments for specific cancers,...
Creating inducible Pluripotent Stem Cell (iPSC) collections of rare patients scattered world-wide can lower the barrier of biological discovery of rare disease, provide a platform for potenti...
Open Targets is a public-private partnership made up of four global leading institutions in the fields of pharmaceuticals, bioinformatics and genomics, GSK, EMBL-EBI, the Wellcome Trust Sange...
I’ll talk about Strand NGS Server, our server-client NGS offering. Strand NGS server is geared towards small-to-medium scale clinical labs with high-volume sequencing throughputs and lo...
Much has been said about the promise of Next Generation Sequencing (NGS) to revolutionise diagnosis of rare diseases, and there are many examples of success in this arena. However, the majori...
Genetic disease is the leading cause of death for infants in the intensive care units. Traditional testing is too slow to provide physicians a timely diagnosis to help guide the management of...
Genetic testing currently plays a relatively niche role in healthcare, with testing typically limited to single genes and targeting a relatively narrow range of diseases, including paediatric...
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...
Studying the genetics of rare congenital disorders disrupting cognitive function has led to the identification of multiple disease genes that helped us better understand the mechanisms underl...
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...
The study of human genetic neurodevelopmental disorders (NDDs) is complicated by the inaccessibility of the relevant tissue for study: it is extremely rare to obtain post-surgical brain sampl...
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 ...
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...
Emerging technologies facilitate basic science research, but their value in regulatory applications requires rigorous assessment and consensus within the research community. Next-generation s...
Advances in DNA sequencing technology are about to transform healthcare. Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
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...