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.
DATE: February 26, 2019TIME: 11:00am PST, 2:00pm EST Osteosarcoma is the most common type of primary bone cancer affecting adolescents and children attributed to...
Date: February 7, 2019Time: 8:00am PST, 11:00am EST Modern microscopes are becoming increasingly complex instruments enabling registration of image sets far beyon...
Prodrugs are harmless in their native state, as they are not targeted by human enzymes. But they can be converted into highly toxic compounds (the “drug”) by viral or bacterial en...
DATE: December 13 15,2018TIME: 09:00am PST, 12:00pm EST Breast cancers are classified into three main subtypes according to their receptor status: estrogen receptor-positive...
Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Using human genetics approaches, we recently identified bi-allelic truncatin...
DATE: October 25, 2018TIME: 08:00am PDT, 11:00am EDT While the significance of the microbiome is unprecedented, a thorough study to dissect the role of individual popul...
In the past two decades a small number of infrequently dividing cells have been proposed as the source of multi-drug resistance during cancer treatment. These cells identified by their expres...
Crohn’s disease and ulcerative colitis also known as inflammatory bowel diseases or IBD, are characterized by chronic, recurrent inflammation of the gastrointestinal tract, which result...
Rare disease affects 30 million people in the United States, with nearly 50% of cases affecting children. Because nearly 80% of rare diseases are genetic, advancements in genomic testing are...
As the costs of genomic analysis decline it becomes possible to offer widescale population genomic analysis to screen for genetic disorders. The Alabama Genomic Health Initiative was es...
Genomic information has the potential to improve management or potentially prevent or enable early intervention of virtually every disease. However, despite massive technological leaps and ex...
Although more than half of U.S. states have legalized the use of medical marijuana, the U.S. Food and Drug Administration (FDA) has not yet recognized or approved the cannabis plant for thera...
The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward prog...
DATE: January 25, 2018TIME: 10:00am PST, 1:00pm EST, 6:00pm GMTOncolytic virotherapy, the use of viral vectors to treat cancer, holds huge promise. Viruses are natural DNA delivery vehi...
DATE: October 25, 2017TIME: 08:00am PDT, 11:00am EDTAs we learn more about the implications of genetic variation in 21st century medicine, the utilization of genotyping as a molecular t...
Acral lentiginous melanoma (ALM) is a rare sun-shielded melanoma subtype associated with worse survival than cutaneous melanoma (CM), a more common form of skin cancer linked to exposure to u...
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 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...
DATE: February 26, 2019TIME: 11:00am PST, 2:00pm EST Osteosarcoma is the most common type of primary bone cancer affecting adolescents and children attributed to...
Date: February 7, 2019Time: 8:00am PST, 11:00am EST Modern microscopes are becoming increasingly complex instruments enabling registration of image sets far beyon...
Prodrugs are harmless in their native state, as they are not targeted by human enzymes. But they can be converted into highly toxic compounds (the “drug”) by viral or bacterial en...
DATE: December 13 15,2018TIME: 09:00am PST, 12:00pm EST Breast cancers are classified into three main subtypes according to their receptor status: estrogen receptor-positive...
Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Using human genetics approaches, we recently identified bi-allelic truncatin...
DATE: October 25, 2018TIME: 08:00am PDT, 11:00am EDT While the significance of the microbiome is unprecedented, a thorough study to dissect the role of individual popul...
In the past two decades a small number of infrequently dividing cells have been proposed as the source of multi-drug resistance during cancer treatment. These cells identified by their expres...
Crohn’s disease and ulcerative colitis also known as inflammatory bowel diseases or IBD, are characterized by chronic, recurrent inflammation of the gastrointestinal tract, which result...
Rare disease affects 30 million people in the United States, with nearly 50% of cases affecting children. Because nearly 80% of rare diseases are genetic, advancements in genomic testing are...
As the costs of genomic analysis decline it becomes possible to offer widescale population genomic analysis to screen for genetic disorders. The Alabama Genomic Health Initiative was es...
Genomic information has the potential to improve management or potentially prevent or enable early intervention of virtually every disease. However, despite massive technological leaps and ex...
Although more than half of U.S. states have legalized the use of medical marijuana, the U.S. Food and Drug Administration (FDA) has not yet recognized or approved the cannabis plant for thera...
The study of rare, neurological disorder and the development of effect treatments can pose many unique challenges. A paucity of scientists working on these disorders often limits forward prog...
DATE: January 25, 2018TIME: 10:00am PST, 1:00pm EST, 6:00pm GMTOncolytic virotherapy, the use of viral vectors to treat cancer, holds huge promise. Viruses are natural DNA delivery vehi...
DATE: October 25, 2017TIME: 08:00am PDT, 11:00am EDTAs we learn more about the implications of genetic variation in 21st century medicine, the utilization of genotyping as a molecular t...
Acral lentiginous melanoma (ALM) is a rare sun-shielded melanoma subtype associated with worse survival than cutaneous melanoma (CM), a more common form of skin cancer linked to exposure to u...
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 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...
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