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Innovative breakthrough promises to diagnose DNA rearrangement mutations

Innovative breakthrough promises to diagnose DNA rearrangement mutations Doctors are increasingly using genetic signatures to diagnose diseases and determine the best course of care, but using DNA sequencing and other techniques to detect genomic rearrangements remains costly or limited in capabilities. However, an innovative breakthrough developed by researchers at Virginia Commonwealth University Massey Cancer Center and the VCU Department of Physics promises to diagnose DNA rearrangement mutations at a fraction of the cost with improved accuracy. Led by VCU physicist Jason Reed, Ph.D., the team developed a technique that combines a process called digital polymerase chain reaction (dPCR) with high-speed atomic force microscopy (HSAFM) to create an image with such nanoscale resolution that users can measure differences in the lengths of genes in a DNA sequence. These variations in gene length, known as polymorphisms, can be key to accurately diagnosing many forms of cancer and ne

Global Blood Therapeutics, Inc : European Medicines Agency Accepts GBT s Marketing Authorization Application (MAA) for Oxbryta (voxelotor) for the Treatment of Hemolytic Anemia in Sickle Cell Disease

Global Blood Therapeutics, Inc.: European Medicines Agency Accepts GBT s Marketing Authorization Application (MAA) for Oxbryta (voxelotor) for the Treatment of Hemolytic Anemia in Sickle Cell Disease (voxelotor) Tablets Oxbryta (voxelotor) is an oral, once-daily therapy for patients with sickle cell disease (SCD). Oxbryta works by increasing hemoglobin s affinity for oxygen. Since oxygenated sickle hemoglobin does not polymerize, GBT believes Oxbryta blocks polymerization and the resultant sickling and destruction of red blood cells, which are primary pathologies faced by every single person living with SCD. Through addressing hemolytic anemia and improving oxygen delivery throughout the body, GBT believes that Oxbryta has the potential to modify the course of SCD. On Nov. 25, 2019, Oxbryta received U.S. Food and Drug Administration (FDA) accelerated approval for the treatment of SCD in adults and children 12 years of age and older.

European Medicines Agency Accepts GBT s Marketing Authorization Application (MAA) for Oxbryta® (voxelotor) for the Treatment of Hemolytic Anemia in Sickle Cell Disease

Published: Jan 27, 2021 SOUTH SAN FRANCISCO, Calif., Jan. 27, 2021 (GLOBE NEWSWIRE) Global Blood Therapeutics , Inc. (GBT) (NASDAQ: GBT) today announced that the European Medicines Agency (EMA) has completed the validation of GBT’s Marketing Authorization Application (MAA) for Oxbryta ® (voxelotor) tablets and started its standard review process. GBT is seeking full marketing approval from the EMA for Oxbryta to treat hemolytic anemia in patients with sickle cell disease (SCD) who are 12 years of age and older. A first-in-class oral, once-daily therapy, Oxbryta directly inhibits hemoglobin polymerization, the root cause of the sickling and destruction of red blood cells in SCD. The sickling process causes hemolytic anemia (low hemoglobin due to red blood cell destruction) and blockages in capillaries and small blood vessels, which impede the flow of blood and oxygen throughout the body. The diminished oxygen delivery to tissues and organs can lead to life-threatening com

VCU technology could upend DNA sequencing for diagnosing certain DNA mutations

 E-Mail IMAGE: From left, postdoctoral scholar Andrey Mikheykin, Ph.D., Jason Reed, Ph.D., and postdoctoral fellow Sean Koebley, Ph.D., worked together on the study. view more  Credit: John Wallace, VCU Massey Cancer Center Doctors are increasingly using genetic signatures to diagnose diseases and determine the best course of care, but using DNA sequencing and other techniques to detect genomic rearrangements remains costly or limited in capabilities. However, an innovative breakthrough developed by researchers at Virginia Commonwealth University Massey Cancer Center and the VCU Department of Physics promises to diagnose DNA rearrangement mutations at a fraction of the cost with improved accuracy.

VCU technology can turn DNA sequencing on its head for diagnosing certain DNA mutations

VCU technology can turn DNA sequencing on its head for diagnosing certain DNA mutations News Highlights: VCU technology can turn DNA sequencing on its head for diagnosing certain DNA mutations PICTURE: From left to right, postdoctoral researcher Andrey Mikheykin, Ph.D., Jason Reed, Ph.D., and postdoctoral fellow Sean Koebley, Ph.D., collaborated on the study. view more Credit: John Wallace, VCU Massey Cancer Center Physicians are increasingly using genetic signatures to diagnose diseases and determine the best care, but the use of DNA sequencing and other techniques to detect genomic rearrangements remains expensive or limited in scope. However, an innovative breakthrough developed by researchers at Virginia Commonwealth University Massey Cancer Center and the VCU Department of Physics promises to diagnose DNA rearrangement mutations at a fraction of the cost with improved accuracy.

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