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Genetic disease News

New open software allows diagnosis of genetic diseases

Genetic diseases are difficult to diagnose and the accuracy (or otherwise) of the diagnosis impact upon patient health. To help with this a new open-source software tool called Mendel, MD has been launched.

Breakthrough in personalized medicine research

Researchers have made an advancement with personalized medicines (or ‘precision medicines’) against a number of diseases currently classed as incurable. These are all genetic diseases.

Developing gene therapy to lower cancer risks

Gene therapy is the primary method for treating rare, genetic diseases. However, many treatments carry the risk of cancer. A new study has attempted to lower this risk.

Call for submissions to Huntington's Disease documentary was founded in 2011 to create awareness of Huntington's Disease, a hereditary, degenerative, and terminal brain disease caused by a genetic defect on chromosome 4.

Review: Trials and Triumphs of Huntington Disease Special

Toronto - Meghan Andrews has linked together two of her interests: photography and raising awareness about Huntington disease in a new photo book that captures the journeys of Canadian families affected by Huntington disease.

Gene treatment for rare blood disorder

The blood disorder β-thalassemia is caused by a mutation in the HBB gene, which results in a severe hemoglobin deficiency. Researchers have successfully corrected the mutation in human induced stem cells.

Researchers Prevent Deadly Genetic Disease In Zebrafish

By injecting a customized "genetic patch" into early stage fish embryos, researchers at Washington University School of Medicine in St. Louis were able to correct a genetic mutation so the embryos developed normally.

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