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  • Genetic analysis has potential to transform diagnosis and treatment of adults with liver disease of unknown cause

    Adults suffering from liver disease of unknown cause represent an understudied and underserved patient population. A new study supports the incorporation of whole-exome sequencing (WES) in the diagnosis and management of adults suffering from unexplained liver disease and underscores its value in developing an understanding of which liver phenotypes of unknown cause in adults are genetic.

    Source: Science Daily
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  • November 15, 2018 Medical Grand Rounds Recap

    Pramod Mistry, MBBS, PhD, FRCP, professor of medicine (digestive diseases) and pediatrics; professor of cellular & molecular physiology, presented statistics, research, and patient examples in the November 15 Department of Internal Medicine’s Medical Grand Rounds: “Gaucher Disease: The Story of How a Rare Inborn Error of Metabolism Transforms our Understanding of Two Common Diseases.”

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  • A life saved by genetic sequencing

    For years, physicians and specialists puzzled over Amanda Gonzalez-Bunster's unusual -- and seemingly unrelated -- symptoms, until a Yale doctor suggested genetic sequencing.

    Source: Yale Medicine
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  • Winners of the 2012 Gaucher Generation Programme Awards Announced

    The winners of the 2012 Gaucher Generation Programme Awards are Elena Pavlova, MD, PhD, of Addenbrooke’s Hospital, University of Cambridge, Cambridge, UK (New Investigator Award), Gustavo Tiscornia, University of Algarve, Faro, Portugal, (New Investigator Award), and Pramod K Mistry, Yale University School of Medicine, New Haven, USA (Established Investigator Award).

    Source: Gaucher Life.co.uk
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  • A whole-body perspective on Gaucher disease

    Dr. Pramod K. Mistry, professor of pediatrics and internal medicine, explains that Gaucher disease does not only affect macrophage cell types. Related diseases such as cancer, Parkinson, and osteoporosis occur as a direct interaction with cells across the entire body. Currently approved options are successful at controlling Gaucher disease but do not focus on the entire body, he says, adding that the next step is to have an agent that can actively regulate lipid metabolism in all cells.

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  • Breakthrough could improve treatment for Type 1 Gaucher

    In an important breakthrough, researchers at Yale School of Medicine have found that new disease pathways involving more than one cell type leads to Type 1 Gaucher disease, a rare genetic disorder resulting in liver/spleen enlargement, low blood counts, osteoporosis, bone pain, and increased risk of cancer and Parkinson's disease.

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  • Cheaper, More Effective Treatment of Type 1 Gaucher Disease Possible

    Researchers at Yale School of Medicine have found that new disease pathways involving more than one cell type leads to Type 1 Gaucher disease, a rare genetic disorder in which fatty substances called glycosphingolipids accumulate in cells, resulting in liver/spleen enlargement, osteoporosis, bone pain, and increased risk of cancer and Parkinson's disease.

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