Computational and Quantitative Biology PhD

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    Giusy Della Gatta -Accelerating target identification and drug discovery through the power of high scale human genetics

    Seminars
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    19
    Date: Monday, 20th June 2022 15:00

    ABSTRACT

    Large-scale human exome sequencing can identify rare protein-coding variants with a large impact on complex traits such metabolic and cardiovascular disease and many other disorders. Along these lines, the Regeneron Genetics Center (RGC) developed an integrated research approach leveraging the power of genomics and electronic heath records to generate new therapeutic hypothesis, speed drug discovery and improve life of patients. In 2020 RGC reached the goal to sequence 1,000,000th exomes, which allowed the discovery of new breakthroughs in the search of protective genetics such as GPR75 and B4GALT1 gene mutations showing protection against development of obesity and cardiovascular disease, respectively.

    During my talk, I will first give an overview of RGC pipeline and collaboration network. I will then touch base upon the genetics and biology of B4GALT1 wild type and the Asn352Ser mutation, whose association with lower LDL, fibrinogen, and protection against development of cardiovascular disease was identified in a set of 6890 Old Order Amish (OOA) subjects and UKB (Montasser et al, Science 2021). I will finally discuss about one of ours discover biology projects encompassing metabolic and molecular studies performed in Marphanoid Progeroid Lipodystrophy, an ultra-rare genetic syndrome which exhibits clinical features of lipodystrophy through congenital lack of subcutaneous adipose tissue depots, but do not show signs of metabolic disturbances.

     

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    • Monday, 20th June 2022 15:00

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