Profile

Photo:

Eugene Gardner

My CV

  • Education:

    University of Maryland Baltimore, Baltimore, MD 21201 (2012-2017)
    Doctor of Philosophy (Ph.D.) in Molecular Medicine, emphasis in Genome Biology
    ———
    Ohio University, Athens, OH 45701 (2006-2010)
    Bachelors of Science (B.S.) in Microbiology, History Minor
    ———–
    Atholton High School, Columbia MD 20144 (2002-2006)
    General High School Education

  • Qualifications:

    I’m American. We don’t do GCSEs! We only have our grades from each of our courses and a single test called the SAT to get into Uni.

  • Work History:

    Pre-Doctoral Research Associate [Technician] (2010-2012)
    Carnegie Institution for Science, Department of Embryology, Lab of Dr. Joseph G. Gall
    Characterization of small non-coding RNAs in the Xenopus oocyte nucleus; Bioinformatic analysis of RNA sequencing data; Laboratory management.
    ———
    Manager (2005-2008)
    Ledo Pizza Clarksville
    Managed a local pizza shop while undergoing high school and university education

  • Current Job:

    Postdoctoral Fellow (2017-Present)
    Wellcome Trust Sanger Institute, Lab of Dr. Matthew E. Hurles, FMedSci
    Study of structural variation in developmental disorders and human populations using whole genome, whole exome, and microarray sequencing approaches.

    • About Me:

      I am an American postdoctoral fellow at the Wellcome Sanger Institute working on rare developmental disorders in children. I was born and raised in the state of Maryland, USA just outside of Washington D.C.

    • Read more

      I live outside Cambridge with my wife and dog Chicago and have been learning how to be British for the last two and a half years. We enjoy hiking the lovely English countryside and exploring the rest of Europe. This past summer we flew around the world! 

    • Read more

      I completed my PhD at the University of Maryland, Baltimore School of Medicine in the laboratory of Dr. Scott Devine. My work involved the design of computational tools to mine next generation sequencing data for transposons, a piece of DNA that can copy itself to new places in the genome. Through this process, transposons can sometimes “jump” into the coding sequence of genes and disrupt their normal function. During my PhD we documented such a case where a transposon jumped into the coding sequence of the known cancer tumour suppressor gene APC and led to a case of colorectal cancer in a single patient. I also documented the genomic landscape of polymorphic transposon insertions in human populations as part of the 1000 Genomes Project.

      I focus on the diagnosis of children with rare developmental disorders (DD) as part of the Deciphering Developmental Disorders (DDD) study. Approximately 45% of patients in DDD have a single base change compared to their parents that explains their condition. My work involves trying to find diagnoses for the remaining 55% in two different ways. The first is the identification of genetic variants that, instead of single base change, are caused by large (i.e. >50bp) rearrangements of the human genome known as Structural Variation (SV). The second is by trying to understand how both common and rare variants interact to cause DD. Interestingly, healthy individuals also carry genetic changes that, if observed in our DD patients, would be considered likely causative. I am currently working to understand how are these healthy individuals are “protected” from showing the same symptoms as our recruited patients and if they can help us to understand the genetics of our remaining DD patients.

      I’ve also included a picture of me when I (and everybody else!) first started doing genome sequencing…

    • My Typical Day:

      I get up around 7AM each day, take my dog for a nice long walk, and head to my office. I then spend the rest of my day writing computer code to try and help sick children.

    • Read more

      I get up around 7AM, get my first (of many) cups of coffee and eat my breakfast. I then take my dog for a nice long walk each morning and head to

    • What I'd do with the prize money:

      Use it as travel funds to head to schools and talk to teachers and students about how genetics plays a (partial) role in who they are.

    • The most exciting thing that's happened this year in my research area:

      The ongoing use of polygenic scores to determine how your genes play a role in many different complex traits like height, educational attainment, and risk of cancer. And then the study that talked about selecting these traits from embryos showing that it won’t do much!

    • My latest work:

      I focus on the diagnosis of children with rare developmental disorders (DD) as part of the Deciphering Developmental Disorders (DDD) study. Approximately 45% of patients in DDD have a single base change compared to their parents that explains their condition. My work involves trying to find diagnoses for the remaining 55% in two different ways. The first involves identifying changes in DNA that are different compared to their parents, but in my case, I look for very large parts of the human genome that are completely gone. The second is by trying to understand how changes children inherit from their parents could cause their disorder. Interestingly, some individuals also carry changes that, if observed in our patients, would be considered likely causative. I am currently working to understand how are these healthy individuals are “protected” from showing the same symptoms as our recruited patients and if they can help us to understand the genetics of our remaining DD patients.

    • My favourite misconception about my area of science:

      That traits are 100% genetics or 100% environment. Everything about us is a mix of genetics and our individual circumstances. From how tall you grow to your risk of certain diseases, there is a complex mix of your genes and how you live your life merging to determine who you are.