Nicola Y Roberts

HCPC Registered Clinical Scientist (Genomics) at Manchester University NHS Foundation Trust
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Contact Information
us****@****om
(386) 825-5501
Location
Manchester, England, United Kingdom, UK

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Experience

    • United Kingdom
    • Hospitals and Health Care
    • 700 & Above Employee
    • HCPC Registered Clinical Scientist (Genomics)
      • Oct 2017 - Present

    • United Kingdom
    • Hospitals and Health Care
    • 400 - 500 Employee
    • Trainee Clinical Scientist (Genetics)
      • Sep 2014 - Sep 2017

    • United Kingdom
    • Higher Education
    • 700 & Above Employee
    • Postdoctoral Research Fellow
      • Mar 2012 - Aug 2014

      I lead a project to identify novel autosomal recessive disease genes in families with neurological disorders. This included use of autozygosity mapping, and exome sequencing. My research involved exome data analysis using a UNIX pipeline and perl and java scripts to identify candidate variants. I designed functional assays to investigate candidate variants and establish pathogenicity. I lead a project to identify novel autosomal recessive disease genes in families with neurological disorders. This included use of autozygosity mapping, and exome sequencing. My research involved exome data analysis using a UNIX pipeline and perl and java scripts to identify candidate variants. I designed functional assays to investigate candidate variants and establish pathogenicity.

    • United Kingdom
    • Research Services
    • 700 & Above Employee
    • Postdoctoral Research Associate
      • Oct 2010 - Oct 2011

      A 12 month position to research and develop a non-invasive prenatal diagnostic test for Tuberous Sclerosis, by analysis of circulating cell free-fetal DNA. I also analysed next generation sequencing data with collaborators (Sanger institute, UK10K), to identify novel genetic causes of disease in patient samples, as part of the Genetics of Learning Disability study (GOLD). A 12 month position to research and develop a non-invasive prenatal diagnostic test for Tuberous Sclerosis, by analysis of circulating cell free-fetal DNA. I also analysed next generation sequencing data with collaborators (Sanger institute, UK10K), to identify novel genetic causes of disease in patient samples, as part of the Genetics of Learning Disability study (GOLD).

    • United States
    • Biotechnology Research
    • 300 - 400 Employee
    • Development Scientist
      • Jan 2010 - Oct 2010

      My role included the design, development, and validatation of multiplex PCR in vitro diagnostic kits for the detection of aneuploidy in prenatal and pregnancy loss samples. I used quantitative fluorescence PCR of short tandem repeat markers to amplify samples, and analysed the PCR products by capillary electrophoresis. I gained experience in human genetic testing and with ISO quality management systems. Company now known as Elucigene Diagnostics. My role included the design, development, and validatation of multiplex PCR in vitro diagnostic kits for the detection of aneuploidy in prenatal and pregnancy loss samples. I used quantitative fluorescence PCR of short tandem repeat markers to amplify samples, and analysed the PCR products by capillary electrophoresis. I gained experience in human genetic testing and with ISO quality management systems. Company now known as Elucigene Diagnostics.

Education

  • University of Birmingham
    Doctor of Philosophy (Ph.D.), Plant Genetics
    2005 - 2010
  • University of Birmingham
    Bachelor’s Degree, Biological Sciences (Animal Biology)
    2002 - 2005

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