Apr 29, 2020
Professor Sarah Ennis has been
in the field of genetic epidemiology for over 20 years.
In this conversation, she explains
- What a dry lab does specifically in terms of understanding disease through data analysis,
- The types of information they can pass on to clinicians to help them treat patients, and
- What the future holds as far as the ability to offer molecular diagnoses.
Sarah Ennis runs the
Genomic Informatics
group at the University of South
Hampton, which is a dry lab specializing in next generation
sequencing (NGS) data and clinical cohorts. She explains that
genetics epidemiology in a dry lab setting means she and her
colleagues use data analysis to offer information on disease.
Specifically, they look at the
genome data of patients to understand how and why the DNA
mutates and changes and how and why those changes cause sickness in
some cases and none in other cases.
She offers listeners more detail
about the factors they analyze as they untangle what changes are
important and how and why. Along the way she is able to explain the
logistics of what scientists really mean whey they say they've
sequenced a
genome, including the focus on the positive strand of the 5 and
3 prime, and how recessive and dominant disease genes are
understood in this context.
She then ties this information to next generation sequencing, how
it offers a less expensive and more sweeping technique to produce
the data.
Finally, she discusses her
present work on analyzing data on inflammatory bowel disease for
children and adults. Inflammatory bowel disease is very hard on
children who depend on nutrition for growth.
Their analysis allows them to tell clinicians if it's caused by one
gene in one patient and another gene in a second patient;
therefore, the clinician can specialize the medicines
accordingly.
For more, see the Genomic Informatics group page at the University of South Hampton: https://www.southampton.ac.uk/medicine/academic_units/academic_units/gegi.page