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Women's and Children's Health Research Seminar

The Genetics of Digestive Function – Does a Common Pancreatic Gene Deletion Cause a Monoenzymatic Form of Exocrine Pancreatic Insufficiency?

Join us on 1 July for a research seminar presented by Dr Annika Sjoeholm.

Classically, geneticists assess the signs and symptoms (i.e. the phenotype) of a patient, and then seek to understand the underlying causative genetic changes – this is called “forward genetics.” The advent of large genetic biorepositories, in which there is linked genotypic data and deeply curated phenotyping of patients (such as hospital admission records and medication history), now allows us to assess genotype-phenotype associations in both directions.

Utilising “reverse genetic” techniques, we can assess the phenotype associated with a known genotype of interest. Work from my PhD explores the phenotypic features associated with a common pancreatic gene change originally identified in a local NZ European and Māori family. In combination with a genetically engineered mouse model and in vitro laboratory studies, we aim to ascribe pathogenicity to a common pancreatic gene deletion and hypothesise that it may cause a currently unrecognised, monoenzymatic form of exocrine pancreatic insufficiency. In this seminar overall results from the UK Biobank will be presented, along with preliminary data from the mouse model.


This seminar will be available to view on Zoom at the link below:

Women's and Children's Health seminar on Zoom

Password: 467877

Note that the seminar will be available to watch live only (no recording).

Date Thursday, 1 July 2021
Time 1:00pm - 2:00pm
Audience Postgraduate students,Staff
Event Category Health Sciences
Event Type Seminar
Online and in-person
DepartmentWomen's and Children's Health (Dunedin)
LocationSeminar Room 2, 3rd Floor Children’s Pavilion, Dunedin Hospital.
Contact NameElla Williams

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