A whole-genomic outlook on periventricular nodular heterotropia—A neurological disorder
presented by Ben Halliday
Neurogenesis is a complex process involving the birth and migration of neurons to the correct regions of the developing brain. Disruption of this process can lead to cortical malformations, such as periventricular nodular heterotropia (PVNH). Identifying causal genetic variation in PVNH patients will help us understand the role that involved genetic pathways play in normal and abnormal neurogenesis.
A lesser-known sister—Filamin B
presented by Dagmara Kociszewska
Mutations occurring in genes that encode cytoskeletal proteins called filamins lead to a broad spectrum of developmental anomalies. These abnormalities reflect a central role for filamins in human development, particularly the skeleton. It is enigmatic how the functions of cytoskeletal proteins such as filamins affect the development of these organ systems.
The genetics of digestive function: How a variation in copy number status of a pancreatic gene may lead to a gastrointestinal phenotype—An effort to link genotype and phenotype
presented by Annika Sjoeholm
Our understanding of the human genome and variation within it continues to grow at a startling speed, and this will increasingly impact upon our clinical practice. Many genes exist as multiple copies (such as duplications), and there is significant copy number variations (CNVs) of such multi-copy genes between individuals. CNVs of duplicated genes can influence both disease and normal phenotypic variation in humans, though we are often challenged in linking CNVs with phenotype due to constraints in current genotyping assays. Part of this PHD aims to link a change in copy number status of a pancreatic gene to a gastrointestinal phenotype observed in a local family, firstly by sampling copy number status in patients with unexplained gastrointestinal symptoms, and secondly by accessing linked genotype and phenotypic data in a large genetic biobank.
Open to DSM and SDHB staff, ALM students, and postgraduate students
|Date||Thursday, 7 December 2017|
|Time||1:00pm - 2:00pm|
|Event Category||Health Sciences|
|Department||Women's and Children's Health (DSM), Women's and Children's Health|
|Location||3rd Floor Seminar Room, Children's Pavilion, Dunedin Hospital|