Presentation title: A Constitutional Case Report:  Mosaic Small Supernumerary Marker Chromosome (sSMC) of Chromosome 15 Origin

 Bio:Jen Finch is a senior scientist in Cytogenetics at Pathology Queensland, with 27 years’ experience in both private and public Cytogenetics laboratories.  She has worked as a team leader in malignancy, constitutional, prenatal and tissue teams and as a team member of the microarray team.  After gaining the MHGSA (Cytogenetics) in 2007 and becoming a senior scientist, she has mostly worked with the malignancy team.  Jen loves karyotyping and is passionate about patient equity in healthcare.

 

Presentation title: Exploring the Molecular Genetic Foundation of Hereditary Episodic Ataxias

Bio: Alody Sy is a Senior Scientist in Cytogenetics at Pathology Queensland and a part-time PhD candidate at QUT. Her research focuses on hereditary episodic ataxias using NGS approaches to improve variant detection and diagnostic outcomes.