Tasneem Toefy

MPhil Biomedical Forensic Science student

Thesis title: Case report: investigation of sudden unexpected death in the young using a molecular autopsy
Supervisor: A/Prof Laura Heathfield

Sudden unexpected death in the young (SUDY) is characterised by the abrupt and unexpected death of individuals between the ages of 1 and 40 years. These cases pose significant challenges to the field of forensic pathology and medical genetics, as the underlying causes often elude conventional post-mortem investigations. The primary aim of this study is to identify or propose potential genetic variants that could explain or contribute to the sudden and unexpected death of a SUDY case(s) through comprehensive molecular autopsy procedures. Previously generated massively parallel sequencing (MPS) data files will undergo bioinformatic analysis and genetic variants will be assessed for pathogenicity using the guidelines by the American College of Medical Genetics and Genomics in attachment with the Association for Molecular Pathology (ACMG/AMP). This study holds the potential to add to the research in the field shedding light on underlying causes of SUDY and will provide necessary closure to distraught families of the deceased.