Registration 9:15AM – 10:00AM at Melbourne Brain Centre Auditorium
10:00AM – 12:00PM
Welcome address – Prof Andrew Sinclair, AFGN co-chair
Understanding and identifying genetic causes of kidney disease
Defining the genetic and developmental basis of complex lymphatic vascular anomalies
Resolving undiagnosed cases of differences of sex development via the regulatory genome
Functional characterisation of clinically relevant ERG gene variants helps describe a new disease entity, "ERG deficiency syndrome"
Neural crest specific roles for the ubiquitin ligase NEDD4 in congenital heart defects.
12:30 – 1:00PM Poster session A
1:00PM – 3:00PM
How good is good enough? Using emerging evidence for gene-disease relationships in clinical practice
RNA for Rare Disease project to embed RNA testing clinical practice for rare disorder diagnostics
Calibrating patch clamp assays for diagnosis and clinical interpretation of missense variants in channelopathies
CaRDinal: an Australian cloud-based platform for collaborative rare disease research analysis
The role of functional genomics in diagnosis of telomere biology disorders
3:00PM – 3:30PM
3:30PM – 4:00PM
Protein methylation and r-loop resolution: Role of PRMT5 during embryogenesis
Developing novel tailored therapeutics for people with familial hypercholesterolemia
Ectopic binding of CUX2 causes developmental and epileptic encephalopathy
Decoding SCN2A: a high-throughput approach to characterise variants associated with epilepsy and neurodevelopmental disorders
Dissecting HOPX variants of unknown significance in cardiac remodelling and disease
Functional analysis of disease associated NLRP3 variants
4:00PM – 5:00PM
Translating research knowledge into applied genomics practice; building process for functional data evaluation
Location: Science Gallery Melbourne, Melbourne Connect, at/114 Grattan St, Parkville VIC 3052
Time: Thursday 28th of November @ 6-9PM
Drinks and canapés will be provided. This will be a great opportunity to network, view the fascinating exhibit on display and chat to our sponsors about services and opportunities they offer.
Proudly sponsored by:
Arrival 8:45 – 9:00am at Melbourne Brain Centre Auditorium
9:00AM – 11:00AM
Development of MAVE assays and reporting of transcription factors involved in germline and somatic hematopoietic malignancy
RNA Variant Studies in Silent Genes: PERSYST
Predictive Tools for Personalised Medicine & Drug Development
A novel approach to uncover cryptic cases of immunodeficiency - A cell-based functional assay that accurately links genotype to phenotype in Familial HLH
Automatic embryo phenotyping reveals additional malformations in mouse models of human congenital disease
11:00AM – 11:30AM
11:30AM – 1:20PM
Identifying genetic causes of congenital heart disease
Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome
Genetic and biochemical characterisation of the novel CREB3L2 mutation, Q186Ter, in mice
Modelling hypertrophic cardiomyopathy using MYBPC3 genetic variants
Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans
1:50PM – 2:20PM Poster session B
2:20PM – 4:15PM
Using stem cells and retinal organoids to develop advanced cell therapy for blindness
Drosophila as an emerging treatment discovery tool for human inherited metabolic disorders
FISHing for diagnosis and therapies for neuromuscular disorders
Leveraging CNS organoid models of a genetic childhood white matter disease for disease mechanism discovery and therapeutics development
Treatments for those who have none: A platform from Western Australia to nationwide
4:15PM – 4:30PM
Addressed by Prof Sally Dunwoodie, AFGN Co-Chair