Identifying rare immune diseases, one gene at a time | Seminar скачать в хорошем качестве

Identifying rare immune diseases, one gene at a time | Seminar

Learn how genetic testing is transforming mysterious childhood illnesses into treatable conditions. Join us for a public seminar featuring Prof Stuart Tangye, Dr Shruti Swamy, and parent advocate Nico Roux, whose daughter Stella was one of only five Australians diagnosed with DOCK8 immunodeficiency syndrome through genetic testing. Many children with rare immune diseases face years of unexplained symptoms: recurring infections, mysterious rashes, chronic inflammation. These conditions, called inborn errors of immunity, affect over 560 different genes, making diagnosis extremely challenging. The difference a genetic diagnosis makes, though, is life-changing. It can reveal targeted treatment options when they exist, guide medical management, and help families understand what they’re facing – even when treatments are still being developed. Hear how Garvan and CIRCA (Clinical Immunogenomics Research Consortium Australasia) are using genomic sequencing to identify these rare conditions and connect families with effective treatments.