We are excited to announce a two year fellowship to Dr Emma Baker from the Murdoch Children’s Research Institute in Melbourne.
Dr Emma Baker is a post-doctoral Research Officer within the Diagnosis and Development group at the Murdoch Children’s Research Institute. Dr Baker is an autism specialist with extensive experience working with individuals with neurodevelopmental disorders that present with an autism phenotype, including Fragile X, Prader-Willi, Angelman and Chromosome 15 Duplication Syndromes.
Gene expression is the process by which the information in a gene, DNA, is made into a functional gene product such as protein or RNA. DNA is transcribed into RNA, which is then translated into proteins.
UBE3A is a gene that is important for typical neurodevelopment and functioning of the nervous system. People normally inherit two copies of the UBE3A gene, one from each parent. Both copies of the gene are turned on in most of the body’s tissues. However, in certain areas of the brain, only the copy inherited from the mother is active, the maternal copy. This phenomenon of parent-specific gene activation is called ‘genomic imprinting’. Angelman syndrome is caused by loss of the maternal UBE3A gene function which is located in the imprinting region of chromosome 15, resulting in a lack of the UBE3A protein in the brain.
As part of our earlier studies in Prader-Willi syndrome and Angelman syndrome we examined gene expression of UBE3A and other important genes that are located in the chromosome 15 imprinting region. We conducted these studies in white blood cells, using state-of-the art technologies. We found that gene expression was associated with several of the clinical features that are commonly observed in each syndrome.
Our current research aims to confirm these findings in Angelman syndrome by studying a larger Australian cohort of 40 individuals with Angelman syndrome, recruited over two years. Detailed analysis of blood biomarkers, such as RNA, has the potential to: (i) open new avenues for better grouping of patients for clinical trials via a ‘personalised medicine’ approach; (ii) develop new treatments that can be monitored using bio-specimens collected from blood or target new biological pathways characterised in this project; and (iii) lead to a better understanding of the biological mechanisms that cause AS.