27 April 2018
Dr Emma Palmer, visiting scientist at the KCCG, has recently published two papers showcasing the power of genomics and collaboration between research and the clinic.
Dr Palmer’s role at KCCG has led to multiple genetic diagnoses for patients she has seen as a Clinical Geneticist at the Genetics of Learning Disability Service (GoLD).
Yet finding a diagnosis is not always straightforward, as is highlighted in one of her recent papers. She referred a young man with a severe, progressive neurological condition for genomic sequencing at the Garvan as he remained undiagnosed despite many years of clinical investigations. While they did not find any variants in the expected genes, they identified a rare variant in the ZSWIM6 gene.
“ZSWIM6 is a fascinating gene, with animal studies and genome wide association studies linking it to changes in brain functioning, so we continued to research it,” said Dr Palmer. After two years, they showed that the ZSWIM6 variant was the cause of not only their patient’s condition, but also of six other patients in the US and Europe.
“Understanding the underlying genetic cause can improve the clinical care for affected individuals, and access to support, resources, and genetic counselling for families,” said Dr Palmer.
As detailed in the paper, a range of international collaborators assisted with this project, including the Garvan team who did the genome sequencing and KCCG’s Dr Mark Cowley and Dr Andre Minoche who helped with analysis.
Dr Palmer’s visiting scientist position at the KCCG has also facilitated the analysis of exome and whole genomes for over 45 families affected by severe developmental or epileptic encephalopathies (DEE).
“Collaborating with the KCCG has been critical in reaching a diagnostic rate of over 60% for our DEE patient cohort, and delineating several novel genetic causes,” said Dr Palmer.
As Dr Palmer and her collaborators showed in another recent paper, genomic sequencing has a high diagnostic yield for DEE. Furthermore, it can result in more cost-effective return of genetic results for these conditions and many single gene disorders.
“One focus of our future diagnostic work is to try and understand the impact of non-coding and structural variants in DEE, and in this sphere our collaboration with the KCCG is a wonderful opportunity,” said Dr Palmer.