I perform translational research for patients with rare diseases, testing functional consequences of the patient’s mutations to determine whether they cause the disease. Some of these tests involve CRISPR/Cas9 gene editing to insert a genetic change into cell lines, which are then assayed to see whether the activity of the gene is altered due to the mutation. Currently, together with collaborators within WTCHG and at the WIMM, we are testing the effect of different mutations on a gene that causes a rare form of epilepsy. We are also working together with a group in the Biochemistry department to find out whether an alteration in RNA binding is involved in a developmental syndrome. Determining the genetic causes of rare diseases can help in treatment decisions, may discover novel pathways involved in the disorder, and could contribute to identifying new/re-purposed medicines for improved treatment of patients.
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma
Winter H. et al, (2019), Cancers, 11, 1895 - 1895
Conserved properties of genetic architecture of renal and fat transcriptomes in rat models of insulin resistance.
Otto GW. et al, (2019), Disease models & mechanisms, 12
Delineation of dominant and recessive forms of
‐associated Noonan syndrome
Pagnamenta AT. et al, (2019), Clinical Genetics, 95, 693 - 703
Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series
Domingo E. et al, (2018), The Lancet Gastroenterology & Hepatology, 3, 635 - 643
Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons
Calderari S. et al, (2018), Genomics, 110, 98 - 111