Paediatric Oncologist, Cancer Geneticist and post graduated researcher at Kids Cancer Centre (SCHN) and Childrens Cancer Institute. Sydney. Views are my own.
Just published: latest manuscript from The Replication Repair Deficiency Consortium (IRRDC) @ASCO_pubs. "Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance." Open access. Thread ⤵️ https://t.co/KnufDVYQmi
#ZeroChildhoodCancer would not be possible without the trust of patients and their parents. Enormous thanks to the large and tireless team of scientists, clinicians and leadership team throughout Australia who make this happen. Special thanks to Computational Biology Group! /18
Incorporating somatic features from the tumour, including tumour mutation burden, mutational signatures and somatic second hit mutations informed the pathogenicity assessment of the germline variants. Informatics led by @MarkPinese /11
When we focussed on the germline #WGS, we found 16% of patients had a pathogenic cancer predisposition variant; 2/3 of these were not known before #Zero & has big implications for identifying at-risk individuals before they develop cancer. Far higher # than expected. /10
I'm very pleased to announce our publication "Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk paediatric cancer" online today in @NatureMedicine https://t.co/1iwP4nqBlo Here's a tweetorial of the main findings 1/22
It's official: incredibly honoured and grateful to be the recipient of the Emerging Research Leader program grant, thanks to the generous support from @CanTooRunSwim! Let's do this!! @AMFordham@KidsCancerInst#sarcoma
Thank you to every one of you for your amazing support throughout 2019. Thanks to you, together we are closer than ever to our vision of curing all children of cancer.
#CuringChildhoodCancer#ItsNotIfItsWhen
My new paper reporting genetic health professionals' experiences returning causative variants, negative findings, unsolicited findings and VUS to their patients @MCRI_for_kids@unimelb@CBMER_KULeuven
Hi #ABACBSGIW19 attendees, I'm hiring multiple #bioinformatics / #computationalbiology postdocs early next year in the areas of paediatric precision cancer medicine, large-scale genomic analysis on the cloud, noncoding variation, liquid biopsy, machine learning. DM me!
A little history of medicine: In this building in Berlin Westend, the Children's Hospital of the Free University of Berlin was housed in the 1970s and 1980s. Here the West Berlin protocol for treatment of acute lymphoblastic leukemia was initiated as basics for BFM studies.
Thanks so much Ursula! We know that #uncertainty can be such a big part of the patient and healthcare provider experience of #precisionmedicine and #genomics