New paper out today by @genomestability.bsky.social ! Shout out to first authors Lu and Astrid.
FancL-mutant mice reveal central role of monoubiquitination in Fanconi anemia and a model for therapeutic gene editing
ashpublications.org/bloodadvance...
Scientists feel that the pressure to publish is rising, but that the time and resources they have to do the necessary research are falling, according to a survey of 3,200 researchers
go.nature.com/4hNDvuN
This is an amazing story
Recommended reading for anyone with even a passing interest in genetics, rare diseases, gene therapy, development...humans, biology, anything really!
It's been cool to watch as the picture has come together over the last year or so
@caitlinharris.bsky.social @stevannovakovic.bsky.social @genomestability.bsky.social
*Huge* thanks to the family for their generosity and trusting us with this research, and to our wonderful collaborators who helped solve a very challenging genetic case and reveal what we think is a newly described rescue mechanism of a monogenic condition, in some tissues.
In some of his cells, he carries an extra full set of chromosomes (69,XXY) inherited from his mum, including a functional copy of FANCB. This lineage now predominates in his marrow, with normal blood counts.
🧵 Our latest preprint is available.
It describes an extraordinary case of a boy with two very rare genetic conditions: Fanconi anaemia (FANCB, with a deep intronic pathogenic variant) and embryonic triploid–diploid mosaicism.
Read more here 👉 www.medrxiv.org/content/10.1...
Happy to share the latest paper from the lab looking at PARP inhibitor responses in isogenic BRCA1 cell line pairs, from the Master work of Shiella Amelia Soetomo and Michael Sharp: dx.plos.org/10.1371/jour...
A huge thank you to the families and participants who made this research possible—your contributions are invaluable. And of course, shout out to Hannah Hovermale, Elissah Granger, and Michael Sharp for their hard work on this project, all collaborators and St Vincent's Institute of Medical Research
We found evidence suggesting that FA is under-diagnosed in Australia, and more testing identifies more cases, and that males are more likely to be tested than females. The reasons behind these observations are unclear and deserve further investigation.
I feel incredibly privileged to share this study on Fanconi anaemia, based on a small but important cohort. This work describes the genetics and clinical outcomes of patients in Australia and New Zealand with a diagnosis of FA.
www.sciencedirect.com/science/arti...
🚀 Our collaborative work with @monica-pradillo.bsky.social, "Genetic dissection of MutL complexes in Arabidopsis meiosis," is now published in NAR! 🌱 doi.org/10.1093/nar/...
🔬 We show that MutLγ is crucial for ZMM-dependent crossovers, with MUS81 unable to fully compensate for its loss.
Beyond advancing our understanding of recombination biology, this approach also opens the door to applications in detecting fertility-related issues and identifying genetic conditions at the single-cell level. Exciting to see where this will lead in the next stage of the project!
Thrilled to share our latest work on meiotic recombination, where we mapped rates and distributions by sequencing thousands of individual sperm. This study was led by Stevan Novakovic and @caitlinharris.bsky.social , in collaboration with @davisjmcc.bsky.social and Cynthia Liu.
🦘🧬Australian invited speaker list finalised for the
2025 Cell Cycle, DNA repair and Telomere Meeting!
Friday 5 Sep is your last chance to register at the EARLY BIRD rate & submit an abstract 🤩
australiancellcycle.org/australian-i...
Congratulations Piotr!
Paper accepted! Shout out to co-first authors Hannah Fluhler, Elissah Granger and Michael Sharp.
Registration now open for the 2025 EMBO workshop on Meiosis! June 22-26, 2025, Engelberg, Switzerland.
Deadline for abstract submissions and registration is Feb 15th, 2025. Lots of speaker slots will be selected from abstracts, so apply now! meetings.embo.org/event/25-mei...
A recent preprint from the team, about the clinical and genetic spectrum of Fanconi anaemia in Australia and New Zealand. It also underscores the value of higher testing rates in detecting more cases.
www.medrxiv.org/content/10.1...
Thanks to the team for a great year and a very chilled end of year lunch in Carlton gardens.
Congratulations to Shiella Amelia Soetomo on completing an excellent Masters thesis on developing tools to measure synthetic lethality. Shout out to co-supervisor Michael Sharp!
