@wcrismani.bsky.social
www.medrxiv.org/content/10.6...
Fanconi Anemia as a Window into Premalignant Field Cancerization of the Oral Mucosa
Head and neck squamous cell carcinoma (HNSCC) evolves through stepwise clonal expansion within genetically altered mucosa fields, yet actionable biomarkers remain undefined. Leveraging Fanconi anemia ...
medrxiv.org
www.svi.edu.au/news-events/...
Running for Noah: Taking on the Sydney Marathon to support Fanconi anaemia research - SVI
When Oona lines up for the Sydney Marathon this August, every one of the 42 kilometres she runs will be for her nephew Noah and every other child living with Fanconi anaemia.
svi.edu.au
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...
Fancl-mutant mice reveal central role of monoubiquitination in Fanconi anemia and a model for therapeutic gene editing
Key Points. FanclTAT∆ mice lack ubiquitin ligase activity, and demonstrate central role of monoubiquitination in Fanconi anemia phenotypeCRISPR-Cas9 correc
ashpublications.org
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
Pressure to publish is rising as research time shrinks, finds survey of scientists
Researchers feel that pressures to publish are increasing, but the time and resources available to do research are decreasing, according to a survey by Elsevier.
go.nature.com
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
@wcrismani.bsky.social · 9mo ago🧵 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...
🧵 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...
Multi-lineage natural gene therapy mediated by embryonic triploid mosaicism in the context of Fanconi anaemia
Fanconi anemia is a rare inherited bone marrow failure syndrome caused by inactivation of genes in the Fanconi anemia/BRCA DNA repair pathway. We report a patient with X-linked Fanconi anemia, and aty...
medrxiv.org
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...
Differential PARP inhibitor responses in BRCA1-deficient and resistant cells in competitive co-culture
Synthetic lethality describes a genetic relationship where the loss of two genes results in cell death, but the loss of one of those genes does not. Drugs used for precision oncology can exploit synth...
dx.plos.org
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...
Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand
Fanconi anemia (FA) is a rare genetic condition that predisposes to progressive bone marrow failure, a specific spectrum of malignancies, including he…
sciencedirect.com
🚀 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.
Genetic dissection of MutL complexes in Arabidopsis meiosis
Abstract. During meiosis, homologous chromosomes exchange genetic material through crossing over. The main crossover pathway relies on ZMM proteins, includ
doi.org
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...
Australian Invited Speakers 2025
We are in the process of inviting a number of outstanding Australian leaders in the fields of DNA repair, Cell Cycle and Telomere biology. Current invited speakers include: Lisa Alcock, Curtain Uni…
australiancellcycle.org
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...
Meiosis: Exploring diversity to discover the fundamentals
Meiosis is an essential cell division for sexual reproduction and fertility across eukaryotes. It involves a series of tightly regulated processes, including entry into meiosis, pairing of homologs, …
meetings.embo.org
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...
Clinical and Genetic Spectrum of Fanconi Anaemia in Australia and New Zealand
Fanconi anaemia (FA) is a rare genetic condition which predisposes to progressive bone marrow failure, a specific spectrum of malignancies including head and neck squamous cell carcinoma (HNSCC), and ...
medrxiv.org
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!
