@wcrismani.bsky.social
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
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
November 20, 2025 at 9:44 PM
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
ashpublications.org/bloodadvance...
Reposted
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
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
November 7, 2025 at 12:33 PM
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
go.nature.com/4hNDvuN
Reposted
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
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
🧵 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...
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...
www.medrxiv.org
November 7, 2025 at 2:10 AM
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
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
🧵 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...
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...
www.medrxiv.org
November 7, 2025 at 1:54 AM
🧵 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...
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...
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
September 22, 2025 at 11:23 PM
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...
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...
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…
www.sciencedirect.com
September 11, 2025 at 3:50 AM
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...
www.sciencedirect.com/science/arti...
Reposted
🚀 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.
🔬 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
March 19, 2025 at 2:18 PM
🚀 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.
🔬 We show that MutLγ is crucial for ZMM-dependent crossovers, with MUS81 unable to fully compensate for its loss.
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.
September 5, 2025 at 3:49 AM
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.
Reposted
🦘🧬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...
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
September 3, 2025 at 10:42 PM
🦘🧬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...
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...
Paper accepted! Shout out to co-first authors Hannah Fluhler, Elissah Granger and Michael Sharp.
July 30, 2025 at 4:45 AM
Paper accepted! Shout out to co-first authors Hannah Fluhler, Elissah Granger and Michael Sharp.
Reposted
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...
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
December 10, 2024 at 2:11 AM
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...
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...
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 ...
www.medrxiv.org
December 18, 2024 at 5:37 AM
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...
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.
December 18, 2024 at 5:32 AM
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!
December 18, 2024 at 5:23 AM
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!