@wcrismani.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.
November 7, 2025 at 1:54 AM
*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.
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
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.
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
September 11, 2025 at 3:50 AM
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.
September 11, 2025 at 3:50 AM
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.
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!
A high-resolution meiotic crossover map from single-nucleus ATAC-seq reveals insights into the recombination landscape in mammals
Abstract. Meiotic crossovers promote correct chromosome segregation and the shuffling of genetic diversity. However, the measurement of crossovers remains
academic.oup.com
September 5, 2025 at 3:49 AM
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!
Congratulations Piotr!
September 4, 2025 at 9:50 PM
Congratulations Piotr!