🩸Today's question! See the answer and explanation on the next slide.
#Hematology #FanconiAnemia #FA #BoneMarrowFailure #InheritedBoneMarrowFailure #HCT #StemCellTransplant #ConditioningRegimen #Cyclophosphamide #TransplantMedicine #PediatricHematology #HEMEHUB
🩸Facts about Inherited Bone Marrow Failure Syndromes:
Emerging Therapies & Future Directions
#GeneTherapy #FanconiAnemia #BoneMarrowFailure #Hematopoiesis #StemCellTherapy #ClinicalTrials #RareDiseases #DyskeratosisCongenita #Hematology #HEMEHUB
🩸Facts about Inherited Bone Marrow Failure Syndromes:
Long-term Complications & Surveillance
#FanconiAnemia #IBMFS #HCT #SecondaryMalignancy #HNSCC #HPV #EndocrineDysfunction #ClinicalHematology #TransplantMedicine #Hematology #HEMEHUB
💡 Today's question! See the answer and explanation on the next slide.
#Hematology #FanconiAnemia #BMF #HCT #GVHD #BoneMarrowFailure #RareHematology #MedEd #HemeHub
🩸Facts about Inherited Bone Marrow Failure Syndromes:
Diagnostic Nuances & Clinical Presentation
#BoneMarrowFailure #InheritedDisorders #IBMFS #FanconiAnemia #DyskeratosisCongenita #Telomeres #GeneticTesting #RareDiseases #Hematology
🩸🧬 Facts about Inherited Bone Marrow Failure Syndromes: Somatic reversion, ribosomopathies, and GATA2 deficiency demonstrate the varied genetic causes behind marrow failure and related complications.
#BoneMarrowFailure #BMF #IBMFS #FanconiAnemia #Ribosomopathy #SomaticReversion #Hematology #HemeHub
Genetic Counseling Follow Up #bladdercancer #genetictesting #rad51c #invitae #fanconianemia
www.tiktok.com/t/ZTrfWmMRd/
Why Metabolism Matters in #FanconiAnemia. New study from #cancer experts at #CincinnatiChildrens. Study: www.science.org/doi/10.1126/... Blog post: scienceblog.cincinnatichildrens.org/why-metaboli...
No, not that FANCL!
New paper on FancL mutant mouse just out in @bloodadvances.bsky.social shows essential function of E3 RING ligase activity to phenotypes of #FanconiAnemia plus, Black Friday deal: a new model for testing gene editing therapies: ashpublications.org/bloodadvance...
🩸This study shows that hematopoietic cell transplantation is the only curative option for blood complications, with better outcomes when done early and with reduced-toxicity regimens.
🔓https://doi.org/10.46765/2675-374X.2025v6n1e288
#FanconiAnemia #DyskeratosisCongenita #Anemia #Hematology #JBMTCT
BioGRID #CRISPR Database v2.0.18 is released w/ 2,217 screens from 418 different publications including 94,000+ genes, 825 cell lines, 145 cell types & 29 phenotypes including 101 #glioblastoma related screens and 116 #fanconianemia related screens 🧪
@biogrid.bsky.social
Study highlights clinical and genetic spectrum of Fanconi anaemia in Australia and NZ, urging increased testing and awareness for diagnosis and management. bit.ly/4g65S6p #GIMO #FanconiAnaemia #FanconiAnemia #ChromosomeFragilityTest #ChromosomeBreakageTest #DNARepair
Recessive FANCM #CancerPredisposition syndrome, distinct from #FanconiAnemia, is associated with susceptibility to #HeadandNeckCancer and #ChemotherapyToxicity. bit.ly/45tgsiT
ALDH9A1 deficiency as a source of endogenous DNA damage that requires repair by the #FanconiAnemia pathway. From Moonjung Jung, Jungwoo Kim, Agata Smogorzewska @rockefelleruniv.bsky.social and colleagues: rupress.org/jcb/article/...
#CellMetabolism #DNAbiology #Disease #Genetics #DNADamage
In @jcb.org, Moonjung Jung, Jungwoo Kim, Agata Smogorzewska @rockefelleruniv.bsky.social et al. show that combined ALDH9A1 and FANCD2 deficiency leads to genomic instability, decreased cell survival, and tumorigenesis. rupress.org/jcb/article/...
#DNADamage #FanconiAnemia
Moonjung Jung, Jungwoo Kim, Agata Smogorzewska @rockefelleruniv.bsky.social and colleagues show that combined ALDH9A1 and FANCD2 deficiency leads to genomic instability, decreased cell survival, and tumorigenesis. rupress.org/jcb/article/...
#DNADamage #FanconiAnemia
What is the load & profile of #hereditarycancer linked germline variants in infertile compared to fertile men? Study showed almost 5-fold enrichment of disease causing findings in hereditary cancer genes in infertile vs. fertile men.
#BRCA2 #fanconianemia #menshealth #oncsky #cancerresearch
Fanconi Anemia research
New #FanconiAnemia research funded partly by CHOP's Cell & Gene Therapy Collaborative illustrates how a novel in vivo #GeneTherapy strategy could hold promise for patients. Learn more: http://ms.spr.ly/63323UfrHf
Led by #CIEMAT 's Biomedical Innovation Unit, a study demonstrates that gene therapy halted bone marrow failure in 62.5% of Fanconi anemia patients without the need for toxic conditioning, with safety and efficacy sustained over a 7-year follow-up👏🏻. #GeneTherapy #FanconiAnemia
POLθ inhibitors suppress chromosome radials in #FanconiAnemia cells, and sustain breaks that map to common fragile sites
www.cell.com/cell-reports/fulltext/S2...
Cool study @NatureComms shows adenine base editing correction of #FanconiAnemia cells to wild-type sequence @jcornlab @PauFerrol https://www.nature.com/articles/s41467-022-34479-z
The #FanconiAnemia pathway protects genome stability in germline through suppression of replication-transcription conflicts
https://www.pnas.org/doi/full/10.1073/pnas.2203208119
#FanconiAnemia proteins FANCI and FANCD2 are required for genomic integration of HIV
www.cell.com/cell-reports/fulltext/S2...
Today is the last day to submit your abstract to the July #FanconiAnemia virtual scientific symposium series @FAresearchfund:
www.cvent.com/c/abstracts/0314b409-f9b...
Get your abstracts ready for the July #FanconiAnemia day meetings hosted by @FAresearchfund in place of the annual symposium for 2021:
https://www.fanconi.org/explore/scientific-symposium
Beautiful cryo-EM data showing the human #FanconiAnemia core complex, at 3.1Å, and additional insight into how it remodels FANCD2:FANCI into a clamp on DNA @NatureSMB
https://www.nature.com/articles/s41594-021-00568-8
Here is my @BloodJournal intro to a cool new paper from Minoru Takata lab showing that SLFN11 deletion can rescue viability of #FanconiAnemia cells ashpublications.org/blood/article/137/3/286/...
Great new paper on the genetic dependencies of #FanconiAnemia cells from Lei Li lab - the normally non-essential DNA polymerase iota is essential to the survival of FANCD2-, FANCG- or FANCL-deficient cells
https://doi.org/10.1073/pnas.2008821117
We wrote a short intro on two amazing new papers relating to #FanconiAnemia in the latest @MolecularCell @winn5tan
https://authors.elsevier.com/a/1cFt93vVUPDf-E
