Reposted by Sharon SavageTeam Telomere @teamtelomere.bsky.social · 22/01/2025Camp Sunshine applications for Team Telomere’s Community Summit is now open! Head to our website to apply today! teamtelomere.org/resources/ca... #TeamTelomere #TTCamp25 #Telomere #DyskeratosisCongenita #BetterTogether 031
Reposted by Sharon SavageMagdalena Skipper @magdalenaskipper.bsky.social · 09/12/2024It’s this time of year again - Nature’s 10 - Ten people who helped shape science in 2024… @natureportfolio.bsky.social www.nature.com/immersive/d4...nature.comNature’s 10: the people who helped shape science in 2024A fraud buster, a nuclear-clock maker and a virus hunter. These are just a few of the remarkable people chosen for this year’s Nature’s 10. 15014
Sharon Savage @telomeredoc.bsky.social · 08/12/2024Genome-first approach data GATA2, RUNX1, ETV6 defines population prevalence of pathogenic variants. Age at myeloid malignancy w/ DDX41 similar to age in general population but risk higher. #ASH24 #Leukemia Dr McReynolds #NCI_ClinicalGenetics 030
Sharon Savage @telomeredoc.bsky.social · 08/12/2024Who’s ready to run?! Fog is burning off. Beautiful day ahead #ASH24 #5K #ASHFoundation 040
Reposted by Sharon SavagePedsHemeDoc @pedshemedoc.bsky.social · 07/12/2024Happy “take pics of slides that interest you that you’ll never look at again” weekend to all who celebrate! 🤣😭🤷♀️ #ASH24 #ItsATradition 3503
Sharon Savage @telomeredoc.bsky.social · 07/12/2024The #CCCTAA at #ASH24. Look for important international collaborative studies on #telomere biology disorders in the near future. @teamtelomere.bsky.social is a key partner. Reach out to join the Clinical Care Consortium of Telomere Associated Ailments 🧬 #teamscience 0123
Reposted by Sharon SavagePiers Blombery @pbmd99.bsky.social · 07/12/2024Dr. Ing Soo Tiong from @petermaccc.bsky.social presenting his excellent work at #ASH24 on how the remission clonal haematopoietic landscape is shaped by venetoclax in pts with AML. TP53 and BAX microclones! With a bit more sensitive sequencing tech we will find the nanoclones… #hemepath #hemesky 093
Sharon Savage @telomeredoc.bsky.social · 07/12/2024An inspiring talk by Dr Jain on her groundbreaking work on #SCD in India - defining the disease, practical approaches to therapy, and patient advocacy #ASH24 #sicklecelldisease 110
Reposted by Sharon SavageMiguel Godinho Ferreira @miguelgf.bsky.social · 30/11/2024“In this Review, we discuss #telomere protection, maintenance and damage. We highlight the differences between #human and #mouse telomere biology that may contribute to discrepancies between human #diseases and mouse models.” #telomerase #aging www.nature.com/articles/s41...nature.comTelomere function and regulation from mouse models to human ageing and disease - Nature Reviews Molecular Cell BiologyTelomere dysfunction, usually owing to shortening, activates cellular senescence and can contribute to age-associated diseases and cancer. Mouse models are crucial for telomere research, but human and... 15513
Reposted by Sharon SavageLisa Heinke @lisaheinke.bsky.social · 02/12/2024📢 New @natrevmcb.bsky.social Review! Jan Karlseder et al. discuss telemore (dys)function in ageing & disease, and efforts to generate a humanised mouse model for telomere research. go.nature.com/3ZxZuhS #NatRevMCBgo.nature.comTelomere function and regulation from mouse models to human ageing and disease - Nature Reviews Molecular Cell BiologyTelomere dysfunction, usually owing to shortening, activates cellular senescence and can contribute to age-associated diseases and cancer. Mouse models are crucial for telomere research, but human and... 0176
Sharon Savage @telomeredoc.bsky.social · 07/12/2024Saving the best (but I “may” be biased) for last in #ASH24 germline workshop - Dr. Maryam Rafati from #NCI_ClinicalGenetics presenting on heterozygous #DNA repair gene variants & #HCT outcomes. MUTYH carriers had poorer outcomes if received #TBI Collab w/ #CIBMTR 041
Reposted by Sharon SavageShematologist, MD @shematologist.medsky.social · 06/12/2024Gave a talk on social media this morning at #ASH24 Someone asked about the longevity of BlueSky and I answered optimistically. So don’t make me look dumb y’all. 1328515
Sharon Savage @telomeredoc.bsky.social · 02/12/2024First post @bsky.app on my first scientific love - discovering the causes of complex #raredisease. POLA2 as a new cause of #telomere biology disorders. rdcu.be/d1UgBrdcu.beIdentification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorderEuropean Journal of Human Genetics - Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder 062
