Sharon Savage
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telomeredoc.bsky.social
Sharon Savage
@telomeredoc.bsky.social
🧬 📊 🧫 🧪
Views expressed are mine and mine alone
February 15, 2025 at 12:45 PM
February 9, 2025 at 4:00 PM
Reposted by Sharon Savage
Camp 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
January 22, 2025 at 9:51 PM
Reposted by Sharon Savage
It’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’s 10: the people who helped shape science in 2024
A 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.
www.nature.com
December 9, 2024 at 7:07 PM
😊
Emotional intelligence was positively related to emoji use with friends, while avoidant attachment was negatively related to emoji use with friends and dating or romantic partners. @plos.bsky.social

journals.plos.org/plosone/arti...
December 9, 2024 at 4:10 PM
Genome-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
December 8, 2024 at 7:00 PM
Who’s ready to run?! Fog is burning off. Beautiful day ahead
#ASH24 #5K #ASHFoundation
December 8, 2024 at 3:11 PM
Reposted by Sharon Savage
Happy “take pics of slides that interest you that you’ll never look at again” weekend to all who celebrate! 🤣😭🤷‍♀️ #ASH24 #ItsATradition
December 7, 2024 at 6:04 PM
The #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
December 7, 2024 at 10:18 PM
Reposted by Sharon Savage
Dr. 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
December 7, 2024 at 7:17 PM
An 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
December 7, 2024 at 9:01 PM
Reposted by Sharon Savage
“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...
Telomere function and regulation from mouse models to human ageing and disease - Nature Reviews Molecular Cell Biology
Telomere 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...
www.nature.com
November 30, 2024 at 6:02 AM
Reposted by Sharon Savage
📢 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

#NatRevMCB
Telomere function and regulation from mouse models to human ageing and disease - Nature Reviews Molecular Cell Biology
Telomere 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...
go.nature.com
December 2, 2024 at 1:01 PM
Saving 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
December 7, 2024 at 1:27 AM
Reposted by Sharon Savage
Gave 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.
December 6, 2024 at 10:43 PM
First 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/d1UgB
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder
European Journal of Human Genetics - Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder
rdcu.be
December 2, 2024 at 4:23 PM