Sharon Savage

#science #medicine #everything

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

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.

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...

😊

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

Who’s ready to run?! Fog is burning off. Beautiful day ahead
#ASH24 #5K #ASHFoundation

Happy “take pics of slides that interest you that you’ll never look at again” weekend to all who celebrate! 🤣😭🤷‍♀️ #ASH24 #ItsATradition

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

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

More than 50 million screened, to date. Amazing program aimed at reducing the burden is #SCD in #India
#ASH24

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

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...

“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...

📢 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

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

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.

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

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