Sharon Savage
@telomeredoc.bsky.social
🧬 📊 🧫 🧪 Views expressed are mine and mine alone
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
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.
nature.com
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
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
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
“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...
nature.com
📢 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
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.
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