Thrilled to share our human genetics discovery of the protective association between rare variants in CHRNB2 (encoding a subunit of nicotinic acetylcholine receptors) and smoking addiction, now out in Nature Genetics. See the reply for a detailed thread. Below is a short summary.

Check out this brand new work on the role of #H4K16ac in activating transposable elements, and making them function as #enhancers nature.com/articles/s4159… Funded by MRC UK Research and Innovation and Barts Charity 1/3

Fanzor is a eukaryotic programmable RNA-guided endonuclease | Nature nature.com/articles/s4158…

Thought the #telomere crowd would be interested in Hannah Raj's 1st publication, "The distribution and accumulation of the shortest telomeres in telomere biology disorders" doi.org/10.1111/bjh.18… #TeSLA #TBD @NCIEpiTraining British Journal of Haematology

Three of the more costly and frequently used reagents in molecular biology are rolling circle amplification (RCA) mix, chemically competent MachOne (or other E. coli) cells, and Gibson assembly mix. Postdoc Julian Willis—who is starting his own lab in the UK soon—developed

An Inspiring role model….. Edel O'Toole ….. bmj.com/content/382/bm… Blizard Institute Queen Mary University of London

Skin cancer rates are ~17-fold higher in the UK compared to Singapore despite that Singaporeans bathe in 2-3 fold more UV radiation than the British. A new study gets under the skin of the two ancestries to cast more light on this difference. In a new article in Nature Genetics,

In two independent Science studies, researchers used time-resolved crystallography at an x-ray free electron laser to capture the process of #DNA repair from picoseconds to microseconds. Learn more ⬇️ 📄: scim.ag/53L 📄: scim.ag/53K

Looking for high calibre candidates to conduct an exciting 4-year PhD project funded by MRC Toxicology Unit Integrative Toxicology Training Partnership with AstraZeneca. Click the link below for details and APPLY! #CardioImmunology #OoAC findaphd.com/phds/project/u…

DC Action and The Gary Woodward Dyskeratosis Congenita Trust invite you to a virtual Q&A with Professor Inderjeet Dokal, an expert on Dyskeratosis congenita and Telomere Biology Disorders. Coming soon - more information on signing up and how to submit your questions in advance.

Pleased to share our published work nature.com/articles/s4146… We show how PSIP1/LEDGF maintains genome stability by reducing R-loops & DNA damage during transcription. Grateful to Marie Skłodowska-Curie Actions for funding Jayakumar Sundarraj to join my lab from Bhabha Atomic Research Centre

Just out today we report a new X linked loci…and several novel variants in telomere biology disorder Dyskeratosis congenita. embopress.org/doi/full/10.10… And an excellent commentary by Guillermo Guenechea and Nestor W Meza embopress.org/doi/full/10.10…

Phenotypic variability in rare monogenic cases of telomere biology disorder with same genetic variant can be due to contribution of polygenic variation. Elegant study led by Vijay Sankaran Michael Poeschla in collaboration with Sharon A. Savage, M.D. and Us. medrxiv.org/content/10.110…

In a nutshell about telomere biology disorders led by Sharon A. Savage, M.D. and Alison Zarrella A Bertuch with support from researchers Team Telomere and Us. onlinelibrary.wiley.com/doi/10.1111/bj…

A great day at our first Telonet meeting. Thank you to everyone who is attending today. #telonet #DCAction

GATA1 therapy for Diamond-Blackfan anemia: Exciting breakthrough from Vijay Sankaran Lab offering a targeted and perhaps could be lasting relief for DBA patients. Cell Stem Cell cell.com/cell-stem-cell…

There is more to know about nucleotide salvage pathway in telomere length regulation. Excellent work coming from Suneet Agarwal Lab by Will Mannherz nature.com/articles/s4146…

Beautiful work demonstrating how common variants modify the penetrance of rare variants in both children and adults with telomere biology disorders (TBDs). According to the liability threshold model, rare and common variants additively raise disease risk beyond a threshold,

An excellent collaboration between Vijay Sankaran Sharon A. Savage, M.D. labs & our lab reveal how common genetic variants shape disease outcomes in rare telomere biology disorders (e.g. DC). A powerful step toward unravelling phenotypic variability in monogenic disease.