Tummala H
@hemanth_tummala
Senior Lecturer in genetics 🧬 and molecular biology 🧪 of bone marrow failure syndromes 🩸
An excellent collaboration between @bloodgenes @SharonSavageMD 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.
Delighted to have our work on Polygenic Modifiers of #TelomereBiologyDisorders, led by @michaelpoeschla, along with @SashaGusevPosts, @mitchiela, @SharonSavageMD, @hemanth_tummala, and others, published as an advanced online paper in @jclinicalinvest today:…
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,…
Delighted to have our work on Polygenic Modifiers of #TelomereBiologyDisorders, led by @michaelpoeschla, along with @SashaGusevPosts, @mitchiela, @SharonSavageMD, @hemanth_tummala, and others, published as an advanced online paper in @jclinicalinvest today:…
There is more to know about nucleotide salvage pathway in telomere length regulation. Excellent work coming from @Agarwal_Lab by @wmannherz nature.com/articles/s4146…
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 @bloodgenes Lab offering a targeted and perhaps could be lasting relief for DBA patients. Cell Stem Cell cell.com/cell-stem-cell…
In a nutshell about telomere biology disorders led by @SharonSavageMD and @Alison A Bertuch with support from researchers @TeamTelomereInc and Us. onlinelibrary.wiley.com/doi/10.1111/bj…
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 @bloodgenes @michaelpoeschla in collaboration with @SharonSavageMD and Us. medrxiv.org/content/10.110…
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…
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 @MSCActions for funding @jay_sundarraj to join my lab from @IndiaBARC
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.
Looking for high calibre candidates to conduct an exciting 4-year PhD project funded by @MRC_TU Integrative Toxicology Training Partnership with @AstraZeneca. Click the link below for details and APPLY! #CardioImmunology #OoAC findaphd.com/phds/project/u…
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
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 @NatureGenet,…
An Inspiring role model….. @EdelOToole ….. bmj.com/content/382/bm… @blizard_inst @QMUL
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…
Thought the #telomere crowd would be interested in @HannahRaj_'s 1st publication, "The distribution and accumulation of the shortest telomeres in telomere biology disorders" doi.org/10.1111/bjh.18… #TeSLA #TBD @NCIEpiTraining @BrJHaem
Fanzor is a eukaryotic programmable RNA-guided endonuclease | Nature nature.com/articles/s4158…
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 @UKRI_News and @Barts_Charity 1/3
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 @NatureGenet. See the reply for a detailed thread. Below is a short summary.…