Cross-ancestry GWAS of serum urate levels in >1 million individuals. The SNP-based heritability of serum urate in Europeans is 8.7% (East Asians - 11.9%) of which, impressively, ~96% (East Asians - 71%) can be now explained by genome-wide significant SNPs. At least in Europeans,…

I absolutely love examples of human genetics informing drug adverse effects. A fascinating new example I learned today, thanks to Ben Williams for pointing to me.

Many would be familiar with the immune checkpoint inhibitors used in the treatment of many cancers…

Mosaic loss of Y chromosome is more frequent in the 'the European American (EA) ancestry group compared to those of Hispanic American (HA), African American (AA), and East Asian (EAS) ancestry.' based on analysis of ~25k TOPMed genomes.
Jakubek et al. MedRxiv…

Please also check out the recently released Chronic myelomonocytic #leukemia : 2024 update on Dx, risk stratification and management from Drs. Mrinal Patnaik & Ayalew Tefferi
Including #CMML clonal evolution & unique associations
Free access: doi.org/10.1002/ajh.27…
#hemepath

Kicking off Day 2 at #MDSUSFocus Meeting with a bang! 🚀 Rami komrokji sets the stage for an electrifying session with the one and only Mrinal Patnaik on #CCUS ! 🔥 Get ready for an epic day of learning and inspiration! 🌟 MD Education #MedTwitter

Advanced map of human blood stem cells could guide highly targeted leukemia care. Lee Grimes Lab Nathan Salomonis Read more: scienceblog.cincinnatichildrens.org/advanced-map-o…

A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies ... ncbi.nlm.nih.gov/pmc/articles/P… Irbaz Riaz MD,MS,MBI,PhD Mayo Clinic Comprehensive Cancer Center #Germlinematters #Lymphoma #PID

Genetic variation is relatively poorly studied in the Middle East, particularly where endogamy and consanguinity are more common. Among 6K WGS in Qatar, 2 in 3 (!) was a carrier for a pathogenic mutation for an autosomal recessive condition. link.springer.com/article/10.118……

Download or request a copy of the Telomere Biology Disorders: Diagnosis and Management Guidelines teamtelomere.org/diagnosis-mana…. Nearly 60 expert clinicians and scientists collaborated to publish these guidelines, and more than 350 physical copies have been distributed globally.

We are on the cover of Cancer Cell! Check out our latest story on ARID1A and BAF remodeling complex in lymphoma: doi.org/10.1016/j.ccel…
Led by Darko Barisic Christopher Chin.
WCM Lymphoma Weill Cornell Medicine Meyer Cancer Center Weill Cornell Medicine Cancer Cell

Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ???

I didn’t initially either, but here is the story of RNU4-2 🧵1/9

Myelodysplastic neoplasms evolving from inherited bone marrow failure syndromes / germline predisposition syndromes… pubmed.ncbi.nlm.nih.gov/38301422/ #ContextrelevantMDS #GPS #IBMF Mayo Clinic Comprehensive Cancer Center Joseph D. Khoury, MD, FCAP

So great to see Mrinal Patnaik give a fantastic talk on Telomere Biology Disorders UNC Lineberger Hematology Grand Rounds! Always learn so much from Mrinal Patnaik- Thanks for coming to Chapel Hill!

TP53 function over forms in multiple myeloma
ow.ly/KNzZ50R6urG #lymphoidneoplasia

The impact of cytotoxic therapy on the risk of progression and death in clonal cytopenia(s) of undetermined significance ashpublications.org/bloodadvances/… #TCCUS Mayo Clinic Comprehensive Cancer Center

.Aadel Chaudhuri, MD PhD, radiation oncologist, will join MCCCC from SitemanCancerCenter Wash U Radiation Oncology beginning April 2. Dr. Chaudhuri will partner with Mrinal Patnaik & Jewel Samadder, M.D., as co-leader of the Cancer Ind. Med Office and vice chair of Translational Research in Mayo Clinic Radiation Oncology.

#IBC24 - great talks outlining our understanding of the biology of CH, MGUS, SMM , CCUS & progression to MM or myeloid malignancy .Privileged to hear experts Mrinal Patnaik Iannis Aifantis Science and Innovation at Cancer Research UK Eric Padron MD Kelly Bolton MD PhD . & regulatory experts FDA Oncology on…

Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis. pubmed.ncbi.nlm.nih.gov/38461429/ #Telomere #TBD #ILD MayoPCCM Mayo Clinic Center for Individualized Medicine Team Telomere

IDH Mutant Myeloid Neoplasms are Associated with Seronegative Rheumatoid Arthritis and Innate Immune Activation. pubmed.ncbi.nlm.nih.gov/38457663/ Mayo Clinic Comprehensive Cancer Center Royal Adelaide Hospital #IDH #Rheumatology

Chronic myelomonocytic leukemia: 2024 update on diagnosis, risk stratification and management. pubmed.ncbi.nlm.nih.gov/38450850/ Five tables, 7 figures and 13 years of work summarized! #CMML #ASXL1 Mayo Clinic Comprehensive Cancer Center The Leukemia & Lymphoma Society AA&MDSIF