Excited to share this preprint that I led together with @liamcato@RLi_Sci_Twi@bloodgenes. We carried out a multi-ancestry GWAS on 28,279 individuals across 5 continents for fetal hemoglobin levels and identified BACH2 as a novel regulator of HbF.
We know that fetal hemoglobin is an important modifier of sickle cell disease and thalassemia.
How is it regulated?
Please check out our preprint: "Genetic regulation of HbF across global populations" by @liamcato, #RickLi, @realHenryLu, & co:
https://t.co/98nKhPlUFB
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I really enjoyed writing this piece with @bloodgenes and Dr. Stuart Orkin reviewing fetal hemoglobin regulation in beta-thalassemia. Out today in Hematology/Oncology Clinics of North America. https://t.co/jD7g7zrV0U
Remarkable that since our preprint from last year describing the first two reported individuals with germline GOF STAT6 variants, we have identified 14 additional individuals with this disorder! Dupilumab and JAK inhibitors are potentially helpful treatment options.
Happy to have been involved with the workup of this international cohort of 16 patients with germline gain-of-function variants in STAT6 leading to severe allergic disease out today in @JExpMed. Led by Dr. Mehul Sharma, @TurveyLab@BeziatV@ManaMomenilandi@dan_leung_ and more!
Happy to share the first reported case of homozygous missense CARD11 deficiency, which leads to inflammatory skin disease. I led this work as a Friedman Scholar @USUhealthsci@NIH together with Dr. Amie Nguyen @aboutKP, Dr. Andrew Snow, @TurveyLab https://t.co/BG6Ajx2l8b
@KingOfPathogens@SciImmunology To my knowledge, no. The most frequently detected was Pneumocystic jirovecii. Sharing the supplement here: https://t.co/DfVEbzYkpw
Excited to share our latest study out today in @SciImmunology describing a novel cause of combined immunodeficiency in 7 patients across 4 continents caused by a multimorphic IRF4 mutation. https://t.co/ciozoqU8Z7
I'm excited to announce that next, I will be moving to Boston to work with Dr. Vijay Sankaran @bloodgenes@harvardmed@BostonChildrens to study the genetic determinants of blood cell production and function. Looking forward to doing some more great science!
Bittersweet news. Today is my last day in the @TurveyLab. Thank you for being such an outstanding place to train and grow in. Dr. Turvey is a fantastic mentor and scientist and I look forward to continuing to follow work coming out of his lab.
Delighted to share our evaluation of the first reported human individual with biallelic germline NFAT1 deficiency! This individual presented with osteochondromas, severe joint contractures, and susceptibility to B cell malignancy. Out today in Blood!
📢📢📢Just out in @BloodJournal today📢📢📢
We report the first human with complete deficiency of nuclear factor of activated T cells 1 (NFAT1).
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B cell malignancy https://t.co/ec3drRS5ap