Top Tweets for #Monogenic
@MondayNightIBD @ericbenchimol @DrChrisMoran @ibdtweets @MRegueiroMD @ibdgijami @BenClickMD @Siyan_Cao @SuhaAbushamma @DrJordanAxelrad @IBD_DrEMF @Gastro4Kids @BenjamminGold @DrRosenIBD @jlightdale @raghu_vikram @JenniferLeeLee1 @GutMD_ @sabpeds @JonathanMoses77 @johnmrosen @dr_rdvenkatesh @PLLU @vaibhav_manu @malloc_doc @hilarykmichel @JKurowskiMD @pedsGI_Japan @PedsGIChat @pedsgidoctora @pedsIBDdoc @PedsMamaDoc @SamPaglinco @NASPGHAN @rafeeq_rm 10/ #Monogenic #VEOIBD
💎#HSCT is potentially curative!📸👇CHOP data & IL-10RA deficiency cohort
💎 Indications:
✅ IL-10/IL-10R deficiency (landmark)
✅ XIAP, FOXP3 (IPEX), CGD, DOCK8, RAG1/2, SCID and other
🚨💎 For select patients, it's not a last resort — it is THE therapy
@MondayNightIBD @ericbenchimol @DrChrisMoran @ibdtweets @MRegueiroMD @ibdgijami @BenClickMD @Siyan_Cao @SuhaAbushamma @DrJordanAxelrad @IBD_DrEMF @Gastro4Kids @BenjamminGold @DrRosenIBD @jlightdale @raghu_vikram @JenniferLeeLee1 @GutMD_ @sabpeds @JonathanMoses77 @johnmrosen @dr_rdvenkatesh @PLLU @vaibhav_manu @malloc_doc @hilarykmichel @JKurowskiMD @pedsGI_Japan @PedsGIChat @pedsgidoctora @pedsIBDdoc 9/#Monogenic #VEOIBD management
💎 Genetic mutation guides targeted therapy, identify CI to drugs
✅ Abatacept for CTLA4/LRBA deficiency
✅ Anti-IL18 for NLRC4
✅ Rapamycin for FOXP3/PIK3CD before HSCT
✅ Hematopoietic stem cell transplant
🚨💎Critical: AVOID TNFi in CGD
This is largest international cohort of #monogenic #lupus so far (100 children, multi-country).
Early onset (median aprox. 2 years), high consanguinity, and significant disease burden.
C1Q and DNASE1L3 accounted for 50% of cases, with clear genotype–phenotype separation:
- C1Q: more neuro + recurrent infections
- DNASE1L3: milder course
Clinical picture is broad, but mucocutaneous, MSK, and neuro involvement dominate.
Infections were common (aprox. 36%) and not trivial.
Mortality reached 16%..!!
#SLE
Glad to share this work on #monogenic #lupus , and grateful to work with KFSHRC staff Prof. Sulaiman Al-Mayouf and Dr. AlSaleem
Most of these patients had long journeys with frequent immunosuppressive therapies..
variable but meaningful responses were observed after starting #baricitinib
Rationale of nephrologist-led #genomic testing strategy for #monogenic #glomerular Diseases in Singapore
@torra_roser @IPNA_PedNeph @ISNkidneycare @ISNeducation @drjosflynn @rupeshrainamd @sidsdoc @johnasayer @Gawad_Nephro @AmrElhusseini1 @Nihal_Hamary
https://t.co/f7sHRVeIbJ
Day 2 #ENDO2025 done right!
>Presented our data on #monogenic cohort of #syndromicobesity ✔️
>Street food during the break ✔️
>connected with old friends, made new friends ✔️
>Rounded off the evening with a great symposium on acromegaly by @MariaFleseriu ✔️
Characterization of #Monogenic Kidney Disease in #Older Patients With #CKD
#VisualAbstract by @krithicism
https://t.co/XG4MlCTls0
@EAE_Elhassan @PeterConlon5 @RCSI_StAR_MD @RCSI_Irl @Beaumont_Dublin @IrishNephSoc @mattgriffinneph @TonyBleyerMD @wakeforestmed @1LFUK1
Is #lupus all in your genes 🧬?
#SLE is not #monogenic
‘Take with grain of salt’ for monogenetic SLE’ we heard at
👇
Year in Review #LUPUS2025
Genetics are an orchestra and
1 mutation in genome is but a single instrument
@RheumNow
The maximum not unusual place styles of diabetes, kind one and kind2
#diabetes #DiabetesSupport #diabetesmanagement #diabetescare #diabetesawareness #DiabetesTipo2 #healthtips #healthyfood #health #healthyhabits #healthylifestyle #healthyliving #monogenic
https://t.co/tMfZIURH9k
.@James_Ridgeway_ DSN & @EDEN_Leicester Educator shares with #DiabetesChat information about the different types of Diabetes 💙
#T1D #T2D #Type3c #Gestational #Monogenic #NeonatalDiabetesMellitus #MODY #LADA #SteroidInducedDiabetes #CysticFibrosis
📺 https://t.co/sDiu9BhEWw
Genetic pathways explain why some people grow tall and others stay short 🧬📏🔍 #Genetics #Height #Growth #GWAS #Polygenic #Monogenic #Epigenetics #Endocrinology #BoneHealth #HumanBiology @NatureRevGenet
#Setmelanotide in patients aged 2–5 years with rare #MC4R pathway-associated #obesity (VENTURE): a 1 year, open-label, multicenter, phase 3 trial https://t.co/BipoEm0zj9
#monogenic obesity
#Bardet-Biedl syndrome
#hyperphagia
#Frontiers24 @StMarksHospital when should adult GI think of #Monogenic #IBD
✅Peak age 10-15
✅Require more sx & hematopoietic stem cell transplant
✅Severe fistulizing dis
✅⬆️ Infections
Exemples:
XIAP deficiency
Hermansky-Pudlak syndrome (can present > age 18)
More👇🏽
Also read the Linked Comment by Christian L Roth:
#Setmelanotide for the treatment of severe early-#childhood #genetic #obesity https://t.co/ApYyZheNGD
#hyperphagia #monogenic #obesity #Bardet-Biedl syndrome
Online—Setmelanotide in patients aged 2–5 years with rare MC4R pathway-associated obesity (VENTURE): a 1 year, open-label, multicenter, phase 3 trial https://t.co/BipoEm01tB
#setmelanotide #hyperphagia #monogenic #obesity #Bardet-Biedl syndrome
This study supports the use of setmelanotide for the treatment of hunger and early-onset, severe #obesity in #paediatric patients with rare #MC4R pathway-associated obesity https://t.co/BipoEm01tB
#setmelanotide #hyperphagia #monogenic #obesity
#Bardet-Biedl syndrome
New—Setmelanotide in patients aged 2–5 years with rare MC4R pathway-associated #obesity (VENTURE): a 1 year, open-label, multicenter, phase 3 trial https://t.co/BipoEm01tB
#setmelanotide #hyperphagia #monogenic #obesity #Bardet-Biedl syndrome
🇨🇳
👉Accurate prenatal diagnosis of #FSHD 1 using nanopore sequencing
💡#Nanopore sequencing proves to be an accurate and direct method for #genetic #testing of #monogenic #diseases
📰https://t.co/eXuEobhMBL
@fshd_china
Wanna #Learn about #Monogenic Diabetes, show up in #Berlin Hall
@EASDnews @EASDelearning
#EASD2024 #EASD #Madrid #Spain
Rapid Revision Topics in MD/DNB General Medicine - Monogenic Diabetes by Dr.Gowrishakar on RAAONLINE App.
Android: https://t.co/fSlaHVoEbl
IOS: https://t.co/oJAMS4dkMC
Contact: +91-9994994266
#rapidrevision #lectureupdate #diabetes #cns #infections #monogenic
Last Seen Hashtags on Sotwe
Most Popular Users
Elon Musk 
@elonmusk
240.8M followers
Barack Obama
@barackobama
119.2M followers
Donald J. Trump
@realdonaldtrump
111.7M followers
Cristiano Ronaldo
@cristiano
111.1M followers
Narendra Modi
@narendramodi
107M followers
Rihanna
@rihanna
97.8M followers
NASA
@nasa
92.2M followers
Justin Bieber
@justinbieber
91M followers
KATY PERRY
@katyperry
87.9M followers
Taylor Swift
@taylorswift13
81.8M followers
Lady Gaga
@ladygaga
73.3M followers
Virat Kohli
@imvkohli
70.3M followers
Kim Kardashian
@kimkardashian
69.9M followers
YouTube
@youtube
68.7M followers
Bill Gates
@billgates
64M followers
Neymar Jr
@neymarjr
63.1M followers
The Ellen Show
@theellenshow
62.4M followers
CNN
@cnn
61.9M followers
Selena Gomez
@selenagomez
61M followers
X
@x
60.8M followers