Steven Zhao

1.9K posts

Steven Zhao

Steven Zhao

@SteZhao

Katılım Kasım 2014
782 Takip Edilen770 Takipçiler
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Marios Georgakis
Marios Georgakis@MariosGeorgakis·
A great new resource for phenome-wide genetic explorations by the Estonian Biobank🇪🇪🧬 👉206,159 participants 👉GWASs for 4,884 ICD-10 diagnoses 👉2,127 unique GWAS loci 👉778 putatively novel locus-phenotype associations
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Marios Georgakis
Marios Georgakis@MariosGeorgakis·
A GWAS meta-analysis for sarcoidosis in 9,755 cases and 1,526,867 controls🧬 In diseases like sarcoidosis, where we know little about etiology, GWAS can be much more interesting, as they provide pathogenesis insights with potential for informing therapeutic strategies
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Steven Zhao
Steven Zhao@SteZhao·
This study compares #apremilast and #methotrexate (that have more similar efficacy for cutaneous psoriasis) to see if targeted therapy reduces PsA risk independent of skin control.
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Steven Zhao
Steven Zhao@SteZhao·
However, a key limitation is that IL-17/-23 inhibitors have superior efficacy for controlling cutaneous disease, the severity of which is an independent risk factor for PsA onset.
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Steven Zhao retweetledi
Marios Georgakis
Marios Georgakis@MariosGeorgakis·
Mendelian randomization (MR) has been criticized due to a flood of papers based on the output of a single R command. But MR can offer valuable insights into disease etiology and can be really fun Some interesting MR applications in examples from our work over the years 🧵 1/17
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Steven Zhao
Steven Zhao@SteZhao·
@doctorveera To me, this should reassure all the folks worried about therapeutic TNF inhibition causing cancer
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Veera Rajagopal 
Veera Rajagopal @doctorveera·
Remarkable discovery of two human knockouts for Tumor Necrosis Factor alpha (TNF α) gene, who were found to be surprisingly healthy except for specific susceptibility to recurrent pulmonary tuberculosis infection. One aspect of this discovery that stands out for me is its therapeutic relevance. Infliximab is a TNF α monoclonal antibody, developed in the early 1990s, and approved for the treatment of Crohn's disease and rheumatoid arthritis in the late 1990s. In the phase III trial published in Lancet in 1999, the authors reported that one of the participants developed disseminated treatment-resistant tuberculosis and died. That was the first clue into possible links between TNF α deficiency and TB susceptibility in humans (thelancet.com/journals/lance…). There was a follow-up study of a larger trial data published two years later in NEJM that confirmed that indeed one of the rare adverse effects of infliximab is tuberculosis risk, and the report recommended physicians to screen patients for latent tuberculosis infection before initiating infliximab therapy. (nejm.org/doi/full/10.10…). More than 20 years later, now scientists are encountering humans naturally lacking TNF α and provide genetic evidence that TNF α deficiency indeed increase the risk for TB. But the most important thing is the authors also show that TNF α deficiency is not that dangerous as one might expect from animal studies. Except for the TB infection, the patients seem to be healthy. How amazing is that? This is another great example of how rare disease patients can inform drug development. Arias et al. Nature nature.com/articles/s4158…
Veera Rajagopal  tweet mediaVeera Rajagopal  tweet media
Stephanie_Boisson-Dupuis@BoissonDupuis

1/ We are delighted to share our work published in @Nature today characterizing two patients with inherited complete TNF deficiency and recurrent tuberculosis (nature.com/articles/s4158…).

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BSR
BSR@RheumatologyUK·
BSR guidelines on biologic DMARDs will guide clinicians to provide the safest, most effective care for inflammatory arthritis. BSR members, please help us shape recommendations that meet today’s challenges by sharing your feedback here: bit.ly/4freinW
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