Publications by authors named "P Grayson"
Article Synopsis
- * The huR83C mouse model replicates the disease phenotype and has been used to test the effectiveness of BEAM-301, a treatment that utilizes lipid nanoparticles and adenine base editing to correct the harmful G6PC1-R83C variant.
- * BEAM-301 has shown the ability to correct about 60% of the variant in liver cells, restore blood sugar control, improve overall health, and increase survival rates in mice, indicating its potential as a therapeutic option for patients with this specific genetic mutation
Disease-monitoring in large vessel vasculitis (LVV) is challenging. Simultaneous F-fluorodeoxyglucose positron emission tomography with magnetic resonance imaging (PET/MRI) provides functional assessment of vascular inflammation alongside high-definition structural imaging with a relatively low burden of radiation exposure. Here, we investigate the ability of PET/MRI to monitor LVV disease activity longitudinally in a prospective cohort of patients with active LVV.
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- VEXAS syndrome is a genetic disorder that causes bone marrow failure and systemic inflammation, which can lead to a higher risk of infections for affected patients.
- In a study of 94 patients with VEXAS, 6% developed pneumonia (PJP), 15% experienced reactivation of the alphaherpesvirus, and 10% had non-tuberculous mycobacterial infections.
- The research found that developing PJP or NTM significantly increases the risk of death, while prophylactic treatments for these infections were shown to be highly effective in reducing infection rates.
Article Synopsis
- VEXAS syndrome is a genetic disease primarily affecting older men, characterized by systemic inflammation, bone marrow failure, and skin issues, with an estimated prevalence of 1 in 4269 men over 50.
- A study of 112 patients revealed that 83% experienced skin involvement, making it a common symptom, with various histopathologic findings indicating conditions like leukocytoclastic vasculitis and neutrophilic dermatosis.
- Specific genetic variants were linked to different skin manifestations; treatment with oral prednisone was effective in improving skin symptoms for a majority of patients.
Increasing rates of autoimmune and inflammatory disease present a burgeoning threat to human health. This is compounded by the limited efficacy of available treatments and high failure rates during drug development, highlighting an urgent need to better understand disease mechanisms. Here we show how functional genomics could address this challenge.
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