A5059922541- Mitochondrial Function and Pathology
- Cancer therapeutics and mechanisms
- ATP Synthase and ATPases Research
- interferon and immune responses
- Cytokine Signaling Pathways and Interactions
- Long-Term Effects of COVID-19
- COVID-19 and healthcare impacts
- RNA modifications and cancer
- Health Systems, Economic Evaluations, Quality of Life
- Inflammasome and immune disorders
- Immunodeficiency and Autoimmune Disorders
- COVID-19 and Mental Health
- Global Health Care Issues
- Complement system in diseases
- COVID-19 Clinical Research Studies
- Health and Medical Research Impacts
- SARS-CoV-2 and COVID-19 Research
Royal Free London NHS Foundation Trust
2023
The Royal Free Hospital
2023
National Health Service
2023
University College London
2023
University of Calgary
2022-2023
University of British Columbia
2022
Patients with antibody deficiency respond poorly to coronavirus disease 2019 (COVID-19) vaccination and are at risk of severe or prolonged infection. They given long-term immunoglobulin replacement therapy (IRT) prepared from healthy donor plasma confer passive immunity against Following widespread COVID-19 alongside natural exposure, we hypothesized that preparations will now contain neutralizing acute respiratory syndrome 2 (SARS-CoV-2) spike antibodies, which protection may help treat chronic
Abstract The recognition that cytosolic mitochondrial DNA (mtDNA) activates cyclic GMP–AMP synthase-stimulator of interferon genes (cGAS-STING) innate immune signaling has unlocked novel disease mechanisms. Here, an uncharacterized variant predicted to affect TOP1MT function, P193L, was discovered in a family with multiple early onset autoimmune diseases, including Systemic Lupus Erythematosus (SLE). Although there no previous genetic association between and disease, the role as regulator...
TOP1MT encodes a mitochondrial topoisomerase that is important for mtDNA regulation and involved in replication, transcription, translation. Two variants predicted to affect function (V1 - R198C V2 V338L) were identified by exome sequencing of newborn with hypertrophic cardiomyopathy. As no pathogenic had been confirmed previously, we characterized these their ability rescue several functions KO cells. Consistent contributing the patient phenotype, our comprehensive characterization suggests...
The COVID-19 pandemic has impacted on how health services deliver care and the mental of population. Due to their clinical vulnerability, reduce in-hospital attendances during pandemic, modifications in immunoglobulin treatment regimens were made for patients with antibody deficiency. These also likely experience social isolation due shielding measure that advised. We aimed investigate impact modifying regimen infection burden restrictions.Patients replacement therapy (IGRT) responded a...
The recognition that cytosolic mtDNA activates cGAS-STING innate immune signaling has unlocked novel disease mechanisms. Here, an uncharacterized variant predicted to affect TOP1MT function, P193L, was discovered in a family with multiple early-onset autoimmune diseases, including Systemic Lupus Erythematosus (SLE). Although there no previous genetic association between and disease, the role of as regulator led us investigate whether could mediate release cytosol, where it then activate...
STEM Fellowship’s Inter-University Big Data Challenge is a unique inquiry and experiential learning program that provides university students worldwide an opportunity to apply computational thinking in search of national, regional, community, individual health solutions. It new form R&D talent development identification through science scholarly communication demonstrated by students. As part the program, participants were offered broad range workshops data analytics, programming,...
Abstract TOP1MT encodes a mitochondrial topoisomerase that is important for mtDNA regulation, and involved in replication, transcription translation. Two variants predicted to affect function (V1 - R198C V2 V338L) were identified by exome sequencing of newborn with hypertrophic cardiomyopathy. As no pathogenic had been confirmed previously, we characterized these their ability rescue several functions knockout cells. Consistent contributing the patient phenotype, comprehensive...