Maggie P. Fu
A5009504583- Epigenetics and DNA Methylation
- Immune Cell Function and Interaction
- Signaling Pathways in Disease
- Genetic Syndromes and Imprinting
- T-cell and B-cell Immunology
- Erythrocyte Function and Pathophysiology
- Immunodeficiency and Autoimmune Disorders
- Peptidase Inhibition and Analysis
- Genetics and Neurodevelopmental Disorders
- Single-cell and spatial transcriptomics
- NF-κB Signaling Pathways
- IL-33, ST2, and ILC Pathways
- Health, Environment, Cognitive Aging
- Emergency and Acute Care Studies
- Asthma and respiratory diseases
- RNA modifications and cancer
- Family Support in Illness
- Genetic Associations and Epidemiology
- Heart Failure Treatment and Management
- Neuroendocrine regulation and behavior
- Cardiac Structural Anomalies and Repair
- Cardiac Arrest and Resuscitation
University of British Columbia
2021-2025
Pacific Centre for Reproductive Medicine
2021-2025
Genome British Columbia
2022-2025
British Columbia Children's Hospital
2021-2025
STAT6 (signal transducer and activator of transcription 6) is a factor that plays central role in the pathophysiology allergic inflammation. We have identified 16 patients from 10 families spanning three continents with profound phenotype early-life onset immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia esosinophilic gastrointestinal disease, asthma, elevated serum IgE, IgE-mediated food allergies, anaphylaxis. The cases were either sporadic (seven...
Attachment is a motivational system promoting felt security to caregiver resulting in persistent internal working model of interpersonal behavior. styles are developed early social environments and predict future health development outcomes with potential biological signatures, such as epigenetic modifications like DNA methylation (DNAm). Thus, we hypothesized infant DNAm would associate toddler attachment styles. An epigenome-wide association study (EWAS) blood from 3-month-old infants was...
Abstract Prospective birth cohorts offer the potential to interrogate relation between early life environment and embedded biological processes such as DNA methylation (DNAme). These association studies are frequently conducted in context of blood, a heterogeneous tissue composed diverse cell types. Accounting for this cellular heterogeneity across samples is essential, it main contributor inter-individual DNAme variation. Integrated blood deconvolution pediatric longitudinal poses major...
Abstract Monogenic defects that impair the control of inflammation and tolerance lead to profound immune dysregulation, including autoimmunity atopy. Studying these disorders reveals important molecular cellular factors regulate human homeostasis identifies potential precision medicine targets. Here, we provide a detailed immunological assessment pediatric patient with recently discovered syndrome causing Immunodysregulation, Craniofacial anomalies, Hearing impairment, Athelia, Developmental...
Abstract DNA methylation (DNAme) is the most commonly studied epigenetic mark in human populations. DNAme has gained attention Developmental Origins of Health and Disease field due to its gene expression regulation potential long-term stability. Genetic variation environmental exposures are amongst main factors influencing inter-individual variability. However, proportion genomic distribution their individual, additive interactive effects on methylome remains unclear. Here, we introduce...
ABSTRACT Discovery of humans with monogenic disorders has a rich history generating new insights into biology. Here we report the first human identified complete deficiency nuclear factor activated T cells 1 (NFAT1). NFAT1, encoded by NFATC2 , mediates calcium-calcineurin signals that drive cell activation, proliferation, and survival. The patient is homozygous for damaging germline variant (c.2023_2026delTACC; p.Tyr675Thrfs*18) presented joint contractures, osteochondromas, B lymphoma....
Abstract Monogenic defects that impair the control of inflammation and tolerance lead to profound immune dysregulation, including autoimmunity atopy. Studying these disorders reveals important molecular cellular factors regulate human homeostasis identifies potential precision medicine targets. Here, we provide a detailed immunological assessment pediatric patient with recently discovered syndrome causing Immunodysregulation, Craniofacial anomalies, Hearing impairment, Athelia, Developmental...
ABSTRACT Inborn errors of immunity (IEI) are a group disorders caused by deleterious variants in immune-related genes, including some that function as epigenetic regulators. Additional sex combs-like 1 (ASXL1) is an modifier has not previously been linked to IEI. Somatic ASXL1 found clonal hematopoiesis and hematologic neoplasms, while heterozygous germline cause Bohring–Opitz syndrome. We present new IEI biallelic . The patient had complex unusual history disease progression notable for...