A5072627924- Prenatal Screening and Diagnostics
- Congenital Anomalies and Fetal Surgery
- Reproductive System and Pregnancy
- Congenital Diaphragmatic Hernia Studies
- Parvovirus B19 Infection Studies
- Neonatal Respiratory Health Research
- Virus-based gene therapy research
- Hemoglobinopathies and Related Disorders
- Pluripotent Stem Cells Research
- Hematopoietic Stem Cell Transplantation
- Lysosomal Storage Disorders Research
- Neurogenetic and Muscular Disorders Research
- Mesenchymal stem cell research
- Preterm Birth and Chorioamnionitis
- Pregnancy and preeclampsia studies
- Immune Cell Function and Interaction
- Tracheal and airway disorders
- CRISPR and Genetic Engineering
- Blood groups and transfusion
- Fetal and Pediatric Neurological Disorders
- Pregnancy and Medication Impact
- Assisted Reproductive Technology and Twin Pregnancy
- Organ and Tissue Transplantation Research
- MicroRNA in disease regulation
- T-cell and B-cell Immunology
University of California, San Francisco
2016-2025
Broad Center
2015-2025
UCSF Benioff Children's Hospital
2021-2024
University of Ottawa
1997-2023
University of Washington
2023
Duke University
2023
Children's Hospital of Eastern Ontario
2023
Ottawa Hospital
2023
Universidad Católica de Santa Fe
2015-2021
University of California, San Diego
2021
Regulatory T cells (Tregs), which are characterized by expression of the transcription factor Foxp3, a dynamic and heterogeneous population that control immune responses prevent autoimmunity. We recently identified subset Tregs in murine skin with properties typical memory defined this as (mTregs). Due to importance these regulating tissue inflammation mice, we analyzed cell humans found almost all normal had an activated phenotype. Compared mTregs peripheral blood, cutaneous unique surface...
Extracellular microRNAs (miRNAs) and other small RNAs are implicated in cellular communication may be useful as disease biomarkers. We systematically compared 12 human biofluid types using RNA sequencing (RNA-seq). miRNAs tRNA-derived (tDRs) accounted for the majority of mapped reads all biofluids, but ratio miRNA to tDR varied from 72 plasma 0.004 bile. levels were highly correlated across some differed markedly between biofluids. populations extensively Y fragments seen biofluids >10%...
The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal still emerging. Nonimmune hydrops fetalis (NIHF), a abnormality that often lethal, numerous causes; the extent to which exome can aid in unclear.We evaluated series 127 consecutive unexplained cases NIHF were defined by presence ascites, pleural or pericardial effusions, skin edema, cystic hygroma, increased nuchal translucency,...
The developing pancreatic epithelium gives rise to all endocrine and exocrine cells of the mature organ. During organogenesis, epithelial receive essential signals from overlying mesenchyme. Previous studies, focusing on ex vivo tissue explants or complete knockout mice, have identified an important role for mesenchyme in regulating expansion progenitor early pancreas epithelium. However, due lack genetic tools directing expression specifically mesenchyme, potential roles this supporting...
Transplantation of allogeneic stem cells into the early gestational fetus, a treatment termed in utero hematopoietic cell transplantation (IUHCTx), could potentially overcome limitations bone marrow transplants, including graft rejection and chronic immunosuppression required to prevent rejection. However, clinical use IUHCTx has been hampered by poor engraftment, possibly due host immune response against graft. Since fetal system is relatively immature, we hypothesized that maternal...
Human fetal T cell activation against maternal antigens could promote uterine contractions in preterm labor.
Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of utero enzyme-replacement (ERT) a fetus CRIM (cross-reactive immunologic material)-negative infantile-onset Pompe's disease. The family history was positive disease cardiomyopathy two previously affected deceased siblings. After receiving ERT standard postnatal therapy, current patient had normal cardiac...
Angelman syndrome (AS), an early-onset neurodevelopmental disorder characterized by abnormal gait, intellectual disabilities, and seizures, occurs when the maternal allele of UBE3A gene is disrupted, since paternal silenced in neurons antisense (UBE3A-AS) transcript. Given importance early treatment, we hypothesized that prenatal delivery oligonucleotide (ASO) would downregulate murine Ube3a-AS, resulting increased protein functional rescue. Using a mouse model with Ube3a-YFP reports...
The major complication associated with protein replacement therapy currently used in the treatment of hemophilia B (HB) is development antibodies to infused human Factor IX (hF.IX). We hypothesized that vector-mediated expression hF.IX, either at a prenatal stage or early life may lead tolerance hF.IX and long-term transgene expression. Fetal, neonatal, adult F.IX-deficient mice were injected AAV-1-hF.IX, levels as well circulation assayed. In utero injection followed by postnatal...
While the human fetal immune system defaults to a program of tolerance, there is concurrent need for protective immunity meet antigenic challenges encountered after birth. Activation T cells in utero associated with inflammatory response broad implications health fetus and pregnancy. However, characteristics effector that contribute this process are largely unknown.We analyzed primary lymphoid mucosal tissues performed phenotypic, functional, transcriptional analysis identify...
In this study we investigate the efficacy of lentiviral vectors different pseudotypes for gene transfer to tissues preimmune fetus. BALB/c fetuses at 14–15 days' gestation received carrying transgene lacZ under control human cytomegalovirus (CMV) promoter by intramuscular (i.m.) or intrahepatic (i.h.) injection. We pseudotyped with vesicular stomatitis virus (VSV-G), Mokola virus, Ebola envelope glycoproteins. harvested pups time points between 5 days and 9 months following injection...
We sought to identify age group specific maternal risk factors for gastroschisis. Maternal characteristics and prenatal were compared 1,279 live born infants with gastroschisis 3,069,678 without. Data obtained using the California database containing linked hospital discharge, birth certificate death records from 1 year prior after birth. Backwards-stepwise logistic regression models used where initial inclusion was determined by a threshold of p < 0.10 on crude analyses. Due strong...