A5046213470- CRISPR and Genetic Engineering
- RNA Interference and Gene Delivery
- Vascular Malformations and Hemangiomas
- Virus-based gene therapy research
- Tumors and Oncological Cases
- Trauma and Emergency Care Studies
- Cancer and Skin Lesions
- Prenatal Screening and Diagnostics
- Lipid metabolism and disorders
- Genetic and rare skin diseases.
- Hospital Admissions and Outcomes
- Kidney Stones and Urolithiasis Treatments
- RNA regulation and disease
- Reproductive System and Pregnancy
- Neonatal Respiratory Health Research
- Birth, Development, and Health
- Growth Hormone and Insulin-like Growth Factors
- Ureteral procedures and complications
- Vascular Tumors and Angiosarcomas
- COVID-19 Impact on Reproduction
- Emergency and Acute Care Studies
- Congenital Diaphragmatic Hernia Studies
- Xenotransplantation and immune response
- Cardiac tumors and thrombi
- CNS Lymphoma Diagnosis and Treatment
University of Pennsylvania
2020-2024
Children's Hospital of Philadelphia
2022-2024
Hospital of the University of Pennsylvania
2020-2024
Yale University
2014-2022
University of Pennsylvania Health System
2022
Boston Children's Hospital
2012-2018
Boston Children's Museum
2013
Harvard University
2012-2013
Howard Hughes Medical Institute
2013
Women & Infants Hospital of Rhode Island
2010
Genetic diseases can be diagnosed early during pregnancy, but many monogenic disorders continue to cause considerable neonatal and pediatric morbidity mortality. Early intervention through intrauterine gene editing, however, could correct the genetic defect, potentially allowing for normal organ development, functional disease improvement, or cure. Here we demonstrate safe intravenous intra-amniotic administration of polymeric nanoparticles fetal mouse tissues at selected gestational ages...
Delivery of mRNA-based therapeutics to the perinatal brain holds great potential in treating congenital diseases. However, nonviral delivery platforms that facilitate nucleic acid this environment have yet be rigorously studied. Here, we screen a diverse library ionizable lipid nanoparticles (LNPs) via intracerebroventricular (ICV) injection both fetal and neonatal mice identify an LNP formulation with greater functional mRNA than FDA-approved industry standard LNP. Following vitro...
Monogenic blood diseases are among the most common genetic disorders worldwide. These result in significant pediatric and adult morbidity, some can death prior to birth. Novel ex vivo hematopoietic stem cell (HSC) gene editing therapies hold tremendous promise alter therapeutic landscape but not without potential limitations. In offer a potentially safer more accessible treatment for these hindered by lack of delivery vectors targeting HSCs, which reside difficult-to-access bone marrow...
Facial infiltrating lipomatosis is a nonheritable disorder characterized by hemifacial soft-tissue and skeletal overgrowth, precocious dental development, macrodontia, hemimacroglossia, mucosal neuromas. The authors tested the hypothesis that this condition caused somatic mutation in phosphatidylinositide-3 kinase (PI3K) signaling pathway, which has been indicted other anomalies with overgrowth.The extracted DNA from abnormal tissue six individuals, generated sequencing libraries, enriched...
This cohort study compares the outcomes of open colectomy with ureteral stenting without stenting.
In utero gene editing (IUGE) is a potential treatment for inherited diseases that cause pathology before or soon after birth. Preexisting immunity to adeno-associated virus (AAV) vectors and Cas9 endonuclease may limit postnatal editing. The tolerogenic fetal immune system minimizes barrier IUGE. However, the ability of maternal remains question. We investigated whether preexisting AAV impairs Using combination fluorescent reporter mice murine model metabolic liver disease, we demonstrated...
In utero gene editing has the potential to modify disease causing genes in multiple developing tissues before birth, possibly allowing for normal organ development, improvement, and conceivably, cure. cystic fibrosis (CF), a that arises from mutations transmembrane conductance regulator (
The study of muscle mass as an imaging-derived phenotype (IDP) may yield new insights into determining the normal and pathologic variations in population. This can be done by 3D abdominal from 12 distinct regions groups using computed tomography (CT) a racially diverse medical biobank. To develop fully automatic technique for assessment CT IDPs preliminarily determine IDP with age sex clinically retrospective was conducted Penn Medicine BioBank (PMBB), research protocol that recruits adult...
Background Advances in Molecular Therapy have made gene editing through systemic or topical administration of reagents a feasible strategy to treat genetic diseases rational manner. Encapsulation therapeutic agents nanoparticles can improve intracellular delivery agents, provided that the are efficiently taken up within target cells. In prior work we had established proof-of-principle carrying mediate site-specific fetal and adult animals vivo results functional disease improvement rodent...
Background The coronavirus disease 2019 (COVID-19) pandemic significantly reduced elective surgery in the United States, but impact of COVID-19 on acute surgical complaints and care is unknown. Study design A retrospective review was performed all consults at Hospital University Pennsylvania 30 days prior to following confirmation first patient institution. Consults divisions within general were included. Results Total consult volume decreased by 43% post-COVID-19 period, with a significant...
Recent work has questioned the accuracy of Injury Severity Score (ISS) and Abbreviated Scale (AIS) in pediatric population. We sought to determine mortality rates trauma patients at ISSs considered "severe" adults whether would vary substantially between children sustaining injuries with same AIS.Univariate logistic regression was used generate associated ISS scores, for (<16 years age) adults, using 2016 National Trauma Data Bank. Mortality an 15 were calculated both groups. similarly...
INTRODUCTION: Facial infiltrating lipomatosis (FIL) is a rare, congenital, non-heritable, disorder characterized by hemifacial soft-tissue and skeletal overgrowth, precocious dental development, macrodontia, hemimacroglossia, mucosal neuromas. It has been hypothesized that FIL caused somatic mutation, with regional expression, arose during embryonic development. The purpose of this study was to search for causative mutations in patients using massively parallel sequencing. METHODS: Human...