Biography
Videos
Education
Institution | Degree | Dept or School | End Date |
---|---|---|---|
Children's Hospital of Philadelphia | Fellow | Pediatric Surgery | 2007 |
Brigham and Women's Hospital | Chief Resident | Surgery | 2005 |
Brigham and Women's Hospital | Residency | Surgery | 2004 |
Children's Hospital of Philadelphia | Postdoctoral Studies | Fetal Therapy | 2002 |
Stanford University | M.D. | Medicine | 1997 |
Board Certifications
- American Board of Surgery, 2006
Clinical Expertise
Advanced Laparoscopy
Birth Defects
Endocrine and Biliary Surgery
Fetal Surgery
Pediatric Surgery
Clinical Trials
- Related Conditions: Mucopolysaccharidosis, Mucopolysaccharidosis Type I, Hunter Syndrome, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type VII, Pompe Disease, Gaucher Disease, Wolman Disease| Start Date: | End Date:
- Related Conditions: Alpha Thalassemia, Alpha Thalassemia Major, Beta Thalassemia| Start Date: | End Date:
- Related Conditions: Mucopolysaccharidosis, Mucopolysaccharidosis Type I, Hunter Syndrome, Mucopolysaccharidosis Type Iva, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type VII, Gaucher Disease, Pompe Disease, Wolman Disease| Start Date: | End Date:
- Related Conditions: Alpha Thalassemia, Alpha Thalassemia Major, Hemoglobinopathy, Anemia, Hydrops Fetalis, Bone Marrow Transplant, Hematopoietic Cell Transplantation, Stem Cell Transplant, Beta Thalassemia| Start Date: | End Date:
Program Affiliations
- Fetal Treatment Center
- Biomedical Sciences Program
- Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research
- Center for Maternal-Fetal Precision Medicine
In the News
Grants and Funding
- Phase 1 Study of In Utero Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases | NIH/NICHHD | 2022-09-20 - 2027-04-30 | Role: Principal Investigator
- Developing gene therapy strategies to treat alpha thalassemia | NIH/NHLBI | 2022-01-01 - 2025-12-31 | Role: Principal Investigator
- Autoimmune Regulator gene (Aire)-mediated tolerance to pregnancy-associated self-antigens | NIH | 2019-08-21 - 2024-07-31 | Role: Principal Investigator
- In utero hematopoietic stem cell transplantation for the treatment of fetuses with alpha thalassemia major (phase I clinical trial) | California Institute for Regenerative Medicine (CIRM) | 2017-08-01 - 2022-07-31 | Role: Principal Investigator
- A precision medicine approach to detect dysbiosis and immune activation in preterm labor | Burroughs Wellcome Fund Preterm Labor Initiative | 2017-07-01 - 2021-06-30 | Role: Principal Investigator
- T cell activation and the breakdown of maternal-fetal tolerance in preterm labor | NIH | 2015-06-15 - 2021-05-31 | Role: Principal Investigator
Research Narrative
Dr. MacKenzie has an active laboratory and is a member of the Biomedical Sciences Program and the Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research. Her research focus is on mechanisms of tolerance induction following in utero stem cell transplantation and the pathophysiology of prenatally diagnosed diseases, such as congenital diaphragmatic hernia and gastroschisis, to identify biomarkers that predict prognosis and molecular pathways that may be targets for prenatal intervention.
Research Interests
In-Utero Stem Cell Transplantation
Research Pathways
Publications
- In utero hematopoietic stem cell transplantation for Fanconi anemia.| | PubMed
- The Conundrum of Mechanics Versus Genetics in Congenital Hydrocephalus and Its Implications for Fetal Therapy Approaches: A Scoping Review.| | PubMed
- Dual α-globin and truncated EPO receptor knockin restores hemoglobin production in α-thalassemia-derived red blood cells.| | PubMed
- Prenatal AAV9-GFP administration in fetal lambs results in transduction of female germ cells and maternal exposure to virus.| | PubMed
- Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice.| | PubMed
- Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.| | PubMed
- Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.| | PubMed
- Are we prepared to deliver gene-targeted therapies for rare diseases?| | PubMed
- The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry.| | PubMed
- In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.| | PubMed
- Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy.| | PubMed
- Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI-FDA Meeting).| | PubMed
- Thymic and extrathymic Aire-expressing cells in maternal-fetal tolerance.| | PubMed
- Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.| | PubMed
- Consensus statement for the perinatal management of patients with α thalassemia major.| | PubMed
- Advances in the management of α-thalassemia major: reasons to be optimistic.| | PubMed
- Prenatal Gene Therapy.| | PubMed
- Maternal and Infant Immune Repertoire Sequencing Analysis Identifies Distinct Ig and TCR Development in Term and Preterm Infants.| | PubMed
- Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants.| | PubMed
- Extrathymic Aire-expressing cells support maternal-fetal tolerance.| | PubMed
- Forever Connected: The Lifelong Biological Consequences of Fetomaternal and Maternofetal Microchimerism.| | PubMed
- Fetal and Maternal Safety Considerations for In Utero Therapy Clinical Trials: iFeTiS Consensus Statement.| | PubMed
- Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.| | PubMed
- Detection of microbial cell-free DNA in maternal and umbilical cord plasma in patients with chorioamnionitis using next generation sequencing.| | PubMed
- Tolerance induction and microglial engraftment after fetal therapy without conditioning in mice with Mucopolysaccharidosis type VII.| | PubMed
- CD161 contributes to prenatal immune suppression of IFNγ-producing PLZF+ T cells.| | PubMed
- In Utero Gene Therapy Consensus Statement from the IFeTIS.| | PubMed
- Evaluation of Clinical Outcomes of Sutureless vs Sutured Closure Techniques in Gastroschisis Repair.| | PubMed
- Depletion of murine fetal hematopoietic stem cells with c-Kit receptor and CD47 blockade improves neonatal engraftment.| | PubMed
- Large Differences in Small RNA Composition Between Human Biofluids.| | PubMed
- Future AAVenues for In Utero Gene Therapy.| | PubMed
- Meta-Analysis of Maternal and Fetal Transcriptomic Data Elucidates the Role of Adaptive and Innate Immunity in Preterm Birth.| | PubMed
- Alloreactive fetal T cells promote uterine contractility in preterm labor via IFN-γ and TNF-α.| | PubMed
- Systemic multilineage engraftment in mice after in utero transplantation with human hematopoietic stem cells.| | PubMed
- Esophagoesophagopexy technique for assisted fistulization of esophageal atresia.| | PubMed
- Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter?| | PubMed
- Sacrococcygeal teratoma: late recurrence warrants long-term surveillance.| | PubMed
- Fetal stem cell and gene therapy.| | PubMed
- Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis-Insights from a Population-Based Dataset.| | PubMed
- Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature.| | PubMed
- A Transient Developmental Hematopoietic Stem Cell Gives Rise to Innate-like B and T Cells.| | PubMed
- Magnetic resonance imaging of Müllerian duct anomalies in children.| | PubMed
- Heightened Immune Activation in Fetuses with Gastroschisis May Be Blocked by Targeting IL-5.| | PubMed
- Mass Effect Alone May Not Explain Pulmonary Vascular Pathology in Severe Congenital Diaphragmatic Hernia.| | PubMed
- Fetal Surgical conditions and the unraveling of maternal-fetal tolerance.| | PubMed
- A booster shot to cure hemoglobinopathies.| | PubMed
- Maternal factors associated with the occurrence of gastroschisis.| | PubMed
- Increased maternal T cell microchimerism in the allogeneic fetus during LPS-induced preterm labor in mice.| | PubMed
- Consensus statement from the first international conference for in utero stem cell transplantation and gene therapy.| | PubMed
- In utero hematopoietic cell transplantation for hemoglobinopathies.| | PubMed
- Placental drug delivery for treatment of congenital hematopoietic disorders.| | PubMed
- The many faces of hydrops.| | PubMed
- Novel non-surgical prenatal approaches to treating congenital diaphragmatic hernia.| | PubMed
- Favorable outcomes in high-risk congenital pulmonary airway malformations treated with multiple courses of maternal betamethasone.| | PubMed
- Maternal-fetal cellular trafficking: clinical implications and consequences.| | PubMed
- In utero depletion of fetal hematopoietic stem cells improves engraftment after neonatal transplantation in mice.| | PubMed
- Memory regulatory T cells reside in human skin.| | PubMed
- Outcomes of fetal intervention for primary hydrothorax.| | PubMed
- Fetal intervention increases maternal T cell awareness of the foreign conceptus and can lead to immune-mediated fetal demise.| | PubMed
- Anal duplication in a one-year-old girl.| | PubMed
- Fetal production of growth factors and inflammatory mediators predicts pulmonary hypertension in congenital diaphragmatic hernia.| | PubMed
- Direct and indirect antigen presentation lead to deletion of donor-specific T cells after in utero hematopoietic cell transplantation in mice.| | PubMed
- Clinical implications of maternal-fetal cellular trafficking.| | PubMed
- Hepatic portocholecystostomy for biliary atresia: a 25-year follow-up and review.| | PubMed
- Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin.| | PubMed
- The diagnosis and management of intradiaphragmatic extralobar pulmonary sequestrations: a report of 4 cases.| | PubMed
- Increased maternal microchimerism after open fetal surgery.| | PubMed
- Alterations in maternal-fetal cellular trafficking after fetal surgery.| | PubMed
- Long-term outcomes after fetal therapy for congenital high airway obstructive syndrome.| | PubMed
- In utero hematopoietic cell transplantation for the treatment of congenital anomalies.| | PubMed
- Maternal microchimerism in patients with biliary atresia: Implications for allograft tolerance.| | PubMed
- Decreased risk of graft failure with maternal liver transplantation in patients with biliary atresia.| | PubMed
- Pancreatic mesenchyme regulates epithelial organogenesis throughout development.| | PubMed
- The maternal immune response inhibits the success of in utero hematopoietic cell transplantation.| | PubMed
- A mouse model of in utero transplantation.| | PubMed
- Maternal T cells limit engraftment after in utero hematopoietic cell transplantation in mice.| | PubMed
- Image of the month--quiz case. Gastric duplication cyst.| | PubMed
- Long-term surgical outcomes in congenital diaphragmatic hernia: observations from a single institution.| | PubMed
- Persistent expression of hF.IX After tolerance induction by in utero or neonatal administration of AAV-1-F.IX in hemophilia B mice.| | PubMed
- Impact of continuous intraoperative monitoring on outcomes in open fetal surgery.| | PubMed
- Transduction of satellite cells after prenatal intramuscular administration of lentiviral vectors.| | PubMed
- Long-term transgene expression in cardiac and skeletal muscle following fetal administration of adenoviral or adeno-associated viral vectors in mice.| | PubMed
- Efficient transduction of liver and muscle after in utero injection of lentiviral vectors with different pseudotypes.| | PubMed
- The ex-utero intrapartum treatment.| | PubMed
- Engraftment of bone marrow and fetal liver cells after in utero transplantation in MDX mice.| | PubMed
- The natural history of prenatally diagnosed conjoined twins.| | PubMed
- Human mesenchymal stem cells: insights from a surrogate in vivo assay system.| | PubMed
- Risk factors for intermediate-term survival after coronary artery bypass grafting.| | PubMed
- Large-volume paracentesis in the management of ascites in children.| | PubMed
- Survival after first esophageal variceal hemorrhage in patients with biliary atresia.| | PubMed
- The management of prenatally diagnosed choledochal cysts.| | PubMed
- A fetal lung lesion consisting of bronchogenic cyst, bronchopulmonary sequestration, and congenital cystic adenomatoid malformation: the missing link?| | PubMed
- Human mesenchymal stem cells persist, demonstrate site-specific multipotential differentiation, and are present in sites of wound healing and tissue regeneration after transplantation into fetal sheep.| | PubMed
- Heterogeneity of type I diabetes: analysis of monozygotic twins in Great Britain and the United States.| | PubMed
- The impact of the diabetes control and complications trial and humalog insulin on glycohemoglobin levels and severe hypoglycemia in type 1 diabetes.| | PubMed
- Multilineage differentiation of human MSC after in utero transplantation.| | PubMed
- Human mesenchymal stem cells engraft and demonstrate site-specific differentiation after in utero transplantation in sheep.| | PubMed
- Response to treatment as a predictor of longterm outcome in patients with lupus nephritis.| | PubMed
- The time-dependence of long-term prediction in lupus nephritis.| | PubMed
- Can experienced clinicians predict the outcome of lupus nephritis?| | PubMed
- Cerebrovascular deaths before and after the appearance of oral contraceptives.| | PubMed
- Systemic and renal hemodynamic consequences of manipulation of serum calcium and/or parathyroid hormone in the intact conscious mongrel dog.| | PubMed
- Hemoglobin A1 in renal transplant recipients.| | PubMed
- Effect of clonidine therapy on renal hemodynamics in renal transplant hypertension.| | PubMed