"What keeps me coming back to work every day is a desire to do better."
Where I see patients (1)
Selected research
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Intra-amniotic antisense oligonucleotide treatment improves phenotypes in preclinical models of spinal muscular atrophy.
Science translational medicine
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In utero lipid nanoparticle delivery achieves robust editing in hematopoietic stem cells.
bioRxiv : the preprint server for biology
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Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.
American journal of medical genetics. Part C, Seminars in medical genetics
Clinical trials
International Registry of Patients With Alpha Thalassemia
Number of fetuses diagnosed with alpha thalassemia who survive to birth, compared to number of fetuses diagnosed with alpha thalassemia who have fetal demise or are terminated in utero. This is measured in number of fetuses alive ...
Recruiting
PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
Adverse and serious adverse events including, but not limited to, death within 24 hours after the procedure, stillbirth, death prior to initial hospital discharge,increased response with antibody development above that expected wi...
Recruiting
My work
Fetal therapy offers hope for treating genetic disorders
An experimental therapy helped a family that had already lost two babies to a rare disorder with critical guidance from Dr. MacKenzie.