"What keeps me coming back to work every day is a desire to do better."
Where I see patients (2)
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.
Selected research
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Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice.
Molecular therapy : the journal of the American Society of Gene Therapy
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Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.
Prenatal diagnosis
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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
American journal of human genetics
Clinical trials
Registry of Patients Diagnosed With Lysosomal Storage Diseases
Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.
Recruiting
More about this study
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
More about this studyContact me
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