News & Events: Treating Genetic Disease Before Birth

"This group of vulnerable patients has been relatively ignored in the fetal surgery world," said UCSF's Tippi MacKenzie, MD, senior author of the new study and member of the Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, who has worked for a decade developing novel therapies for heritable diseases that can be treated before birth. "We know these patients could potentially benefit from a number of medical therapies. So this is our first foray into treating one of those diseases."

UCSF News reports on the first patient enrolled in the world's first clinical trial using blood stem cells transplanted prior to birth. The stem cell transplant was used to treat alpha thalassemia major, a blood disorder that is only detected in the last few months of pregnancy and has been almost uniformly fatal in the past. The clinical trial is led by Tippi MacKenzie, MD, an associate professor in the UCSF Division of Pediatric Surgery and co-Director of the UCSF Center for Maternal-Fetal Precision Medicine. The study is funded by a $12.1M grant from the California Institute for [...]

Pediatric Surgeon Tippi MacKenzie, MD was awarded $12.1 million by the California Institute for Regenerative Medicine (CIRM) to treat fetuses in the womb suffering from alpha thalassemia major, a blood disorder that is only detected in the last few months of pregnancy and is almost uniformly fatal.  Dr. MacKenzie, an associate professor in the UCSF Division of Pediatric Surgery and co-Director of the UCSF Center for Maternal-Fetal Precision Medicine, is using hematopoietic stem cells (HSCs), taken from the mother's bone marrow, and transplanting them into the fetus before birth. The fetus's [...]

UCSF News reports on fetal stem cell transplantation, taking healthy cells from the bone marrow of a donor, and transplanting them into the fetus through ultrasound-guided injections with the goal of having the implanted cells, or graft, replenish the patient's supply of healthy blood-forming cells. UCSF researchers have tackled a decade-long scientific conundrum, and their discovery is expected to lead to significant advances in using stem cells to treat genetic diseases before birth. Through a series of mouse model experiments, the research team determined that a mother's immune response [...]

As a gifted pianist in high school, Assistant Professor of Surgery Tippi MacKenzie, MD, spent every Saturday studying music at Juilliard. This musical training was good preparation for her current work as a researcher and surgeon.   "When you're playing the piano, you work out the details in a dif cult passage until it's perfect," she said. "It's the same with science. If there's an issue with your experiment, you can't just sweep it under the rug. you tackle that problem." With a smile, she added, "The technical ne motor skills also come in handy as a surgeon."   Now a fetal and [...]