Monday, December 9th, 2013
Fifteen-year-old Hayley Mogul and her 9-year-old sister both extremely rare genetic disorders–so rare, that a cure isn’t even being sought by scientists–that has had severe neurological and metabolic consequences for the sisters. But their participation in cutting edge research that combines stem cell and genetic techniques may give hope to future generations. NBC News reports:
There’s no cure for their rare disorders, caused by unique genetic mutations. But for once, there’s an advantage to having conditions so rare that drug companies cannot even think of looking for a cure. The sisters are taking part in a whole new kind of experiment in which scientists are literally turning back the clock on their cells.
They’re using an experimental technique to transform the cells into embryonic form, and then growing these baby cells in lab dishes.
The goal is the get the cells to misfire in the lab in just the same way they are in Hayley’s and Bari’s bodies. It’s a new marriage of genetics and stem cell research, and represents one of the most promising applications of so-called pluripotent stem cells.
“One day these two girls will probably change the face of medicine as we know it,” said their father, Steven Mogul.
Steven and Robyn Mogul don’t understand why both their daughters ended up with the rare mutations, which cause a range of neurological and metabolic problems.
“We have been tested,” said Mogul, a 45-year-old wealth manager living in Chicago. “We don’t have any mutations, and there are no developmental issues. We have no idea how it happened. “
The girls need special schooling and physical therapy. They must wear diapers, and when they get a cold or the flu, they can develop dangerously low blood sugar. “When the kids get sick, get colds or flu, we have to get them to the hospital,” Mogul said.
Hayley, 15, has a mutation in a gene called RAI1, which can cause Smith-Magenis syndrome. The syndrome affects 1 in 25,000 people and can disturb sleep patterns, cause obesity and behavioral issues. But Hayley’s mutation is unique and puzzling. Bari, 9, has an RAI1 mutation and a similarly unique mutation in the GRIN2B gene, which can cause learning disabilities.
“Bari doesn’t talk,” Mogul said. “She walks around, she gets around and lets you know what she wants. She is eating baby food and she is drinking from bottles.”
Hayley can attend school and can read, but lacks the fine motor skills needed to write. It’s especially unusual for two children in the same family to end up with such rare, and different, mutations.
Image: DNA, via Shutterstock
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Thursday, May 2nd, 2013
A 2-year-old girl who was born without a windpipe has a new chance at life, thanks to a new windpipe made from the girl’s own stem cells. PEOPLE.com has the story:
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Hannah Warren has been unable to breathe, eat, drink or swallow on her own since she was born in South Korea in 2010. Until the operation at a central Illinois hospital, she had spent her entire life in a hospital in Seoul. Doctors there told her parents there was no hope and they expected her to die.
The stem cells came from Hannah’s bone marrow, extracted with a special needle inserted into her hip bone. They were seeded in a lab onto a plastic scaffold, where it took less than a week for them to multiply and create a new windpipe.
About the size of a 3-inch tube of penne pasta, it was implanted April 9 in a nine-hour procedure.
Early signs indicate the windpipe is working, Hannah’s doctors announced Tuesday, although she is still on a ventilator. They believe she will eventually be able to live at home and lead a normal life.
“We feel like she’s reborn,” said Hannah’s father, Darryl Warren.
Monday, February 27th, 2012
Scientists at Massachusetts General Hospital have discovered a way to use ovarian stem cells to create human eggs, a finding that may offer new hope to women struggling with infertility. The New York Times reports:
Women are born with a complement of egg cells that must last throughout life. The ability to isolate stem cells from which eggs could be cultivated would help not only with fertility but also with biologists’ understanding of how drugs and nutrition affect the egg cells.
The new research, by a team led by the biologist Jonathan L. Tilly, depends on a special protein found to mark the surface of reproductive cells like eggs and sperm. Using a cell-sorting machine that can separate out the marked cells, the team obtained reproductive cells from mouse ovaries and showed that the cells would generate viable egg cells that could be fertilized and produce embryos.
They then applied the same method to human ovaries donated by women at the Saitama Medical Center in Japan who were undergoing sex reassignment because of a gender identity disorder. As with the mice, the team was able to retrieve reproductive cells that produced immature egg cells when grown in the laboratory. The egg cells, when injected into mice, generated follicles, the ovarian structure in which eggs are formed, as well as mature eggs, some of which had a single set of chromosomes, a signature of eggs and sperm. The results were published online Sunday by the journal Nature Medicine.
Image: Human cell cultures, via Shutterstock.
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