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Girls cells genetic study: 2 sisters with 'unique genetic mutations' offer cells

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Two girls offered their cells to a genetic study in hopes that researchers can learn more about their rare conditions. On Dec. 8, NBC News reported that 15-year-old Hayley Mogul and her 9-year-old sister Bari both suffer from "unique genetic mutations" -- Hayley lacks fine motor skills and cannot write while Bari is still eating baby food and drinking out of a baby bottle. It's unknown if those things will ever change -- but a new study might be able to help (if not the Mogul girls, maybe other kids with similar mutations in the future).

"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," NBC News reports.

Testing the girls' cells in this genetic study could prove instrumental in the way doctors treat patients. Because the Mogul girls both have different mutations (and therefore different limitations), these genetic tests that involve stem cells could change medicine and science... forever... especially if the tested cells react the same way.

"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 (sic)," NBC News reports. Hayley has a mutation in a gene called RAI1 while Bari has an RAI1 mutation and a similarly unique mutation in the GRIN2B gene. Both their parents were tested and do not have any mutations.

The girls' cells in the genetic study will be tested to see how they interact and affect the neural system. Their parents are happy to be doing "something positive for humankind" and are hopeful that the testing will provide knowledge in an otherwise dark area of medical science.

© Effie Orfanides 2013



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