A team of scientists are analyzing Leia's genome this summer to learn more about how her anomalous chromosomes have affected her development and to determine if any treatments exist, or can be developed, to help her.

The team is led by Mike Tsay, depicted above in 2019. That year, Mike, a college buddy of mine, graciously paid to have Leia's genome sequenced and rallied a team of colleagues to analyze the results. At the time, doctors thought Leia could have a fatal brain disorder (just typing those words sends shivers down my back and a hollow feeling into my gut). The clock was ticking! But then the fatal brain disorder scenario was mostly ruled out, covid struck, Mike got super busy with a double whammy of professional and personal stuff, and justlikethat five years passed.

Mike is now circling back to complete the mission. What is the mission? When Leia was born, a chromosomal test showed she was missing a dozen or so genes and had too many copies of about 300 hundred genes. Sequencing her genome provided a more precise map of exactly which genes are affected. An analysis of that map that Mike says will take about 40 total person hours will shed light on which proteins were made in too small or too great quantities (it's the proteins being out of proportion that are the root of disorders and disabilities that affect Leia). Knowing more about these proteins could lead to a better epilepsy treatment, and could improve the trajectory of Leia's cognitive development and growth (Mike's team is understandably reluctant to be more specific about potential treatments and benefits. We'll see how it goes!).

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I expect the above paragraph is too sciencey for some, while being oversimplified for readers who understand genetics. I apologize to both groups!

In closing, I want to thank Mike for undertaking this mission. We talked recently about what would have happened if Leia was Jeff Bezos's daughter. We expect there would have been teams of Mike Tsays working within weeks of her birth to do the analysis outlined above and teams of researchers developing new treatments. One can't be too upset one isn't one of the .001 percent of humans that could have afforded to give Leia every advantage scientifically possible. We must be grateful to Mike that we can learn more now, that there's still hope of finding new ways to help Leia, as we approach her 10th year of life.

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