Once upon a time, in a place far away there was a different kind of horse. He was called a zebra. And though he looked a lot like other horses, he knew his white and black stripes made him different, rare. He wondered if there were others like him, so he set sail on a journey across the lake to see for himself.
The journey wasn’t easy. A storm came up and forced him to board a small lifeboat. After it passed, he was set adrift. Feeling alone and scared, the rare zebra saw that the lake opened onto an ocean. The shoreline that once seemed to be within reach now seemed farther and farther away.
Suddenly, millions of tiny little waves began to rock his boat – some terrible and scary, some beautiful and smooth like a gliding path. He thought, “Surely one of these waves will propel me to safety, but which one? There are so many.”
Then, from far away, a fisherman spotted the rare zebra in the lifeboat and vowed to help him. But how could he get to him in the vast waters? That would take a lot of work. So he looked for patterns in the waves, which he used to guide and direct his boat. He found calm spots between waves and learned to harness the power of the larger waves to propel the boat forward. Some of the waves started to flatten out, but as night fell, the horizon was still far from sight. Seeing the stars in the sky above and remembering how he used to stargaze with his father, the fisherman noticed how the stars reflected off the water. That’s when it hit him… each brilliant star was part of a larger, more brilliant constellation, and each was unique and different from all the others in the sky. He peered up into the heavens and strained his eyes. Then, discovering a pattern, he yelled “Ahoy!” steering the Zebra’s lifeboat toward the brightest star in the sky.
Back in the lifeboat, as the sun began to rise, the rare zebra saw that he was closer to shore. “He did it!” The fisherman picked the brightest star in the sky to guide his path and was able to motion the biggest wave to guide him to safety. Now, in a better place, he would no longer be alone. Together, we were back on course, on their journey…thanks to a kindhearted fisherman, a bright star in the distance and millions of tiny little waves.
Understanding the journey
- Bright stars – Just as the fisherman painstakingly looked for a familiar constellation of bright stars to find a way home, our scientists wade through the connections that 26 thousand genes make when they form a genome looking for that “one building block out of more than 3 billion” that can be identified as different and unique – potentially making it the key to diagnosing and decoding the rare disorder that affects 1 in 150 kids in the U.S.
- Millions of little waves that crash into the rare zebra’s boat are comparable in number (over three billion) to the building blocks in the genome sequence. TGen scientists perform trillions of calculations using some of the industry’s most advanced super computers, crunching data day and night, looking for correlations and clues to help find the answer that can potentially lead to a diagnosis.
- The end is the just beginning – As in our story, triumph doesn’t necessarily get you out of the woods or, in the case of our story, the water. And a diagnosis isn’t always a cure. But in many cases a diagnosis can open the door to community support, state/local government resources and potential treatment options that can lead to a better quality of life and a reason to hope again.