We don’t just like hearing what our clients are up to … we love bragging about what they’re doing to the world as well! This week we’re showcasing Dr. Stanley Nelson, and his team at UCLA Health, who used next-generation sequencing and our VarSeq software to help diagnose a child’s long running medical mystery.

Audrey Lapidus knew there was something wrong with her son, Calvin, since he was a baby. It seemed like it didn’t matter how many different specialists she went through, or how many different tests Calvin went through, they were always left without a diagnosis. But, they didn’t lose hope and connected with Dr. Stanley Nelson in hopes of ending Calvin’s medical mystery.

Nelson’s team knew genetic testing was going to be a key factor in finding a diagnosis for Calvin. The young boy became the first patient to undergo exome sequencing, a test that allows for doctors to analyze over 20,000 genes at once. And, shortly after, Calvin became the first patient to be diagnosed from the exome sequencing results. His diagnosis, which is a rare condition called Pitt-Hopkins Syndrome, gave the team a point to move forward from. Calvin began therapy and quickly made strides, which seemed unlikely not long ago.

You can read the full story, or watch their interview here.

Exome sequencing now allows doctors to search 7,000 disease-causing genes for a few thousand dollars. The impact this could have is enormous such as finding the genetic changes in diseases like autism or cancer.

We are incredibly honored to hear how our products are being used in the clinic, and it is stories like these that drive us to develop software that will help enable precision medicine. We’d love to hear how your team is using any of our products in the clinic – if you’d like to share with us please email [email protected].