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Genomics at Shriners Children's

Genomics at Shriners Children's

Genomics acquiring the data of all the DNA molecules in an individual cell. Through the DNA of our patients and their families Shriners Children's can better understand the genetic makeup that leads to many of our patients disorders.
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Marc Lalande:
Genomics is really acquiring the data of all the DNA molecules in an individual cell. So we're looking through the DNA of our patients and their families to understand the genetic makeup that leads to these disorders. We want to use that information to in the future build what's called a precision medicine database. Basically, using all the knowledge you have and have treatments specific to our individual patients to help them improve their quality of life.

Kamran Shazand:
As we know in science, if you don't study a large number of cases, you don't have a good sense of what exactly is common to all of those patients. That is exactly what we're doing. We have one or two coordinators at each hospital that participates in our project who contact patients and their families and they talked about the existence of this project, what it is for and what it can do for the entire population of our patients.

Kamran Shazand:
We plan to examine 5,000 patients over several years along with their parents so altogether, 15,000 subjects that we will do whole genome sequencing on. And with the softwares that are dedicated to analyze those data, we will try to understand where these mutations come from and how they cause these disorders in these children.

Kamran Shazand:
We have also a mandate to support all our hospitals in their research as soon as they need some genomic technologies. We work with them to understand what exactly these genes can do for them, what this knowledge that we're pulling together can help them with in treatment of our children. The fundamental knowledge is so rich that you can spin it in different ways, whether it's diagnostics, treatment, prognostic tools so this can do all of it logically depending on the nature of the genes on one side and the nature of symptoms and the disorder on the other side. I really enjoy as a father imagining that someday our hard work will pay off for these kids.