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Genomics Institute Laboratory

Using Genetic Research to Improve the Quality of Life for Children

With 100 years of experience as a leading pediatric healthcare provider, our work in the Genomics Institute continues to advance the way Shriners Children's provides care, making the future of our healthcare system look even more promising.

Located in the University of South Florida Research Park in Tampa, Florida, the Shriners Children’s Genomics Institute was launched in 2017. Led by Founder and Vice President of Research Marc Lalande, Ph.D., and the director of the Shriners Children's Genomics Institute Kamran Shazand, Ph.D., the Institute is working diligently to sequence 5,000 genomes each year, to fulfill our vision of using what we learn about genetics to improve the personalized care we provide and the quality of life for children with conditions treated by our healthcare system.

Improving Treatment Through DNA Sequencing

We’re taking significant steps toward providing families and patients next-generation DNA sequencing by offering it at our locations throughout North America. This is possible through our collaboration with Genome Medical, an organization with goals similar to ours: enhancing genetic research to develop more personalized, patient-centric treatments, by providing a network of clinical genetic specialists to support genetic research initiatives for healthcare systems.

The Shriners Children’s Precision Medicine and Genomics Project

A major initiative of our Genomics Institute is the Shriners Children’s Precision Medicine and Genomics (SPMG) project. The goal of SPMG is to discover breakthroughs and develop innovative ways to treat pediatric conditions, including cerebral palsy, cleft lip and cleft palate, club foot, scoliosis, and other neuromuscular conditions.

In spring 2021, we expanded the SPMG project to include our Mexico City facility. The SPMG is the first Shriners Children's research project at our Mexico City location. Collecting genetic samples from patients and families at this facility, as well as from our outreach clinics around the world, allows us to diversify our research. This sample diversity is important, especially with rare disorders, because analyzing larger amounts of data will help us determine if the unique characteristics we see are disease-specific or population-specific. With this additional information, healthcare organizations around the world will be able to develop more targeted treatment plans for their patients.

Collaborating to Find Cures

Because we see so many patients every year, our research team is in a unique position to be able to collect and analyze large amounts of genetic data related to the conditions we treat. All data analyzed in these studies is de-identified to ensure subjects’ privacy.

With over 10,000 patients with scoliosis and more than 6,700 with cerebral palsy treated annually throughout our system, the amount of genetic information we are able to collect from our own patients with these conditions has the power to transform how we care for these children and other children around the world.

With access to all of this data, we need highly effective tools to help us better understand it. Many of these tools come from our collaborations with industry and academic partners who contribute valuable technology and expertise that enhances our research efforts.

The work our genomics research team is doing with some of these industry partners includes:

  • Focusing on 200 idiopathic scoliosis patients, which allowed us to identify a large number of the genes contributing to this condition and the mechanisms of transmission. These findings will soon be validated in animal models, and results published for the international scientific community. This project is a collaborative effort that includes physicians and experts within the Shriners Children's system, as well as a number of external partners.
  • Identifying the genetic causes of arthrogryposis and finding ways to alleviate the debilitating symptoms, such as muscle contractures and the pain that is associated with these symptoms.
  • Understanding the role genes play in the development of cerebral palsy by collecting and sequencing the genomes of samples from 500 patients and their families. This is the largest comprehensive genetic study of cerebral palsy patients to date.

Learn more about our collaborations and how we’re working together to advance pediatric medicine through genetic and other research initiatives.

A Complex Approach to Genetic Sampling Provides Stronger Outcomes

We collect genetic samples using a method called trio sampling, which involves sequencing genomes from patients as well as their parents. Expanding sample collection to immediate family members provides a clearer picture of the specific genetic factors that contribute to the development of a patient’s condition and helps identify changes in a patient's DNA over time that may be contributing to their condition. The valuable data also helps us develop more precise treatment options and better understand conditions, which could potentially lead to massive breakthroughs in treatment and cures.

If you or someone you know is interested in obtaining additional information related to our Genomics Institute, please contact our research department.

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.
View Transcript
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.

A State-of-the-Art Genetic Research Facility

Through our Joint Board’s full and generous support, our Genomics Institute is fully equipped with the pioneering tools we need to perform sequencing of entire genomes and to process and analyze large numbers of data samples.

sequencing machines at the genomics lab

Breakthroughs in Pediatric Research

Support or learn more about the advancements in pediatric research helping transform the way we care for children.