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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.

Shriners Children's Genomics Institute

Learn more about the Shriners Children's Genomics Institute, highlighted by the American Society of Human Genetics (ASHG).
View Transcript

Dr. Kamran Shazand, Ph.D., Director, Shriners Children's Genomics Institute:

The vision of the Genomics Institute at Shriners Children's is to build a clinical database of all the children who consent to be part of this project and have these huge database of clinical variants available for our researchers and our physicians for any sort of research on any of the disorders that our physicians see.

Dr. Marc Lalande, Ph.D., Founder and Vice President of Research, Shriners Children's Genomics Institute:

Shriners Children's is a healthcare organization. It has specialty care in orthopedics, cleft lip palate, burns, neuromuscular disorders, and other diseases as well. We have locations all over North America, stretching from Montreal to Mexico City, as well as outreach clinics going from Cyprus through Central America and other locations as well. Because of our reach that diversity is built in to the samples we collect from the patients we treat at Shriners Children's.

Dr. Kamran Shazand, Ph.D.:

Diversity is a key point to respect in genetics. As we all know in the community, the genetics of each ethnic background has slight differences. And as a result, even mutations that are associated with disorders can be different from one ethnic background to another. By getting the highest level of diversity in our research project, we are hoping to have access to an international level of genetic information so that we can find those different variants for a given disorder in different populations in the world.

Dr. Marc Lalande, Ph.D.:

Genomics is revolutionizing healthcare because it's giving us information that we didn't have previously. The technologies built over the last 10, 15 years have moved us from looking at a rare disorder with a single gene defect to now how do we use genetic information from the whole genome, which is 3 billion base pairs of DNA, in disorders that are more complicated?

Innovation is critically important. We have to innovate to help our kids. And given the diseases our kids have, rare diseases, other more common ones like scoliosis and cerebral palsy, I think genetic information will become critical in not only diagnosis, but also in treatment down the road.

Dr. Kamran Shazand, Ph.D.:

We are a team of six people here. We're all PhD level researchers with various expertise that compliment each other. And at our network of hospitals and clinics that we have at Shriners, all our physicians are world renowned experts in their respective fields.

Dr. Marc Lalande, Ph.D.:

We are very fortunate to have cutting edge technology. Our new NovaSeq sequencer, we can sequence 160 whole genomes in two days. And because we have thousands of samples to sequence, that allows us to go faster, get the results more quickly. We also have bioinformatics capabilities, which are key to genetics in interpreting the data coming out. This technology is allowing us to make discoveries that are going to change the lives of the kids we treat.

Dr. Thania Ordaz, M.D., Shriners Children's Mexico:

Shriners Mexico is unique because of its population. Most of our patients have a complex disease. The interesting thing is to study this genetic basis with the whole genome sequencing and also to understand the same disease, but in other patient. It is important to have sequencing the parents because when we have trio samples, it's easier for sequencing methodology to identify some of the variants that are disease-causing mutations.

Dr. Noemi Dahan-Oliel, Ph.D., OT, Clinician Scientist, Shriners Children's Canada:

Arthrogryposis or arthrogryposis multiplex congenital is really a term that means being born with contractures to the joints in multiple different body areas. It is a set of rare conditions because it occurs in one in 3,000 to one in 5,200 life births. However, at the Shriners across our different hospitals in the network, we've served a population of over 3,000 children.

In order to understand more in arthrogryposis, we've started a registry that was funded from the Shriners Children. And we're so proud of this work because it includes hospitals across North America and most recently in Mexico.

Following patient consent, we have the collection of saliva and those are shipped to the Genomics Institute in Tampa for sequencing. And then our own bioinformatic expert here does the analysis and then we can share those research findings with the families.

Amé Hutchinson, Mom (also with distal AMC) of two youths with arthrogryposis:

My own experience growing up, they always said to me that it was not hereditary. But now I know that that is the case. We have since participated in these research projects and have identified the gene in myself and my children. The more research they do, the more information we have, the better armed they are to help families.

Dr. Marc Lalande, Ph.D.:

In the four years since we built this genomics institute from basically the ground up, we've made important discoveries already that have been published and are moving towards helping our kids with disorders such as cerebral palsy and scoliosis.

Dr. Jon R. Davids, M.D., Assistant Chief of Orthopedics, Shriners Children's Northern California:

If you had asked me 10 years ago whether there would be a role for genetic analysis for children with cerebral palsy, I would've said no, but I would've been wrong. Up to a third of the children who we see with the diagnosis of cerebral palsy actually have some type of genetic abnormality. I would anticipate in the future that these data will help us with clinical decision-making, guiding our interventions and improving our outcomes.

Dr. Kamran Shazand, Ph.D.:

With the help of the best technologies right now on the genomics market and the best expertise, we should be able to discover quickly the genetic background for the majority, if not all of these pediatric disorders. And the hope is to use this data with the help of gene editing technologies that are being developed right now. In parallel, we can start doing some gene editing and correct those mutations and give a better health to our patients.

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Compassionate, innovative care that improves the quality of life for children and their families.

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

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