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Shriners Children's Genomics Institute

Shriners Children's Genomics Institute

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