Stephen Kingsmore

Stephen Kingsmore, M.D., D.Sc., President & CEO, Rady Children’s Institute for Genomic Medicine, holds the Guinness World Record title for Fastest Genetic Diagnosis.

There’s a revolution happening at Rady Children’s Hospital, as whole genome sequencing sweeps into the clinic.

Stephen Kingsmore is a name you might be familiar with. He analysed Elvis’s genome, and holds the Guiness World Record for Fastest Genetic Diagnosis. Trivial? Maybe. But both of those accolades point at something very important. For all the technical and medical brilliance, you need to take the public with you if you’re going to succeed in revolutionising healthcare.

FLG: San Diego is quickly become the Genomics Capital of The World. What is it about the area that you think has lent itself so well to the development and application of genomic technology?

SK: I think it’s a perfect storm of things. It’s not one thing, but a constellation of things. We have 800 biotech companies in San Diego and a large number of those are focused on genomics. We have many world-class research institutes that are clustered in the same areas as the biotech community. We have one of the best universities in the world, UCSD, and its strength really is in its department of medicine. If you think back to Novartis, they were one of the first to really focus on genomics for drug development. Because of all that, San Diego has become very much a tech driven city and the whole populous are ignited around genomics and its potential. We have a very progressive type of culture in that respect. Illumina is the lead 800lb gorilla of the tech community.

Their phenomenal success, and their lasting leadership, has really driven everything that occurs around here. They are also a major employer in San Diego County. All of that together has really helped. I am personally struck by Ernest Rady. He and his family donated $120 million that’s helping to build Rady’s Children’s Hospital, by launching the Rady Children’s Institute for Genomic Medicine within the hospital setting. Such vision and generosity uniquely positions us to become a leader in paediatric genomic medicine, which is really an area that was being overlooked around the country.

FLG: You shot to public fame when you became the man that solved the mystery of Elvis’s death. How did that come about?

SK: Yes, that was one of those curious things which occasionally happens. Stephan Schuster had been working with the company that produces that series of shows and they had managed to get access to Elvis’s hair which had been preserved by his barber. Every time he cut Elvis’s hair, he put it into a box and so they were able to get access to this. Stephan was doing the sequencing component which was the tough bit because the DNA was so badly degraded. He had said that he would really like to get a medical angle on and see if there is any link between what’s in the genome and Elvis’s life story. So we took a look and we saw results in this area that we thought potentially could explain his demise.

FLG: Are there any other historical figures’ genomes you’d like to look into?

SK: You know, that’s one of those things where I can say, I did that once, and I don’t think I’d ever do that again. It ignited quite a bit of controversy and that became a little edgy. I think I will stick with medicine. But we did originally have this amazing retinue of people lined up. People like Marilyn Monroe and John F. Kennedy, but unfortunately either the samples were not available or the DNA was too degraded. So Elvis was the top billing and maybe mercifully so.

San Diego Spotlight

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Read our full interview with with Stephen Kingsmore (and find out about his world record for genetic diagnosis!) on page 34 of Front Line Genomics magazine, Issue 9. And while you’re at it, check out the rest of our spotlight on San Diego, the Genomics Capital of the World!

And don’t forget to catch Stephen on the plenary stage at Festival of Genomics California, today at 9am PDT.

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