#141 Stan Crooke on Ultra Rare Disease Drugs

DNA Today
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Automatic TRANSCRIPT

He founded another pharmaceutical company and law room which we are diving into on this episode is part of our rare disease month celebration. So thank you so much. Dr kirk for coming on the show. I'm excited to talk about rare diseases. Today gloves. glad to be joining gave. Thanks so i thought we could educate people that may not be familiar with rare diseases that it affects less than two hundred thousand people in the us but taking this a step. What is an ultra rare disease. Well there's no generally accepted definition but at If we We defined it as having one to thirty patients in the world who have precisely the same mutation and so this is much different than just like one in two hundred thousand. You're talking about a handful or thirty people in the world. So that is where we're setting the scene for ultra rare disease. That's exactly right and it is exactly the number that matters because it's the numbers that caused the challenges that are unique to this patient group and what are some of those challenges and treating patients with ultra rare diseases that have ultra rare genetic mutations well of course it all stems from the numbers typically these mutations produce severe a manifestation of the mutation sometimes very rapidly fatal an f. A patient is lucky enough to survive. Typically they'll spend many years Seeking a diagnosis. And then if they're lucky they'll get to a facility that can genetically characterized that the mutation and even a neck case typically what they have to be told us. There's no treatment and it's very unlikely there will be the treatment and it that aspect of lack of treatment then warm was founded to try to meet the try to manage and for people to better understand. I mean what is the standard process for drug development so that we can compare it to how yours differ so vastly the standard process for drug discovery and development of course is highly regulated cars great many studies in animals and then numerous proofs of of value in you bins and a commercial entity also has to advertise all the failures against the few successes.

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