Model Research: The Rare and Orphan Disease Center at The Jackson Laboratory

when I went in for the appointment on the 12-month checkup the pediatrician said I think there's something wrong here so we had a lot of tests done and it came back positive for Rhett syndrome and you know I flashed forward to her future and it felt like she wouldn't have one muscular dystrophy is a is the most common genetic muscle-wasting disorder that's diagnosed in boys initially it was difficult for my wife and I to think beyond those terms that that our sons would would not live into adulthood the number of individuals afflicted in all rare and orphan diseases around the world is over 350 million people the biggest problem of rare disorders is that drug companies do not invest in solving these disorders even though that the disease outcomes are so devastating so consequently by contributing to developing models that can test new therapeutics we actually serve a community that would be in effect neglected the rare and orphan disease center at Jax was established to make sure that the preclinical mouse models that are necessary to accelerate drug discovery were available to the scientific community discovering these mutations and the animal models first and translating that to the human genetics takes us in a couple of different directions and probably the more important thing for the patient's themselves is that now we have an animal that has the same genetic disease as they do that gives you a lot of power that you didn't have before instead of guessing whether this drug might have any effect on a motor neuron disease for instance you can actually test in the same genetic model that the patients are dealing with whether or not this drug can do what you want it to do the rare an orphan disease center partners literally with the entire scientific community it's never any one individual researchers lab you know who really hits the home run it's a collective effort over a number of different laboratories researchers NIH driven programs foundation efforts and even contract research organizations we've been approached by a number of different disease organization and disease advocacy groups in the past and they've asked me specifically how would I get more researchers studying this particular disease the biggest response is find the best models out there and get them into the Jackson Laboratory and make them available our collection of mouse models is over 5,000 unique strains and everybody has pretty much clear access to them and and and that's a pretty powerful tool at the Jackson Laboratory there are unique resources here that don't exist anywhere in the world I think that the orphanage genetic disease unit is well-positioned to both provide not just the research tools but also the knowledge about how do you most effectively use these tools that's really beneficial I think to any organization to have resources behind their their efforts that are that are well characterized and well established I think if you are a parent of a child who has been recently diagnosed with Rett syndrome I think you can feel hopeful we're so lucky that we know the cause and that's that's half the battle we're now spending the money and gathering the money to find the cure and and that's gonna happen I'm absolutely positive that's gonna happen I like to tell people when Matthew and Patrick were first diagnosed the world was in black and white because there wasn't a whole lot of research on the horizon now they're looking at gene manipulation therapy where they manipulate small pieces of RNA that helps with muscle function and if you arrest the progression of degradation of muscle function to me there's no difference between that and a cure the most successful endeavor that the rayon orphan disease center has encountered has been with a particular foundation called the spinal muscular atrophy foundation I have never seen a community rally around a disease like that we have over 40 or 50 models now for spinal muscular atrophy and I'm happy to say that spinal muscular atrophy actually has a drug in clinical trials now and it would be my wish that we no longer ever have to distribute another SMA animal because this will all be cured in the next few years

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