Cat Lutz, Ph.D., M.B.A. Vice President of the Rare Disease Translational Center at The Jackson Laboratory, talks about how you can help family and loved ones who suffer from rare diseases.
Transcription
We refer to this phase and the patients as their diagnostic odyssey, right? They know something’s wrong; they don’t know what’s wrong. The one thing that we try to encourage patients to do is to really advocate for genome sequencing early on. Because if it is an ultra-rare disease or a very rare disease, you can go from specialist to specialist, but the chances are that you’re going to find a physician that’s going to say, “Oh yes, of course, you have a mutation and KIF1A,” or some other. It just doesn’t work that way.
If it were Duchenne muscular dystrophy or ALS, I think that those are a standard. These are diseases with standard readouts and standard diagnostics. But for the ultra-rare, where there’s just a few hundred people in the world with it, the best way to move on and confirm is to do this diagnostic sequencing so that you can better understand, yes, my child has Batten’s disease, or they have Niemann-Pick, or they have Zellweger syndrome or whatever ailment that they have. If we can define it at the level of the DNA and at the level of the sequence, that’s a huge hurdle, and now we can move on because at least we know what we’re dealing with.
I think the reason why we are at this inflection point for rare diseases, it’s almost sort of a watershed moment because prior to some of the genetic-based therapies and the strategies that we’re looking into, even if you were lucky enough to get a diagnosis and somebody said, “Yes, your child has a mutation in this particular gene or this particular set of related genes.” The only thing that patients would have been that diagnosis, and a lot of times they may have a standard of care, they may have physical therapy or occupational therapy. For the most devastating of diseases, I think a lot of what the parents were told was to go home and love your child as much as you can before they die. That unfortunately, has been the consequence and the reality for a lot of patients and families with rare diseases.
The difference between now and 10 years ago is that there are more genetic-based therapies in play. Not only are they, but I’m also going to say, theoretically possible, they’re a reality in the clinic. If you have a genetic defect that causes a loss of function, is gene replacement available to you? Is gene augmentation? Can we use antisense oligonucleotide? Can we package the wild-type gene in a virus and deliver it? Can we think about gene editing? Then can we also look at screening modalities, high throughput screening modalities for small molecules that are already in play and FDA approved? These are the differences between now and just a few years ago and parents know this.
If you had… I think we can all imagine if it was our child. Knowing that there’s nothing you can do is a very sad day. But understanding that there is something you can do and therapeutics that you can possibly investigate to save your child, there’s not a parent in the world who isn’t signing up for that. That’s really what we’re seeing in terms of this sort of wave, a movement, if you will, in trying to understand what the possibilities are for genetic-based therapeutics, and can we move them into mainstream medicine and not just a PowerPoint presentation on somebody’s slide deck?
