Changri Xiao, MD, a neurogeneticist, discusses his work with rare genetic diseases, which often affect multiple organ systems and people of all ages. He highlights the challenges in diagnosing these conditions, which can take 6 to 15 years due to their rarity and technological limitations. Xiao also introduces the Undiagnosed Disease Network, an NIH-led initiative that connects patients with specialized centers to utilize advanced research tools for diagnosis, offering hope and expert reviews for those with undiagnosed conditions.
My interest has always been in rare genetic diseases, and the thing about genetic diseases is, uh, the, you know, genes are in all of our cells, and there's the majority of genetic diseases actually impact multiple organ systems, and they're also not restricted to any specific age or age. Hi, my name is Cheng Rii Xiao. I am the neurogeneticist. A rare disease was actually defined by concrete federal law as a disease that impacts less than 1 in 200,000 individuals, right? Now some of the, so these, so that's kind of the realm of disease I'm talking about. So things that are and the, and those are kind of the zebras. Courses that's kind of the analogies physicians use, um, but most of the genetic diseases I deal with are even rarer than that, you know, software there's, you know, maybe 30, maybe 50 people in the world, about 80% of them are are we think is genetic in origin, right? So that's why as a neurogeneticist, you know, I've become very interested in this, um, and of those, the majority of them need a neurologist, have some sort of neurological sequela, um, now. One of the problems with these rare diseases is even when a family, even when we're really certain based on the family history, based on how complex disease is that there is that there is a genetic origin, we often either can't find an answer because of limits in technology or it takes a really long time to find an answer to explain what it is because you know, again these are not things doctors learn about in medical school. They're not in our algorithm for diagnosis. They're not these tests are not commonly done. So the data tells us that when someone has one of these rare diseases, on average it takes between 6 to 15 years to figure out what the underlying diagnosis is. That's a really long time, right? And those patients, you know, going through that diagnostic process is what we consider our undiagnosed patients, so patients that are suspected to have a genetic disease, but we haven't been able to find the explanation yet. So the undiagnosed disease network is actually a. Uh, an NIH led initiative, um, led by the National Institute of Health, um, it basically is a group of centers with experts with recognized expertise in rare and undiagnosed diseases, uh, that patients who are kind of lost in that odyssey, if you will, you know, can be referred to because a lot of times that, you know, the reason that family or patient has not been given an answer is because it's an answer that can't be found using commercially available technology. We really need to develop. New tools and things that are specific for this family to find an answer. So anyone can apply to be part of this program. The application through a portal by Harvard Medical School is centralized, and then once you apply, they'll collect information like your address, what type of problems you have, and they'll refer to one of one of currently 12 active clinical centers across the US with us kind of being the hub for Southern California and a part of the southwestern United States. Um, when you apply, once you apply, uh, we collect your medical records and a team of medical experts in rare disease that's multidisciplinary, you know, we have geneticists, pediatricians, internist, cardiologists, and the list goes on and on, um, we'll review your records and we will make a determination about mostly based on whether or not you would benefit from the research tools we have today. Um, so I would say even if we, even if someone applies and they end up getting quote unquote rejected, meaning we don't think more evaluation will be helpful, um, we will still generate a full summary, you know, what the records are reviewed and what we think the next steps could be, right, even if we can't help them. So at the very everyone will benefit from an expert sort of review. You can kind of treat us like a second opinion sort of process of their disease progress.
