Presenter: Hannah Stanley
Guest: Dr. Brian Skotko
Guest Bio: A Board-certified medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General Hospital, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities.
Health Professional Radio
Hannah Stanley: I’m Hannah Stanley. This is segment four of four of my interview with Dr. Brian Skotko regarding his work and the work of his colleagues within the world of Down syndrome. So you mentioned that with this research, you guys – you and your colleagues at Mass General – are starting a new clinical trial with two different medicines. What are the beliefs that they will accomplish?
Dr. Brian Skotko: The hope is that these medicines might improve the learning capacities, the memory capacities in adults with Down syndrome. The medicines have shown to be very efficacious in the mouse models with Down syndrome in earlier studies, and the side effects have been minimal to nonexistent.
So now is the prime time to test them in willing and voluntary subjects and people with Down syndrome, to see whether or not there is some sort of enhanced memory and cognitive capacities in adults with Down syndrome, and whether or not it’s possible to stave off Alzheimer’s disease, which sometimes sets in for adults and seniors with Down syndrome.
Hannah: Now, is it the same model for a typical person with Alzheimer’s, or is it an earlier onset? What are the differences for those with Down syndrome?
Brian: We know about 50 percent of people with Down syndrome by the age of 50 will exhibit some of the signs of dementia that goes along with Alzheimer’s disease. But what’s so fascinating is people with Down syndrome probably have the keys to unlock the mysteries of Alzheimer’s disease in the rest of us. That’s because Alzheimer’s is caused in part by plaque development in our brains. Well, that plaque development is encoded by genes on the 21st chromosome in all of us.
People with Down syndrome, because they have an extra copy of that 21st chromosome, overproduce those plaques. Therefore, those plaques start to develop earlier in people with Down syndrome and faster in people with Down syndrome. One of these medicines from the company Elan is targeting how to prevent that plaque from being formed in adults with Down syndrome, and what we learn from our friends with Down syndrome might very well hold some answers for the rest of us.
Hannah: I do not have a child or an immediate family member with Down syndrome, and I am still so excited about what I’m hearing you say today that I kind of want to jump up and down. Do you ever just jump up and down and do happy dances in your office?
Brian: I think every day at clinic is a happy day, and I truly have to say that because I get to work with people with Down syndrome who have taught me so much over my lifetime, and I have such an incredible set of teammates to work with. So our work is deeply meaningful. We love what we do. But it’s all because people with Down syndrome make it worth it.
Hannah: Very fascinating to me, and what you have shared with us and taught us today about those with Down syndrome and the families. Then not only that, but how exciting it is on the brink of the research. This is an exciting time for this diagnosis, either being able to eliminate the symptoms or the medical conditions that go along with Down syndrome. And then also being able to use these studies for those with Down syndrome, to benefit those with Down syndrome, and also have that research apply to other people who do not have Down syndrome but could be suffering from the effects of dementia and Alzheimer’s.
This is an unbelievably fascinating time. Given that it is such a small sample size when compared to diseases of greater magnitude … the autoimmune diseases, I kind of … I don’t really feel bad for them, but I always know they have to fight harder for their research dollar, and that’s kind of where it sounds like you guys might be headed as well, because it is only about 250,000, you said, in the United States?
Hannah: Now, what other research are we aware of? Would there be anything different going on overseas in Europe, anywhere else?
Brian: I have to say there are researchers all across the globe who are looking at Down syndrome and trying to unlock the mysteries for all of us. Certainly there is great research into educational components of Down syndrome – how do we best educate people with Down syndrome – coming from the United Kingdom. There is, of course, great epidemiologists in the Netherlands who are looking at and counting the number of babies and people with Down syndrome, which are important for our tracking purposes and our public health outreach efforts.
But I would have to say we’re very fortunate here in the United States because we have a lot of researchers who are dedicated to people with Down syndrome. But again, that dedication is dependent, in part, by having the appropriate funds and funding to fund Down syndrome. When you look at the National Institutes of Health, our governmental agency that uses our taxpayer dollars for research purposes, people with Down syndrome only have about $50 per person with Down syndrome allocated to them for research.
When you look at far rarer conditions like Fragile X, where nearly $1,500 per person is given, or cystic fibrosis, where nearly $3,000 per person is given, you realise that there is not a parity. Of course, as a medical geneticist, I would never argue that important funds would be taken away from other conditions. But for a condition like Down syndrome, which is actually far more prevalent than other conditions, the amount of funding and the amount of investment is far smaller.
So if the funding’s not there, will the discoveries start to dry up? That’s the open question.
Hannah: Now, are there cultures that do not have Down syndrome, or is this something that is consistent throughout ethnicities, et cetera?
Brian: We know that people with Down syndrome are born to people of all different races, of all different backgrounds, in all different countries. People with Down syndrome are the rarest, however, in those countries where there are termination options or allowing expectant families to discover Down syndrome prenatally and choosing termination as an option.
Hannah: Interesting. I’m going to just step out of bounds here and just say those that would have maybe a cultural stigma for that would have a higher population as well.
Brian: We have new prenatal tests for Down syndrome that came to the market in October of 2011, which now allow Down syndrome to be detected earlier and noninvasively. So prior to getting an amniocentesis or CVS, women can get a blood test and now learn with high accuracy whether or not their foetus might have Down syndrome. As soon as that test hits a country’s market, it is a referendum, if you will, on the value of people with Down syndrome by their society.
Here in the United States, people with Down syndrome can and do achieve a lot because of the social progress and the limitations and the barriers that have been taken away. But as these new prenatal tests start to be made commercially available around the countries or in countries where people with Down syndrome haven’t yet realised those opportunities because of social stigmas, then the question becomes, “What is that country’s or that population’s understanding of Down syndrome?” Because what they see is not necessarily what is possible.
Hannah: This is so fascinating. Now, tell me, with that blood test, is there the possibility for false positives?
Brian: Yes. The blood test does have false positives. So if a woman or her expectant partner gets a positive diagnosis of Down syndrome, the recommendation is always to confirm with an amniocentesis or a chorionic villus sample.
Hannah: Which is commonly known as CVS.
Brian: However, if you get a negative result, then the recommendation is they could stop there, because it’s rare to have a false negative, although not impossible.
Hannah: Okay. So you could have a blood test that says that that child has nothing chromosomally abnormal and still have a Down syndrome. But this is something that would happen at conception, so it is not something that can develop later on in the pregnancy. It is what it is.
Speaker: That’s right. Down syndrome occurs almost always when the sperm and egg join at conception. There are rare forms of Down syndrome that happen a few days or weeks after conception, called mosaic Down syndrome. But once Down syndrome is detected prenatally, as early as 10 weeks into gestation, right now there’s nothing therapeutically that can be done. So parents, at that point, need to make a decision on what they will do with their pregnancy going forward.
Hannah: Unbelievable information. This is so fascinating. Now, one of the things that I knew – and I’ve had two pregnancies and two, actually three amniocenteses. I had to have a third one for a separate reason to check lung development. But it is understandable why many women would not choose to do that, but I was an older mom. So it is one of those things though, that some of these genetic alterations, we’ll say, do increase with age of the mother. Is it because of the age of the egg, or do we know why?
Brian: You’re right. So as a mother gets older, her chances of having a child with Down syndrome increases. We don’t quite understand the mechanisms for that, but we believe that as a mother gets older, her eggs have more of a possibility of passing along that extra chromosome. However, it should be noted that sometimes Down syndrome comes from an extra chromosome from the father. So it’s not always exclusively from the mother.
Hannah: So much fascinating information. Dr. Brian Skotko joining me from Massachusetts General. Doctor, your title again, please?
Brian: I’m the co-director of the Down Syndrome Program in the Division of Medical Genetics at Massachusetts General Hospital.
Hannah: Incredible information. Part of what we wanted to talk to Dr. Skotko about today we have, but I want to review it again. A colleague of yours has been able to isolate, in a Petri dish, that extra chromosome. If you could tell us, so I don’t butcher what is happening, [laughs] can you share again with us what has been discovered?
Brian: Sure. Dr. Lawrence and her colleagues have figured out how to silence that extra chromosome in a Petri dish. So functionally, they have cured Down syndrome in a single cell in a Petri dish, and it raises all sorts of questions on where will the research go from here and how far off are we away from therapeutic intervention?
Hannah: Unbelievable information, and what you’ve shared with us today, about the lives and happiness and fulfilment of those who have Down syndrome and those who are closely around them and love them and care for them, has just been fascinating. Those that you spoke to who have Down syndrome are vastly happier than the general population as a whole, and it is just incredible information, especially when faced with the fact that Down syndrome could go away, based on how this research develops. It’s incredible, the choices that will be ahead of those families.
Brian: It’s true. When the history books are written about Down syndrome, 2013 is going to have its own chapter. There have been breakthroughs in science. There have been breakthroughs in social barriers being ripped down, and there have been breakthroughs, most importantly, by people with Down syndrome, who are every day demonstrating that they are important contributors to our communities.
Hannah: Absolutely incredible information. Please, please – I’m going to be following on Twitter, and as things develop, please make sure that I’m aware, so that we can make sure we bring that information to the listeners here in Chicago and to the listeners in Australia. It’s just fascinating stuff. I’m going to be following the story very intently, and I’m so excited for what the research is going to bring in and the discussions beyond that. Dr. Brian Skotko from Massachusetts General, thank you so much for your time today.
Brian: Hannah, thank you so much for having me.
Hannah: This has been segment four of four, completing my conversation with Dr. Brian Skotko. This is Health Professional Radio. I’m Hannah Stanley.