PWS Research Symposium Highlights [2018 Conference Video]

This blog is based on a presentation at the FPWR 2018 conference. You can watch the complete presentation by clicking on the embedded video. If you don't have time to watch the full video, we've included a full transcript of the presentation below. You can also watch the full set of conference videos on YouTube.

 

Video Transcript

Susan Hedstrom:

On Thursday, we had our annual research symposium and this group, the research symposium, absolutely amazed me. It exceeded my expectations beyond anything I could have expected. Over the past 10 years we’ve been funding a number of research projects. As we mentionedalmost $12 million dollars by the end of the year (which is equivalent to about 150 research projects). Those researchers are now bringing in data and findings and they’re willing to share with people. They are sharing, they are collaborating, and they are networking. Being able to watch this was so impressive.

[A photo is shown of 150 researchers in a room].

Last year there was about 75 or 80 (researchers), so we’ve doubled the amount of research that’s been taking place. It’s super exciting. I tried to go to a couple of sessions that were pretty technical. We have brought Theresa Strong and she is going to summarize in layman’s terms, so that we can understand some of the great work that’s taking place. Let’s give Theresa a hand. She’s been presenting a lot today.

Theresa Strong:

I have the simple task of taking about 50 scientific presentations, boiling them down into something that you all can understand, and enjoy for 45 minutes. We’re going to give it a go and I’m sure I won’t do justice to all of the great science that was presented. Hopefully I can highlight a few things that will be of interest in that you can take home along with all the hope you'll have from this conference as I do. We had about a 100, as Susan said; about 150 participants, which is our largest scientific day ever and it was a really nice mix of basic scientists (people who are in the lab looking at molecular stuff everyday), clinicians (people who are who are taking care of our kids in academic clinical centers), and a lot of industry. That was a great mix for me to see the academic scientists talking to the industry people, to see the clinicians talking to the basic scientists, and all the collaborations. We had 26 oral presentations, which is a lot for a day, so we had to do a morning session where we kept everybody together. Then we did breakout sessions in the afternoon because there was no way we could fit in everything in one day. Then we had 22 posters. You remember your science fair, right? You had to do a poster. Even grown-up scientists do posters. That’s how we present a lot of work. I remember telling my brother (he's in finance) and he was like, “you do posters?”. Yes, we do posters and it's actually really good. There's a couple of leftover posters there and you can see the poster boards. The nice thing about the posters is if you're presenting a poster, you stand by your poster and people come up and you tell them about the research. It’s a really interactive time. At the end of the day, we had a two-hour session with a little bit of wine and a little bit of food. There were some great conversations around the posters. With PWS, there’s research going on all the way from understanding the genes through clinical trials. It was a great mix of basic science clinical science and clinical trials (all the way across the spectrum). My big picture takeaways: the first thing was that these were really high-quality science presentations, so they were really good scientists. They were really good presentations. I think that people who were basic scientists were learning about the clinical stuff. People who were clinical scientists were learning about the basic stuff. It was really nice and I'm not alone in that view. I’ve got several people saying, “you know how impressed they were with the quality of the science?”, which is great. Another thing that I think was really important is we had a lot of young smart enthusiastic trainees. This year we had several graduate students and postdocs presenting. I know that I was not as composed and good at presenting when I was a graduate student in postdoc. They were really good and it was really nice to see them. Some of them stayed over as part of the family conference. You may have seen them wandering around. They’re really young and impressionable and we go into science because we want to cure diseases and help people and to be able to see these families. We had many parents who also participated in scientific data, so that opportunity to see what I'm doing at the laboratory bench makes a difference to a family. I think is a really important thing for them, so it was great to have them here. Like I said, we had a critical mass of young people. We also had many new faces, some of whom were young and some of them were not so young. People from other fields that were coming to study PWSmy take-home feeling was that we have an incredible group of scientists that are studying PWS, so we should all feel heartened about that. I'm really thrilled about that so I’m going to try to pick out a few things and tell you about them. In our morning session we tried to pick things that were most impactful and would be most appealing to everyone in the audience. Here is a list of those.

[Visual slideshow]

I'm going to pick out a few of the talks in the morning and tell you a little bit about those. The first one was from Elizabeth Hammock, who is a young investigator at Florida State University and she is someone who we've recently funded. She is new to the PWS field, but she is very interested in oxytocin, how that system evolves, and how it is the basic physiology of the oxytocin system in in all kinds of animals. She uses mainly mice to study, but she was interested. She was intrigued by the story and PWS and there's clinical trials for infants with PWS trying to replace oxytocin. She’s become interested in how the normal physiology of oxytocin is and how that might impact our disorder. She has funding to look at oxytocin and the receptor for oxytocin in the neonate (right after birth). How is this system interacting? She’s got some really interesting data that says we think of oxytocin as being in the brain and it is in the brain; but newborn babies and little mice shown here, there's the receptor for oxytocin; It’s not expressed in the brain at very high levels when they're first born. Instead, this is a cross-section of a little mouse embryo and in the green, you can see the trigeminal nerve. That's a nerve that innervates their whole face and their mouth and what she showed is that the oxytocin receptors are actually expressed in that whole oral cavity. This probably has to do with our kids. We see that poor feeding (and there's been some studies to look at how oxytocin improves feeding in babies with PWS) and it may be relevant because the oxytocin receptors are actually in that oral cavity. We're doing intranasal oxytocin and we're assuming that it's all going up into the brain and that's where it's having its action. What her studies are suggesting is maybe it's in the mouth and then that trigeminal nerve is sending that signal to the brain. This is really important for understanding how can we best use oxytocin in infants with PWS. She also found that some of the oxytocin receptors are co-expressed with many of the PWS, the Magel2, and the necdin genes. They're expressed in the same neurons in that trigeminal area, so there seems to be some co-regulation of that.

Why is this important? Her studies are really focused on whether this peripheral oxytocin (outside of the brain) in that oral and nasal cavity modulates the sensory motor reflexes. How does this receptor there really help babies learn how to how to suckle and how does that feed forward into their brain? This is important because she's continuing to look at this in mouse models and it could impact our understanding of how best to use oxytocin in babies with PWS. Also, we think about oxytocin and delivering it to the brain. It's also another step to seeing its effects elsewhere in the body. Another study was also an FPWR funded study by Carrie Bearden at UCLA. Some of you with older kids may have participated in this study, which was a web-based study about cognition and PWS. Dr. Bearden is another investigator; she's a senior investigator and she's been working in the area of predicting psychosis in the normal population and also in another neurodevelopmental disorder 22q (a deletion syndrome on chromosome 22). She's really interested in if we can predict who's at highest risk for developing mental illness with the eye towards how can we intervene? Our kids are all at high risk for mental illness and to me as a parent that's one of the scariest parts of PWS. Our goal here is to try to be able to predict who's at highest risk? Then we can start to look at how can we moderate that risk? Are there interventions that we can do? There are some low-risk interventions like fish oil, exercise programs, and mindfulness that may be able to impact that. First, we have to understand mental illness and PWS and how is it similar to mental illness in the regular population? How is it unique to PWS? Dr. Bearden came to our mental health research workshop back in 2015 and she gave a presentation about her work in normal populations and also in 22q. Those individuals are also at very high risk of developing schizophrenia. They've been trying to risk model that as well and she has that background and is bringing that to PWS. She's been doing a study that's all web-based. My son did it. It was a little challenging because it can be a little bit frustrating. It’s a quick cognition. It’s got a whole battery of tests that they have to do. There's some facial recognition and there's a battery that has been used in other populations. She's comparing how does PWS compare to these other populations? The battery includes cognition processing time. We know our kids are a little bit slower at processing memory reasoning and then looking at facial expressions. She's in the middle of doing that study. She's not completed. If you have a child I think the age goes down to 10 and above. If you haven't participated she has more than 150 data points but would like more. The website at the bottom has the information about that study. To date what she's found is that many individuals with PWS do have unusual thought processes. They do have a higher suspiciousness, which sometimes is associated with a susceptibility to mental illness. We know that individuals with PWS, if they're going to have a mental illness, it tends to hit at that. So far, they haven't seen a difference between genetic subtypes in their sort of cognition and processing. That's a little bit different than what we see in the pop in the PWS population, where individuals with UPD tend to be higher risk than deletion, although both have some susceptibility. She's continuing to analyze the cognitive differences between PWS and typical individuals and particularly this difficulty with social cognitive measures. They're really not very good at understanding facial emotional faces and that's important to know, not only from a mental illness standpoint but from a social development. They may need more help in recognizing that that person's not angry with you or that person is angry with you. They sometimes can't and need a little bit of help in in identifying what a face is showing them. This study is ongoing and additional participants will be needed and the data analysis continues. We've already seen some interesting findings and expect some additional interesting findings.

Switching gears entirely (because like I said there were studies all over the place); FPWR has funded the development of a knockout model, a rat model that knocks out the MAGEL2 gene. This is a gene that is important in PWS. It's also the gene that's mutated in Schaff-Yang syndrome. Why did we make a rat with PWS and Schaaf-Yang syndrome? Because rats actually had—there are mouse models—but rats have a much more complex behavior and a lot more social interaction. Rats are a really good model for looking at autism. There's a whole battery of little rats with autism and because are actually rats playing- if you take juvenile rats and you put them together, they wrestle around, and they play and they're like little puppies. Sometimes when the autism genes are disrupted, that social interaction gets disrupted as well. It’s a good measure of those social interactions and presumably if we start looking at medications, that might improve that in our kids. This might be a model in which we could test, so this was the initial rat model. It’s being studied right now at Baylor College of Medicine and they're putting them through this battery of tests to see how they differ in cognitive processes and social interactions. What they found so far is that our little PWS rats they go up to their friends and they'll sniff them, and they don't engage in that rough-and-tumble play. That is typical. They do seem to have some deficits in that they have some other deficits and they're continuing to characterize these. They do seem to have some metabolic differences. Like our kids, they tend to be a small when they're born. It's early to say but they're doing a lot of work as far as do they have differences in their bones and things like that? This model will be good for looking at some metabolic changes and also good for looking at behavioral changes; and eventually for looking at potentially pharmaceutical interventions to try to correct some of those things. As I said the morning was a bit of a mishmash.

One other presentation in the morning was from Elizabeth Dykens, who I don't know how many of you in the audience know Elizabeth. She works with Elizabeth Roof at Vanderbilt and she is a fantastic resource for the intellectually intellectual disability community. She's been head of the Kennedy Center there at Vanderbilt University. She has a long history of caring for families and trying to figure out what family needs. She presented a really interesting model about families of individuals with PWS. They’re interested in the entire family, but they really focus mainly on the mother-child interaction, since that tends to be the biggest interaction in most families, but also in kids with disabilities. She's looking over the long term; what are coping styles that do best? She has a great appreciation for our families. She understands that having a child with a disability can be a blessing. Our children are richer in our lives. They teach us things that we never would have you known otherwise. They teach us to appreciate things that we might overlook otherwise. At the same time, it's a huge stress, right? Those two things can coexist and so her thing is about how do we improve the family situation, not only for the moms so they're less stressed, but also so the child has a better outcome? Her whole thing is that if you improve the family situation—if you have moms who are less stressed and less anxious—that the child is going to do better. For me, it's something that's good to hear so I think all of us can say that this weekend if those of us who are without our children, it's really all about doing better for our children. All of the dancing last night, it really will impact your child favorably. I don't know about the drinking but the dancing. They've developed an intervention (it's not specific for PWS) but we'd like to see it applied to PWS, a pure led intervention that community-based to de-stress (to reduce stress). Moms are looking at how that impacts the outcome of the child. I don't know how many of you saw the ARC, which is a national organization for people with disabilities. It recently did a survey and over the years (the past, I don't know 25 years) there's been a real shift from institutional (well, longer than that—50 years maybe). We used to institutionalize children with disabilities and obviously that's not good. What we've done now is we've shifted all of that home without appropriate support for the families. That's not really great either so I think her data is being used to support more support for families so that the children can have better outcomes and the entire families can have better outcomes. That was kind of a nice break from all the molecular science.

We then had breakout sessions in the afternoon and I'll just highlight a few of the talks that were given. For example, talks by Soleno and by Levo; you heard some of that when we had our clinical trial sessions so I don't need to go over that again, but I'll just highlight a couple of things. Dr. Tucci and Dr. Pace gave a talk about the drug Pitolisant, which some of you have heard about. It is a wake-promoting drug that is approved for use in narcolepsy in Europe. It hasn't been approved here in the U.S. yet but there's reason to think that it might have application to PWS. They're doing some interesting studies in a mouse model of PWS; the SNORD116 mouse model (which you may have heard of) and looking at how that drug impacts that PWS mouse model. That's important information for trying to move that drug forward to clinical trials in PWS.

A second study that was presented in breakout session one was from the group down in Florida (Dan Driscoll, postdoc). Fred Kweh gave that talk. We know that oxytocin has shown some utility in PWS but it doesn't seem necessarily to work strongly in every child. The question is what's the basis of that? Why do some kids seem to respond better than others? He's there looking at DNA variants in the oxytocin receptor as well as other genes that are important in that pathway and seeing if there's certain DNA variants that might be associated with better or less good response to oxytocin. It was a small study done on the samples that they did that phase 1 study on. I think it was 17 kids or something like that. It wasn't able to draw some sort of big conclusion since the numbers are small, but that information may be useful in larger studies moving forward that are that are using oxytocin. Maybe some kids need bigger doses because their receptors are less responsive, and some kids don't need as much. It’s part of this whole move towards personalized medicine, where understanding your DNA variants may help optimize use of particular drugs.

There was a study from the group at Saniona that we didn't have. We weren't able to include it in our clinical trials panel, but they have done a small study using their drug Tesomet. They did that study over in Eastern Europe and it was a very small study—about nine individuals with PWS. What they showed was that the drug does seem to have an impact on hunger and PWS, which is encouraging. They had a lot of drop out because the drug also caused some behavior problems. What they found was that the drug wasn't being metabolized in people with PWS the way it was in typical individuals. The good news is that they're interested in pursuing that and seeing if they can modify the regimen of giving that to individuals with PWS (so that they can get the benefit and not have the behavioral side effects). They've reopened a study in Eastern Europe to see if they can reduce the dose and get the benefit without the risk. We'll see how that turns out; if they're able to do that. I think they would be interested in moving forward with a larger study. It’s nice to see yet another drug on the horizon that potentially can impact our kids with PWS.

How many people in here have kids who have sent off their teeth to Dr. Reiter? Excellent. Me too. When Daniel had his wisdom teeth out we sent him.

[Slideshow of teeth]

I don't know if this is your kid’s cells or not but it's one of our kids cells. Those teeth are being used to make stem cell lines and being studied in the lab. It's a great way for the scientific community to be able to get some cells that behave like neural cells and compare PWS. Dr. Reiter looks at other chromosome 15 disorders,15 duplication, Angelman, and other disorders.

Another thing that we've been able to foster with FPWR funding is a collaboration between Dr. Reiter and Dr. Potts, who is looking at cellular changes in Schaaf-Yang syndrome and in PWS. Those cells; all the teeth that you guys are sending are being used by both Reiter and Pott’s lab right now. Two examples of that were presented and you don't need to know much except that this green blob at the top is a particular protein. That's how it's supposed to sit. It’s supposed to sit in the glob altogether and that's in a typical cell. This is a cell from one of our kids with PWS and you can see that those proteins, those endosomes—it’s a little vesicle and the cell are not all clumped together. What that is showing is that the endosomes (which recycle receptors up to the cell surface) are not behaving the way they should, so that's a cellular defect. It probably has something to do with why our kids are sometimes not as responsive to hormones as they should be. There's a clear difference here. It says that this kind of an assay may be useful to screen drugs if we can find a drug that makes the retromers recycle the way they're supposed to. That potentially would have an impact on the pathology of PWS. This is the first step towards developing sort of a platform for a drug screen potentially. That's one way that our kid’s teeth are being used. Another way is to do gene expression analysis. The Reiter lab is really interested in autism versus non-autism and we know in PWS some of our kids develop autism and some of our kids don't develop autism. Dr. Reiter’s question is what's the difference between those groups? He’s doing this extensive gene expression analysis. You don't really need to know that much except that these are kids with uniparental disomy who have autism and these are kids who have uniparental disomy who don't have autism. You can see the pattern of gene expression is different and that's the important thing. These are kids that have PWS by deletion and then these are typically developing kids. By understanding what genes are expressed differently between those groups you might be able to target pathways that make this more susceptible to developing autism. Eventually, that can provide the basis for a pharmacological intervention or for better understanding why some kids are at higher risk than others.


You guys should feel free if you have any questions, just pop up. The second breakout session was a lot of molecular science and that's good. The second breakout session was a lot of molecular science. Stefan Stamm—any of you who have had the pleasure of hearing him speak—he speaks a lot about RNAs. He's passionate about RNAs. I'm really glad he is because he gets really into the details of it and he is looking at the SNORD116 gene; how loss of that causes changes in RNA in other genes. That's moving us towards understanding the molecular changes in PWS and how we might correct those molecular changes. There were some studies from Dr. Yeo at Cambridge, looking at a deletion model of PWS. Our mouse models don't become overweight and he's developed a way that might help those mouse models become overweight. You need an overweight mouse if you're going to test drugs to reduce weight in PWS. We talked about Dr. Reiter. Dr. Muscatelli, another investigator from France, has been working for years on the oxytocin system and PWS and she continues to advance that work. We're going to be funding a collaboration between her and another scientist, looking at how oxytocin changes the neurobiology. There’s a lot of work going on there. Dr. Kurrasch is another investigator who we've just funded who is looking at inflammation in the brain and how that might be impacting PWS. There's a lot of hints that our kids have abnormal inflammation in their brains and if that might be something that's amenable to treatment. There may be ways to reduce that inflammation so she's trying to understand is that inflammation what's causing some of the problems of our kids developing this appetite? Are there ways that we can intervene?

The breakout session three was really about behaviors and we've had seen Dr. Dimitropoulos has talked about some of her studies here. We've heard from Dr. Woodcock and her student talked about that project. Also, we haven't talked about it in the family conference but there's more studies on vagus nerve stimulation and how that might improve behavior and PWS. That’s Dr. Holland's work, which is continuing and has shown some promise in adults with PWS who have temper outbursts as a way to reduce temper outbursts. They are continuing that work which is also supported by FPWR.

Finally, there was another molecular section; looking at some of the cellular models of PWS; understanding why hormones aren't secreted appropriately in PWS; understanding what the MAGEL2 gene is doing; what its normal function is doing (which is important if you're going to treat that). This team of young scientists from Harvard are developing this. All of these cell lines are for use for the PWS research community so they're making all of these cell lines with different deletions of the different genes. They're at Harvard so they've got a lot of resources. They're putting them through this pipeline that they have of doing gene expression on all of them doing protein analysis. They're making organoids of them. They were yelling. They're enthusiastic. They were like flashing up things like, “this is what we're going to do next week with 100” and I was like, “you know, you guys go at it”. They're going to make all of these cell lines. They are going to make them available to everyone in the research community. I think it'll be great to have a set of cell lines that everybody's using so there can be some consistency across the research groups. That was all of the oral presentations.

We then had a poster session. I think we have the agenda online, so you can look at all of the posters that were presented. There were a lot of posters from the drug companies that were developing different drugs and looking at the animal data and initial studies in new potential therapies, including a monoclonal antibody that might be useful in PWS. There’s a lot of work ongoing there which should make us all very happy.

Some more clinical work- looking at growth hormone; a new multidisciplinary clinic that's opening up at Children's Hospital of Los Angeles with another young smart investigator that I'm thrilled is joining the PWS field, Laura Pullan. She wasn't here but she sent a poster about using Pitolisant and her experience for using that in PWS. Then we had a couple of presentations from Dr. Haqq’s group at University of Alberta; looking at how diet changes thermogenesis (how it impacts energy use in individuals with PWS). All of you who have sent your poop off to Dr. Haqq- they've started analyzing that to see how the microbiome in people with PWS is different from normal and how we can potentially change that? There were some mouse model studies on sleep and lipid metabolism and how is that different in PWS; the melanin concentrating hormone (another pathway that's important in appetite regulation); then some more MAGEL2 studies. It's kind of a whirlwind.

Finally, a few studies on the caregiver predictions—many of you filled out the caregiver treatment preferences survey that was a 45-minute survey online. That was Dr. Bridges. Now he's at Ohio State University and those results were presented. That's actually that poster over there that's just been published. The important thing about that is it’s information that the FDA can use to understand what's important to our community; no surprises to us. Hyperphagia is what we want treated right? No shockers there but it was done in a way that was very rigorous. The FDA is representative of what our community wants so we need that kind of data. The registry was used by Soleno Therapeutics to understand what kind of medications kids are on. We were seeing more and more use of the registry by academic and pharmaceutical companies so get your information in there. Lauren presented some of the advances that she talked about from the last mental health workshop. How is it now? We'll have a test. I'll ask questions about that and you guys will answer. What questions do you have guys? If they're not online already they will be very soon. All the abstracts are going to be online. I think the agenda is there if you want to look at the titles, but we'll put all the abstracts online. The abstracts are not lay abstracts, they're written for other scientists but if you have any questions just send them to us and we can help you answer them. We try to bring you that research in many ways that are digestible. There is a website; there's PubMed, if you want all of the scientific work. For the clinic that would be the clinical trials page on the FPWR site, so everybody should be very familiar with that page I hope. You should look at it. It’s updated. Susan keeps it way up to date with any new studies that are coming online and that's both drug studies as well as non-drug studies (like the cognition study from Dr. Bearden, for example—all of that information is on the clinical trials page).

If you sign up for our clinical trials alert, we'll send you that information. Look out for our blogs. Whenever we see new findings we try to convert that into something that's a little bit more digestible and send that out in our blog so that you can understand all of the exciting things that are happening.

Participant:

As far as technology, what are some things out there for our school-aged children and as they age out of the school-age portion? I'm finding it difficult to figure out what's the best path to help my child to succeed? It seems to be a struggle. Every time there has to be a study we have to take time with OT, so if there's a way to find out from our vast community of people, what have they found helpful? What seems to be a good way to go forward (that way we can take that with us when we go visit them) and say, “specifically for this syndrome there has been- this study has found X?” The other thing is, I run into other parents, young parents (I'm kind of older) and they don't know about some of this stuff. They don't know that hippotherapy is really awesome and wonderful. I’m just totally surprised.

Theresa Strong:

I would say that we're really cognizant of that and I spoke the other day briefly about our clinical care program and the projects that we're trying to develop through that. One of the projects is to get a best practice of understanding the strengths and weaknesses of our kids and then putting that information into a form that can be helpful for educators. For example, we know our kids like motor, fine motor is difficult for our kids, handwriting; things like that. Gathering that information and putting it in a form that is based on scientific studies; what might be the best way for our kids to learn? I agree and that’s an area of need and we hope to get that underway soon.

Participant:

I agree with your question and I often ask that question several times, don’t I Theresa?  We make up a board of people that question all the time, how do we address all the needs of people going through all the stages? How far we've come over 13 years has been incredible. Number one, congratulations to Theresa for that. I totally feel your pain. I'm with you. One of the examples that I wanted to share personally; as we looked into studying diet, because I think there's a lot of things that can help—I've been pushing diet for years. How do we fix it through diet? Can we fix it through diet and some things can be fixed through diet and some things can't? You need meds, sometimes you don't. Because of those questions and that constant pushing and that collaboration, we now did a study and that study is revealing soon that carbohydrates are problematic for our kids. Maybe we'll take the next step and look at the modified keto diet. We’re constantly questioning. We're constantly looking at all the areas. The other thing is the Facebook groups. There's a lot of sharing. I've seen a lot of sharing on hippotherapy; a lot of sharing on different things like CBD oil or ABA therapy. I learned a lot about that today and after the ABA session I said, “how do we study that and turn that into an ABA for PWS (make it a research project)”? It's research-based so that we can then get insurance companies to pay for it and then roll that out in the school system so that we get the same benefits, like autism.

Susan Hedstrom:

Right. Two things:

1. Our clinical care program that’s one of the other projects that we’re looking at, and

2. The registry is great. In the registry we ask about all of these therapies and we ask if it wasn’t or was effective for your child? Did you think it helped them a lot or a little bit?

There’s another place that’s great to share that—on Facebook, but if you put it into the registry too, we can get a lot of data and then we can go back to the community and say, “X percent of people think hippotherapy has really helped their kids”, so we can get a sense of their kids and can get a sense of what's useful or not from the family perspective.  

Participant:

There is a packet of information, it’s through the Prader-Willi association. You can get a packet of information for schools, it’s called Schools 101 and it has materials you could share with the schools and ways that you can personalize information about your child. They can share it with everybody that works with your child and it’s a really valuable tool that you can get from them at pwsausa.org (https://www.pwsausa.org/).

Participant:

Thank you. I’m just wondering Theresa, is there any database or anything within your organization that has a parent needs search? So, for each parent that is part of it. You’ve got so many people that you're communicating with but each parent I've spoken to (quite a few)—they've all got different questions. I was just wondering if you're getting a list of the questions that the parents are asking in some way that will then give you a value rating of where to place the research or even how to fulfill that for parents. Am I making sense?

TS:

I think we're always seeking ways to get input. Yeah.

Participant:

They are so specific—the questions. That's what I'm finding is that people are asking very specific things and you can’t get those unless there's some sort of database of what it is that each parent is asking them; we'll have more of an understanding of what they're sort of the meaning, etcetera.

SH:

Right. I think I like that idea. We haven’t done anything like that except as part of the clinical care program. We do have a board of 12 families that are helping to prioritize those, but I like your idea of going out into the community and doing a text-based kind of data mining. I’ll have to think about that. I like that. We’re all parents and we integrate parents at every step and are always seeking input. I think we’re always looking for new ways to seek input as well, so that’s a great idea.

Thank you, Theresa. There is so much amazing research that’s going on right now and you all should be really excited about this. I know sometimes it’s hard to grasp some of these concepts but the work that was presented at the research symposium—it's transformative. It's making a difference for our kids. The collaborations that are coming out from that is really quite impressive. I encourage all of you to continue reading about the research that's happening. Stay informed, because this is the work that you are funding. You are making all of this possible. It's only because of you that we've been able to put together a research symposium of researchers with all this amazing work.

Learn more about PWS research at FPWR's 2019 conference

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Topics: Research Blog

Susan Hedstrom

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Susan Hedstrom is the Executive Director for the Foundation for Prader-Willi Research. Passionate about finding treatments for PWS, Susan joined FPWR in 2009 shortly after her son, Jayden, was diagnosed with Prader-Willi Syndrome. Rather than accepting PWS as it has been defined, Susan has chosen to work with a team of pro-active and tireless individuals to accelerate PWS research in order to change the natural history of PWS. Inspired by her first FPWR conference and the team of researchers that were working to find answers for the syndrome, she hosted her first One SMALL Step walk in 2010 and began the development of the One SMALL Step walk program which now raises over $1.5 million a year for PWS research.

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