OPENING

Future View Productions PCORI 2019 Annual Conference Making a Difference for Children with Progeria: From Obscurity to Treatment and Beyond Wednesday, September 18, 2019 12:13 – 2:30 p.m. ET Remote CART Captioning

Communication Access Realtime Translation (CART) is provided in order to facilitate communication accessibility. CART captioning and this realtime file may not be a totally verbatim record of the proceedings.

www.captionfamily.com

>> Announcer: Ladies and gentlemen, please take your seats immediately. Our

program is about to begin. Ladies and gentlemen, welcome to the 2019 PCORI annual meeting, making

a difference using patient-centered research results in the real world. Please welcome to the stage PCORI's executive director, Dr. Joe Selby.

>> -- that's not counting over a hundred PCORI staff. That means we've got over 1,300 people. That's about 150 more than we've had previously. You'll see the mix is much as it has been, about 40% researchers, 27% patients, caregivers, family and members of advocacy organizations and consumer groups. And a very nice mix of representatives of hospitals and health systems, training institutions, clinicians, payers and purchasers and industry. So we love this diversity. It's a little unusual at many of these kinds of meetings, but we feel we need it to plan and conduct, to think about and then to disseminate the best kinds of research. I should say, too, a lot more people will be joining us throughout these three days via webcast. You can get on or tell your friends back home to join us at PCORI.org/live. Also we're tweeting, of course, and the hash tag is #PCORI2019, all one word.

For us, as I said, it really takes all of us to do the best research, and that's why we love these -- these wide-ranging audiences. We include patients and other stakeholders to -- in the health care enterprise, even in our planning for the annual meeting and certainly in the discussants that we have. It's another reason for the fifth year in a row, we have officially been designated as a patients included meeting.

This is -- most years are, I guess, but this is a year of milestones. I'm going to tell you about a few of those. I always say that this is the best meeting so far. I'm always sincere. And I'll just say while you see the titles of these meetings, we started off with meetings in 2015 and 2016 where we were largely building up the vision of what PCORI and what engagement with patients and caregivers and stakeholders could do by way of research to help people make better health care decisions. So we were laying out the vision in 2015 and 2016.

In 2017, the word "results" was in our title for the first time. And we were so excited to present our first comparative clinical effectiveness research projects. And obviously made a huge deal about it. A year later, we have many more results, but we also had our first examples of where we were taking results and working with patients

and clinicians and systems to implement those results in the practice. And that's -- that was the fourth year. This year, I would say we've just about come full cycle now. We have many projects where we're implementing research -- research into practice on a large scale based on the evidence that's been generated. And that is what makes a difference.

So it's quite nice. We do comparative effectiveness research where we're always looking for differences. We're looking for those differences because in the end, we believe that can make differences for decision makers. You'll see this agenda this year is packed with -- with examples of research that's been taken all the way through to implementation. In fact, our panel later on today is going to have that.

So here's a few examples of just overall measures that you should be aware of. We have now given out $2.5 billion in research to more than 700 projects. Now, this is largely comparative clinical effectiveness research, but they're also engagement awards in there which bring people together to begin planning doing research and to disseminate research. There's also an increasing number of dissimilar nation and implementation projects. PCORI projects that are important to get out there into the public domain. Also in that 700 projects are what we call infrastructure projects. Many of you know of PCORI net, a national patient-centered network that PCORI has stood up and funded for about six years now.

Next slide, if we can, we have now a large number of studies that have been completed. Research studies don't happen overnight. Our average ones take over three years after they're funded. We have 284 projects that are not only completed, but their final reports -- their final research reports have been peer-reviewed by PCORI and placed on the PCORI website. You can find results of 284 studies. It's quite easy to search our website for them and there are fully now 100 complete final reports. We have to wait further on them a little longer, but there are 100 full final reports just like research publications except more detailed on our website.

All of these have been peer reviewed by PCORI. So we also have large numbers of publications. So 60% of the studies that have been completed, their primary results are published in the published literature. Everybody knows that publication in the New England journal or JAMA or wherever is not the end of the line, by any means, we've learned that. It also is very essential. You need it to move forward with dissimilar nation.

Another milestone taking place this year, 2019, is the consideration in Congress about reauthorizing PCORI. Since we got started in 2010, we knew we were headed toward 2019 and working hard to get a good story to tell about the value and involving patients and stakeholders and doing comparative effectiveness research brings. We are very optimistic about the fact that by the end of 2019, but we will reauthorized. And we are very grateful.

[ Applause ] We are very grateful to people -- congressional leaders, bipartisan congressional

leaders and their staff. Their staff have worked very hard with us to get us to this point. We're not over the hump yet. This still has to happen, but it certainly is looking good and we're optimistic. I really want to say because I know so many of you are in a room, individuals and people from organizations that have been with us, 130 or 40 organizations signed the letter and they're coming from patients and clinician organizations, payers and purchasers, employers. And certainly the research community and academic institutions all have signed on and have done a lot more than sign on. They've actually worked actively to speak on behalf of PCORI with their congressional representatives. It wouldn't have happened without all of you. I want to

say thank you. We look forward to reauthorization and be able to tell you with certainty that we are reauthorized. That will be a day that we have been looking forward to for nine years.

Also I think we've used 2019 in many ways back home at PCORI to sort of plan how PCORI 2.0 can be even better and even more effective at doing the things we aim to do. The last milestone is that, many of you know I announced I'm going to retire at the end of 2018, having stayed fully twice as long as I promised or expected. My wife has reminded me of that a few times lately. I'm not leaving because I've gotten bored or because of I've gotten tired of the science or engagement with all of you. It's been the thrill of a lifetime. But I do think this is a great time for me to move onto family and many other things I've got in the works. But it's really a great time as we move into PCORI 2.0, as we call it, to be refreshed with new leadership. So watch closely over the next several months, news will come out about succession planning at PCORI. I really credit our board of governors for just doing a remarkable job in this area.

And so I've talked already about the theme for this meeting -- this year's meeting which is effecting change, make change and making a difference. That's what you're going to hear about over the next couple days. I hope you'll get chances to meet and talk with others. If you're in the patient community, you'll get to rub elbows with researchers. Most certainly vice versa. From the pay error hospital delivery system or industry, that you'll get to talk with others from other sectors.

I want to close by just thanking everyone who's had a hand in this. Certainly many of our board of governors are here and many of them have been active and planning for this. People on our methodology committee. We have a wonderful annual meeting, steering and program committees. Many are in the room. We are immensely grateful to you. It's quite a chore and you always do a great job. And to so many PCORI staff. I won't go into all the names, but people do a remarkable job each year.

Now, it's with great pleasure that I'm going to call to the microphone Dr. Norquist from emery -- Emory University. He's going to talk to you about success planning in that sector or the PCORI board of governors as well. Thank you.

[ Applause ] >> Thanks, Joe. So on behalf of the board of governors, let me welcome all of

you to our fifth meeting. I mean, as Joe says, it's quite incredible that we're into our fifth meeting. I can remember the day we had conversations about having an actual meeting. The fact that we've gone through five and expect to have more is quite an accomplishment.

Joe's already noted about the diverse group we have here. I think you'll see that as you talk to people and meet them. Without you, we couldn't have this. We are really appreciative of all of you being here and supporting us, even those who are not here. There are a lot of people who can't make this meeting. I'm also pleased that many of my fellow board members are here. We have former board members here, which I hope to see soon. I saw one of them walking around. And our methodology committee members doing exceptional work to advance the science and the way in which we conduct our research.

Also in the room are the many members of the multi-stakeholder advisory panels who guide our work. I should ask the board members and the -- I can't see anything because these lights are blinding me, but if you would stand up. I'd like to lead some applause for all of these people who've done such great work for us.

[ Applause ] And now I'm going to put the PCORI staff on the line. So you can all stand

up. This is an incredibly -- I mean, this is just an exceptional group. I cannot tell you the

pleasure it is working with this group. I think you-all know that, but oftentimes they're not recognized. I think it's an exceptional group. Joe, the group that you've got, and I see a number of them here, has just been incredible pleasure and makes our work as board of governors just exceptional. I need to get you guys some applause here, too.

[ Applause ] So I've got to echo Joe's comments about how far PCORI has come in recent

years. We won't go back on the history of the excitement of the early days and all the stories and stuff. You can ask us those personally. What I think you'll see over the next few days is really an exceptional evolvement of what we've done. We're fortunate we've had such a great group of people who stuck with us. I'm going a little bit off script here. I want to second what Joe's saying. We're pleased and positive about reauthorization happening. And that would not happen without the support of our advocates and others who work with us who believe in what PCORI is doing. I thank you-all for that as well.

So let me, as Joe said, this is also a milestone for me. I've been on the board since the beginning. I've been in it nine years. Six of the last nine years I've been the chair of the board of governors, and so my turn is up. I'm also rotating off, which is good. I will remain on the board for the next year, and I look forward to working with Jean and her crew because I'm going to work on the implementation and dissemination piece of the portfolio, which I think is so important. The GAO has just announced a successor. It's important to have someone that's going to take over for me. Where are you, Christine? I can't see. I hope you're standing up somewhere. Christine has just been announced as the new chair of the board of governors. And that starts next week. I told Christine she could have it today, but she begged me to stay on for the next week. For many of us on the board, we have a number of other day jobs. I'm looking forward to going to my regular day job and a few others that I will continue with.

Did Christine stand up? I'm just going to clap for Christine. I hope you are clapping for her, too.

[ Applause ] Sharon Levine who will be the vice chair of the board is not here. If you see

Sharon, please track her down and say congratulations to Sharon. It's going to be an incredible team, I think, who is leading the board. As Joe says, we'll have more to say about the succession of who will be our executive director. We may have an interim executive director in the meantime. I think you-all be pleased when we can announce that publicly.

As you know, many of the sessions at our annual meeting have been certified for continuing professional education over the years. This year, we're thrilled that the Johns Hopkins university school of medicine is handling this task. So it's my great pleasure now to introduce Dr. Shawn from Hopkins who will tell you a bit more about this.

[ Applause ] >> Hi, everybody. I certainly want to echo Dr. Selby and Dr. Norquist. Welcome

to the fifth annual PCORI conference. I'm super excited to be with you today to learn with you more about strategies to make a difference using patient-centered research results in the real world. I'm a clinician and a researcher and I'm honored to serve as a CME activity director for this year's conference. I'm joined today by Dr. Annette Donowa and Rhonda Meyers from the continuing education office at Johns Hopkins.

I'm especially excited because this is the first year the Hopkins office of CME has the opportunity to partner with PCORI to assist with conference planning provide accreditation for this year's conference. If you have questions about obtaining CMEs, please connect with Dr. Donowa or Rhonda. Again, they're in the back of the

room. They'll be here for the entire conference. Tomorrow, they should have a table set up. They'll help guide you with the steps needed to obtain your well-deserved CMEs. Without a doubt, the PCORI staff and their partners have worked extremely hard to gone a content-driven conference with patients as the focal point. Never the less, we know there's always room for improvement in our approach to adult education and your feedback is critically important. Completing conference evaluation using the PCORI conference app is by far the best way to share your comments and suggestions so we can learn from this conference and your feedback will help inform our approach to adult education for next year's conference.

Again, we're super excited for the opportunity to participate in this year's efforts. I want to thank each of you for taking the time out of your schedule to be here today. Thank you for your efforts to improve patient-centered care and thank you for your dedication to lifelong learning. Have a great conference.

[ Applause ] >> So thanks very much, Gray, thank you for your comments and Shawn. Very

pleased to have your assistance and help with the continuing medical education parts of it.

As many of you know and remember, our keynotes have always been high points and treats. And we've typically started with a keynote that is focused on patients. And this year is really truly no exception to that. We are starting on patient-centered. It's going to be a wonderful presentation. There's one little twist this year, though. And that is like you'll notice, a number of our sessions, including the panel that follows this, we're having presentations by pairs, co-presenters. And this -- in this case, our opening keynoters are co-many things I would say. Among other things besides being co-presenters which they actually told me they haven't done all that often, they are husband and wife. And they are co-pediatricians. They're both pediatricians. And they have a compelling story to share.

Scott Berns is the CEO of the national institute for children's health quality and Leslie Gordon is a professor of pediatrics research at Hasbro children's hospital. She's also a researcher at Harvard medical school. Scott and Leslie co-founded the Progeria Research Foundation after their son, Sam. I bet many of you, this is not the first time you've seen Sam. Sam has been a star of stage and screen.

Sam was diagnosed with the rare condition of progeria in 1998. Scott is -- Scott, his dad, is also now board chair and Leslie is the volunteer medical director of the Progeria Research Foundation. Sadly, Sam died in 2014 at the age of 17. But not before he had really shared -- given of himself in ways that few people ever have the opportunity to do or do. And you can, to this day, I just was watching it last night, you can see and hear Sam in his TED talk called "my philosophy for a winning life" and "life according to Sam."

You see a lot of videos of Sam and Francis Collins from the NIH in conversation, which is really a thrill.

So thanks largely to the Progeria Research Foundation's support, the gene that causes this condition, this rare condition has been isolated and the first treatment developed. So the theme of our annual meeting, as I've already said is making a difference. If there was ever a story of how the lived experience of patients and their parents or caregivers and researchers came together to make a difference in the real world, this is it.

So it's my great pleasure to welcome to the microphone Dr. Scott Berns and Dr. Leslie Gordon.

[ Applause ]

>> SCOTT BERNS: Thank you, Joe. Hi y'all. How you doing? Welcome. All right. So when I saw that photo of Sam and us up there, it made me think about the fact that Sam was an amazing communicator. He never really had notes prepared for when he would speak at an event or when he would do interviews. The TEDx talk, he did write out notes, though. He did practice for that talk. But he would just get up there and wow the crowds.

I remember a time when he had to do -- he had to do -- he volunteered to do a radio interview early on a Monday morning before school. The bus was going to pick him up around 7:20 and he was going to get a phone call from a radio station. He was sitting in front of the television catches up on Sports Center as he was waiting for this call. He took the interview and then he just knocked it out of the park. Just incredible. So I'm going to open and, Joe, you're right, Leslie and I have only presented together a handful of times so this is a tremendous opportunity. I'm going to start. I'll hand it off to Leslie. I'm going to talk a little bit about my professional and personal connection to the work of PCORI and my deep support of its admission and vision. But I do need to show a few disclosure slides.

And so here's Leslie's disclosure slide. And my slide was in there. But just before that. So there we go. For full disclosure, there's my disclosure slide.

[ Laughter ] So -- so really it all comes down to these three themes. I think it's about focus

mission, it's about building core programs, and it's about collaboration. And these will be recurring themes through the journey that Leslie and I will bring with you, to you and show you in our quest to find the cause, treatment, and cure for one of the rarest diseases on earth, progeria.

Now, speaking of collaboration or stakeholders in PCORI lingo, Joe showed you the slide of those who are registered for this meeting. If I jotted down my numbers correctly, there are over 40% are researchers and just under 10% clinicians. I wonder how many of you would -- could -- if you had to categorize yourself within the stakeholder groups, how many of you had -- delineated which one? How many of you could have chosen more than one? That's a lot of people in this room, and that's an important message. I'm going to come back to that in a bit.

Now, what makes PCORI unique is that patient needs and patient voices, as you know, are the driving force and motivation for their mission and their -- our -- research or programs aimed at improving health care delivery and outcomes guided by you-all, stakeholders. Now, I also see this every day in my work as the CEO at the national institute for children's health quality or NICHQ. We are celebrating our 20th anniversary this year. We drive for deep sustainable improvements in complex issues facing children's health. We don't shy away from those complex issues in children's health, particularly in underserved and under resourced communities. We also don't shy away from and we're proud of tackling issues around health equity. Our partners and stakeholders, including public health professionals, nurses, providers, community-based organizations and the families this work most affects partner with us to come up with data-driven sustainable solutions that achieve better outcomes for children and families.

We work to improve the systems that support families so that every child achieves her or his optimal health. Whether we're working to develop comprehensive early childhood systems, improving hospital systems to better support safe sleep education and practices or developing pathways to connect more families affected by sickle cell disease with the care they need and deserve, the importance of elevating family voices to effect change is paramount in all of our work.

Now, NICHQ's work in rare diseases -- particularly sickle cell disease highlighted on this slide -- brought me to PCORI around four years ago. Now, my journey at PCORI started as a work group participant around sickle cell disease advising around transitions of care and pain management. I then became a proposal reviewer. This may sound familiar to some of you out there. I did a guest blog of the chair of the rare disease advisory panel Matt Chung earlier this year and NICHQ received its first ever PCORI grant just a few months ago around missed sickle cell disease appointments and the health model.

Now Leslie and I are here today opening the PCORI meeting. I want to say that this demonstrates to us PCORI's commitment to rare diseases, to have us up here giving this keynote. I want to thank you, Joe, and the entire planning committee and the board of governors. Which brings me to my family's story, our personal story, that also illustrates the themes that I mentioned earlier. Focus, mission, building core programs and collaboration.

So back to, you know, speaking about collaboration, for me, the stakeholder group I represent on the rare disease advisory panel are clinicians, but I could easily have been a family representative there, too. I definitely bring both perspectives, I think, to that group. So let's talk about Sam.

So Sam was born with progeria, a rare genetic condition that causes rapid aging. Now, we didn't know that when Sam was born. He looked normal at birth, but there were signs in the first year or so of his life that things weren't completely right. Issues with his growth, he had some skin changes that didn't seem entirely right. And -- now, as you know, my wife and I are parents who also happen to be physicians. And even though we felt something was wrong, people didn't quite hear us. They told us that we just knew too much. And what else? We were being overly anxious, right? Well, Sam lost his hair and he stopped growing. We were getting missed diagnoses, oh, he just has acid reflux. It was incredibly frustrating and upsetting.

But when we finally did get a diagnosis just before Sam's second birthday, we learned Sam had a condition with a prevalence of one in 20 million people in the world, that translates into one birth a year in the United States. We found that there were just a handful of scientists doing work in progeria. There was no research funding for progeria. We didn't know if it was a genetic disease or not. There were no treatment prospects, no place for families, physicians, researchers to go for help.

So what did we do? In 1999, just six months after Sam's diagnosis along with my sister-in-law Audrey Gordon and her husband, Rich, family and friends, he created the Progeria Research Foundation to find the cause, treatment, and cure for progeria. Our first board meeting was in our house in our living room around a table. I think I went out to get the treats to bring them in. That first year, I think we raised about $75,000. We were so excited because the biggest success was we were at a local festival and we were able to auction off a wood stove for a couple thousand dollars.

Now, early on, we identified some key programs on this journey. Key elements for the path forward. You can hear more about this from Leslie. In terms of collaborators, I mean, this is just what it's all about, really. Children and families and then all the other pieces that really need to come together because we can't do it alone. You got the basic science, the clinicians, the NIH, pharma and certainly donors to help us along the way. So you'll hear more about the science and our journey from gene finding to treatment and hopefully a cure in our lifetimes, but I'm going to spend the rest of my time talking about our son Sam and Leslie is going to talk about the science and a little bit about Sam, too.

So you heard from Joe about the film, the HBO documentary "Life According

to Sam." It was an interesting time. After the gene finding and we came to the first

treatment trial, in 2007 as a board and as a family, we were thinking how do we document this, how do we get a record of this, not even knowing what the outcome was going to be. The idea came up, let's do a documentary. We didn't know who would pick it up. I didn't know anything about documentaries. The first question was for Sam. Sam, would you participate in this. What do you think? I remember we were in our bedroom and talking about this. He goes, you know what, he goes I've looked up a lot of things and a lot of things in books and on the internet. There's a lot of negative stuff out there about progeria. Sad things. And I -- first of all, I'm not going to participate in anything that's sad or negative.

So we were lucky enough to be introduced to Shawn and Andrea, they were really interested in this film as ultimately was HBO, the president. Sam said I want to see some of Shawn and Andrea's work.

[ Laughter ] I said, okay. They did a film which had a pretty serious theme at the core. It

revolved around refugee children from Uganda who would experience really horrible things as kids. There's also a music theme in there, too. And I showed Sam -- we showed Sam the first ten minutes or so of that documentary. And he said, yeah, that's serious stuff, but the message is -- is on the positive side. I can work with them. But you know what, I can work with them, but I want to meet the president of HBO documentaries before I agree to anything.

[ Laughter ] So we're like, okay, this is the queen of documentaries. So we went down to New

York from Boston and we had dinner with Sheila and her staff, and it was just -- he was in, as Sam would say.

So the film actually Premiered at the Sundance Film Festival. It's a big honor for any film to get accepted, but certainly for documentaries, and it was January of 2013. We had amazing plans put together to go to Sundance. And the night before the Premiere, Sam wasn't feeling well. That night, we ended up driving to the hospital. We were in the emergency department. He kept telling them, you got to discharge me because I got to get to Salt Lake City. They said, no, no, you have to stay in the hospital at least overnight. As long as I'm discharged in the morning, we're going to change our flight to get there on time for that Premiere. Well, we didn't make it there in person, but I can tell you what happened there was pretty incredible.

So the nurses said, okay, Sam, we know you want to Skype in for the question and answers for the first world premier. They took their nursing lounge and made it into a little studio. And they brought Sam in there and he did the Skype Q&A after the Premiere with the filmmakers. It was really tremendous. So grateful to them. We're going to show you the short film clip.

>> I want you to get to know me. This is my life. Progeria is part of it. It's not a major part of it.

>> Told your son has a condition that there's nothing you can do about. >> People will say things like I don't know if I could do this. Yes, you could. >> My mom will keep working until progeria is cured. >> The reality of a treatment is here. And that makes everything else seem

possible. >> I didn't put myself in front of you to have you feel bad for me. I put myself in

front of you to let you know that you don't need to feel bad for me. [ Applause ]

>> SCOTT BERNS: Thanks. Thanks. So I'm going to wrap up shortly. But I need to tell you about the week that the film came out on HBO, which was the week of October 20th, 2013. It proved to be three months before Sam passed away, which of course we didn't know was going to happen then. That was an incredible week. The film came out and two days later, it was Wednesday. Two days later, it was going to be shown for the second time. That was Sam's birthday, October 23rd, and it was game one of the world series. And some was invited to go -- yes. It was the cardinals versus the red Sox and Sam was invited to be an honorary grounds keeper at the game. So here we are out on the field. Then the head groundskeeper said, hey, Sam -- he gave him a can of spray paint and said would you like to spray paint home plate. I was like wait a minute, he's spray painting home plate for the world series? He did such a great job. Can you go spray paint the pitching rubber now, too. It was so cool. We went up and watched the game and got the surprise halfway through the game. Of course it was her birthday. There I am taking a photo of the screen. You see me taking a photo of the screen.

[ Laughter ] So that was a Wednesday. Thursday, we flew here to Washington, D.C.,

because Sam was doing his TEDx talk, "my philosophy for a happy life" on Friday. It was a very busy week. Sam agreed to do that TEDx talk because he thought that was going to be the capstone on his resume for college to get into Brown or MIT, whatever other school he wanted to get into. I'm just going to show you the last minute for the TEDx talk. For those that haven't seen, I encourage you to check it out after the meeting.

[ Music ] [ Applause ] >> So hello, everyone. I'm Sam. And I just turned 17. So all in all, I don't waste

energy feeling bad for myself. I surround myself with people that I want to be with and I keep moving forward. So with this philosophy, I hope that all of you regardless of your obstacles can have a very happy life as well. Oh, wait, hang on a second. One more piece of advice.

[ Laughter ] Never miss a party if you can help it. My school's homecoming dance is

tomorrow night, and I will be there. Thank you very much. [Cheers and Applause ]. >> SCOTT BERNS: Standing room only crowd, thousand people. Sam goes out

there and knocks it out of the park. Since that time, over 60 million views translated into 34 different languages. It's the number two most viewed TEDx talk. I still don't know what the number one is because I do not want it to get anymore clicks, okay?

[ Laughter ] That Friday, we flew back home and Sam was a drummer. I'm wearing a drum tie

for those who can't see it. He was there for the homecoming ball game on Friday. He mentioned the dance on Saturday. There he is with two of his closest friends. He calls them his bros. Of course the next night, Sam made it to the homecoming dance. That was the pre-party for the big party.

I'll just wrap by saying before I turn it to Leslie that I think the proudest day of our lives or one of them for sure was the night that Sam got his eagle scout which was December of 2012. For those of you who have ever been in scouting or been a parent of a child in scouting or a sibling, another relative, it's incredibly hard to get the eagle scout badge. I made it to first class. That's really not that far in boy scouts.

[ Laughter ] But what Sam is holding up there, last quick story, is what he called the Phoenix

patch for the old colony council. He said dad, I really want this patch, it's really rare, but you got to find it. He didn't know I was doing this, and Leslie was encouraging me. I found it. I won't tell you how much it cost, but there he is holding that patch that he really wanted.

On that note, I'm going to transition to Leslie who is going to talk about the science, from having almost no information, gene finding to clinical trials and hopefully in our lifetimes a cure. Leslie?

[ Applause ] >> LESLIE GORDON: Wow. Yes. That was an amazing -- pretty amazing night,

day that Sam got his eagles. Actually, he was a pretty amazing kid. He was a great orator. I remember when we had the -- the Progeria Research Foundation had its first big fundraiser called "night of wonder."

Sam was like 5 years old and there was like 500 people there. This 5-year-old turned to me and said, it's okay, mommy, don't be service, they're all your friends. That's how he felt about everything. At 5, he got up in front of those 500 people, said hello, treated them that I can they're pals and all was well. Pretty amazing.

What I'm going to do is, I'm going to go with you through our journey from obscurity, knowing nothing, to where we are today and beyond in the future to more treatments -- treatments and the cure for progeria. I'm going to start by presenting the disease phenotype, what is progeria, talk to you about the study of genetic and biologic basis of disease, tell you about the essential core programs and collaborations that Scott briefly told you about, and how they've really been essential to jettisoning us forward and tell you about our clinical trials.

This is Rachel. Rachel was born, you see the first picture looking quite normal, and you see how as she grows up, she looks -- starts to look like she has progeria. And the last picture, she looks prematurely aged. She's 9 years old in that picture, and that was just a few more -- a few months before she passed away at the age of 9. Progeria is called a premature aging disease. It resembles aging in many ways. It's not passed down. It's called sporadic autosomal dominant and children live on average to 14 years.

Now children with progeria -- and I should say young adults somehow now because of our progress -- they look very similar to one another. Very similar in many ways clinically. They all lose their hair. They have global loss of subcutaneous fat. Have growth failure. Grow to a maximum of maybe 3 1/2 feet tall, somewhere between 25 and 35 pounds. They have skin signs, joint contractures and bone busy. Most importantly, children with progeria develop rapid premature atherosclerosis. They pass away from this heart disease. They get strokes and they get heart attacks. This is what we're after and this is what we have to attack.

Now, I'm going to go through our journey. I know that many of you in the audience have your own journeys. And what we are hoping to do today is show you ours so that we can demonstrate what we went through, there are other pathways. What really matters is that we help each other, share our stories and proceed at a much better rate and be more effective for each other. So sharing our stories is very, very important.

We started with nothing. As most people with their disease organizations, most people who have children with rare diseases, especially 20 years ago, would tell you for the most part there was nothing out there, right? So we asked, what are the programs, how can we jump start, how can we get this moving? So we started with the basic programs that we thought would help. We formed an international progeria registry where families, the children could be registered with their just basic information,

where do you live, how do we keep in touch with you, how do we tell you what's going on over time and connect you with each other. And their physicians would -- they and their physicians would submit some basic clinical information as well. At the beginning, we knew of just a few families with progeria. But today, there -- we have registered 162 children -- cases with progeria living today, residing in 50 different countries. Because the only way that we can help these families and help these children is to find them and create a community and keep in touch over time.

We created a cell and tissue bank because researchers didn't have the tools they needed. They needed the cells and the tissues to start research, start their research on great ideas having to do with progeria and have provided those cells and tissues to researchers in 23 different countries to date. We gave grant funding because of course you need to jump start somewhere with some kind of funding. We pulled this all together -- and I think this is really important. Every other year we have an international scientific workshop where everybody working on progeria, plus people that are interested in working on progeria come together. Now, there are clinical researchers and there are basic researchers. And usually -- I'm an M.D./Ph.D. so I know this -- usually these folks are sort of talking like this because they're training is different. They're talking over each other and not really understanding. In these meetings, they come together to speak to each other, to see each other's viewpoints.

And that's really, really important because we need both groups in order to be successful.

And very importantly, there are children and families at these meetings because scientists usually don't get to meet children with progeria, with this very rare disease, and they need to know who they're fighting for. It's tremendously impactful.

Now, I think there are two great examples of the impact of these programs and these meetings. One is whereas prior to Sam's diagnosis we had no experts in the world on progeria. We've developed a team of progeria world experts at Boston Children's Hospital through doing -- performing these clinical trials. And they along with families we've produced a progeria clinical handbook. It's about 150 pages, and now we can give this -- families contributed, these physicians contributed, every chapter, neurology, cardiology has a family-friendly reading section and a professionals reading section. It's meant for everybody in every country so they can use it to handle the clinical identification of progeria best. This chart shows you a little measure -- one measure of really how everything sort of has come together to be successful. Before Sam was diagnosed and into when we were creating these programs, there was maybe two or three publications per year on progeria. And they were mostly case reports. Now, today, per year, over 100 peer-reviewed publications on progeria coming out. And that is effective. That is really new research with new ideas giving us a pathway towards new treatments and cure.

Perhaps the most significant finding, publication was the gene mutation finding. So in 2002, we recognized that we needed to search for the gene mutation causing progeria, not totally knowing whether or not it was a genetic disease because it's not passed down. But we put together a team of about 20 scientists to search -- it's called the genetics consortium to search for the gene mutation for progeria and one of those folks was Francis Collins, the brilliant Francis Collins, who is also on the PCORI board. 11 months later, he led the charge to discovering the gene mutation for progeria, the cause of progeria. And this catapulted us into a completely new phase that I could not have imagined.

Everything you see in green are the things we -- the programs we initiated to push the field forward before the gene finding. What you see in red are the things we

could do after the gene finding, including a diagnostics program so children, many of whom were misdiagnosed, would no longer be misdiagnosed and diagnostics could come as quickly as possible and this would give us a lot of information for clinical trials, including mouse models that could now be created because we knew the genetic mutation. That's so essential to testing potential new treatments. This is Lamina A is the protein that is mutated. The normal LMNA functions as a nuclear membrane protein. It's important for the structure of nucleus and it's important for the function of nucleus. It's a very important protein, and it is mutated, altered in progeria. How is it altered? One single base. What you see on the top in red is the T. In the middle you see a C that turns into a T. In a billion letters in your DNA structure, this is all that happens in progeria. What it causes is a splicing mutation. You end up with a protein we call progerin that is short and toxic. What you see on the bottom right, that little stripe in the middle of the two big stripes there is progerin. It's only present in the child. Not in the mom M, not in the dad P. So we found a brand-new protein that nobody knew existed before. This gave us tremendous information and a bridge to understanding a lot more how to combat this disease and how it relates to aging.

So is progeria really aging? Figmentally, but is it connected to aging. I was never convinced. I wanted biology. Now we had the tool for that. We searched and asked whether we all make a little bit of progerin. It was only a single base change that made lots of Lamin A abnormal. Couldn't we be making some progerin as well. And in fact, we do. On the bottom right, every one of those red dots is a cell that expresses progerin in the forehead biopsy of a 93-year-old. If you look at a 10-year-old, you see black. You see nothing. What you see on your left is a study where we checked the vasculature of aging individuals. It's in the aortas, your blood vessels. In this study, it increased by 3% with each year that we live. So it's there. Of course it's about 100 fold less than it is in children with progeria. To me, the biology, the link to aging was so important. I didn't want us to be studying something that was leading us down the wrong pathway. That's a tremendous waste of energy. But it's not. We have links. Each field can inform the other.

The other -- one of the most -- this is incredible. By understanding that Lamin A, 20 years of research had gone into this Lamin A protein before we discovered it had anything to do with progeria. And we knew that Lamin A is actually produced as a pre-protein and has to go through processing to become a mature protein. So that's what you see on your left. Progerin has to do the same thing. It's produced as a pre-progerin and has to be processed to become a molecule. At one stage of that, the first one uses an enzyme called a farnesyltransferase. There were drugs already being developed for certain kinds of cancers that would shut down that enzyme. They're called farnesyltransferase inhibitors or FTIs. And the one we name there is called lonafarnib. So we had this potential to repurpose a drug that wasn't approved, but that was well-developed and in clinical trials for children with other -- with cancers, certain kind of cancer already.

So we went back to the drawing board and said, okay, let's do the basic science for this. We have the mouse models, we have the cells, we know what we're doing a lot better, does this work. And it turned out the answer was yes, yes, yes. On the top what you see in the middle picture is nucleus of a cell with progeria, with lots of progerin. It's malformed. When treated with an FTI, the cells normalize their shape.

In the middle, you're looking at a graph that shows you that the new mice, new progerin-producing mice when treated with an FTI lived about 20% longer pushing to the right of this survival curve, the black lines, living longer. On the bottom, you see blood vessels in a mouse model of progeria. In the first box, looks empty, it's a sick

vessel. The middle box which is a treated animal, the blood vessel shows a lot of green, which shows that it's healthy. The last box is a mouse without progeria. The middle box and the last box look very similar to one another. So we felt like we had what we needed to go to clinical trial as far as this evidence goes. But simultaneously, we were looking at the natural history of disease and asking if we had a parameter, an -- we call them outcome measures that we could use in the clinical trials because the worst thing that could happen is if you have a drug, you give it to the children, but you're not quite sure if it works or not because you didn't quite know what to follow. We went back to the drawing board simultaneously and looked at the natural history of disease. What can we follow objectively in a reasonable amount of time to ask the question: Does a particular drug work?

And that was our challenge. It's not sexy. It's not exciting, but natural history studies are absolutely essential to understanding whether your drug works or not because the worst thing to happen, hmm, I don't really know, and you -- a clinical trial is a huge endeavor. So we did a couple of things. We used one of our programs that we had already developed called a medical and research database. We looked at many collated clinical charts for the children, and we collaborated with the national institutes of health clinical center on a natural history study of progeria. What we came up with for the first -- for our planning of the first clinical trial is rate of weight gain. We saw that it was very low. What you're seeing here is a typical growth chart, third percentile and the dots on the bottom are the children with progeria. They've fallen off the curve and they do it in a steady way so we would know if we were able to push that up towards normal because we knew where we were going with it. This is what we used for our first trial. We implemented that trial, the first ever clinical trial for children with progeria at Boston children's hospital in 2007. And we brought children in in pairs from all sorts of different countries throughout the world. And we brought them in in pairs because it was a tough week. Blood draws and cardiac tests. We were studying the natural history of disease in progeria at the same time as we were implementing the clinical trials because we knew we needed to know more and we wanted to get to cardiac outcome measures for future trials. And maybe bone and other things.

So we brought them in. It's just so symbolic to me of what we all really need. We need to work together. And these children were together and their families were together. And their participation and their courage was totally mind-blowing. Every time I see a child walking down the hall at the hospital during a trial, I fall in love again. And I say, oh, this is the cutest child I've ever seen in my life, until of course the next week.

[ Laughter ] So they are our inspiration. They are the reason we can do this, and their

courage will definitely bring us to treatments -- more treatments and to the cure. We've conducted four trials so far. Since 2007 every year consecutively we've been treating children with progeria with lonafarnib, the FTI, and in some cases, in some trials, adding on other drugs to ask ourselves is the combination better. And what did we find in this first ever clinical trial where life according to Sam, that filming is based on this trial.

We succeeded in producing evidence of an improved rate of weight gain and we also succeeded in looking at a decreased cardiovascular stiffness, which I'll explain in a moment, and improvements in bone structure. So along with the rate of weight game, some secondary outcomes, things we were exploring along the way at the same time as implementing the clinical trial included a decrease -- children with progeria have very stiff vessels and this is a big stressor on their hearts and a big contributor to their cardiovascular disease. We looked at carotid femoral pulse rate velocity. A higher

number means your vessels are stiffer. At the end of the two-year treatment, these children came down significantly in that pulse rate velocity. White means stiff. After two years, they pushed over towards normal. At the end of therapy. Again, sort of -- a visual of vasculature that was less stiff. We were blown away. We thought this meant that the treatment was working. We went to the FDA and had a meeting and said, well, we've got rate of weight gain, cardiovascular parameters, is this enough to submit this as a treatment.

And the FDA said to us, well, you know, even though a pulse wave velocity is an important measure of vascular stiffness in the adult population, a decrease by even 1 meter per second translates in adults with cardiovascular disease into fewer heart attacks and greater survival, it's not established that way in children with progeria. So, no, this isn't enough. And so we left and we said, okay, back to the drawing board. And what did we do? We -- we decided to go and investigate survival. And even though the clinical trials themselves were open label because we have a fatal pediatric disease and wanted everybody to have the drug and an opportunity to potentially benefit, we went back to our registry and looked at -- at a control group comparator. The unglamorous natural history, the first thing we needed to do was go back since 1999 into our registry and understand what the -- what the survival curve was for children not treated with lonafarnib, not treated with any trial drug, and produce this really nice curve. And if you have a curve like this, you can then ask whether you're pushing that curve sort of over to the right and helping with survival. And that's what we did.

The line on the top, the red line is -- in that first trial, children treated with lonafarnib, and the blue line below is children -- the comparator group not treated with lonafarnib. Each time you step down, a child passed away. There was an increased survival by using lonafarnib. I'm happy to say that we are collaborating with a company called Igo biopharmaceuticals to submit -- to work towards submission of lonafarnib to the FDA and the European medicines association for potential approval. So really -- really exciting time for us. I've explained to you that we have these outcome measures. What about the future? We're always thinking an the future. Every time I meet with families, I tell them this is -- this is about you, we're always going to be here for you, we're always going to be fighting for you. Lonafarnib is great. What lonafarnib has shown us is that we can push this disease towards health. But it's a treatment. It's not a cure.

The children still look like they have progeria, they're still dying early, we need to do better. And to do better, we need a couple of things. And the first thing to think about is those outcome measures. We're looking now -- because survival has already been used, we're looking on the biomarkers. The biomarker we've started to develop is the most obvious one, progerin. We need a way to measure progerin that's not only sensitive and specific, but could we find progerin in a biologic tissue that we could get from the children. They're not mice. You can't just take all sorts of tissue specimens. So we searched for this. We looked in the urine. We weren't successful. We looked in the blood cells. We weren't successful. But then we looked in the plasma and serum, and boom, we scored. We were successful. Again, just like natural history, this isn't glamorous. It's crucial. We have been accepted into the FDA biomarker program and we're excited about that, too. So stay tuned on that one as well. Where are we? We're in the middle. We have potentially our first treatment, but we're far from finished. We know a lot of research is going on for new and repurposed drugs. That's fantastic. We are really optimistic about some of our research studies using RNA therapeutic and also genetic editing, crisper Cass and others. What we need to do is just work on additional treatments, but the cure, to me, getting ready of progerin

altogether, to me probably lies in the last two more focused either RNA therapeutics or genetic editing. I see the fields moving very quickly and I know that we have the resources, we have the collaborators, we have everybody we need fighting for these children.

So in 2012, I think -- I want to -- I want to tell you that Sam used to say things much more succinctly and much better than I ever did. In 2012, Francis Collins was asked to give a Ted Med lecture and asked Sam to come on stage and chat with him. In his words, I want to show you what he said.

>> Researchers here in the auditorium and others listening to this, what would you say to them about research on progeria and maybe about other conditions as well?

>> Well, our research on progeria has come so far in less than 15 years. And that just shows the drive that researchers can have to get this far. And it really means a lot to myself and other kids with progeria. And it shows that if that drive exists, anybody can cure any disease and hopefully progeria can be cured in the near future.

>> LESLIE GORDON: Pretty awesome, right? Amazing. So -- so I always end with a -- with a picture of my kid, my guy. He's -- here he is. I know it's football season. So very exciting. Loves sports. He's giving a pep talk to the New England Patriots about their next game.

[ Laughter ] When Sam was asked -- because people ask kids this all the time, who was your

favorite player. He never would list a favorite player. He really felt this way. He said it's not about any one player, it's about a team. You have to have the whole team to win. How translatable is that to what we're doing? With that attitude, with that in mind, we will find the cure. Thank you very much.

[ Applause ] [ Applause ] >> Well, Scott and Leslie, I -- if Sam were here, I think he would say that you hit it

out of the park. That was -- that was just amazing. We spend a lot of time at PCORI bringing researchers together with patients and caregivers. And here we have researchers together with patient and caregivers in the same individuals. You're such a demonstration that it's an important and beautiful combination. Really grateful.

We have about -- we have about 25 minutes for questions. I swear, those -- I'm looking for the waving lights. That must mean there's a person out there. I'm going to take the prerogative and ask one question because I bet it's on the minds of a lot of people out here. Sam is obviously confident beyond his years, wise beyond his years, compassionate beyond his years. Is this a product of premature aging? Is -- do you see this in other kids with progeria?

>> SCOTT BERNS: Want me to give the scientific answer and you'll give the -- I'll start by saying, yeah, I think all children with progeria with witty, intelligent.

>> LESLIE GORDON: Fabulous. >> SCOTT BERNS: Fabulous, yes. >> LESLIE GORDON: It's not -- it's not an aging response. But the children with

progeria are really fortunate in that they have no cognitive impairments. And so although the disease affects the blood vessel supplying their brain, it doesn't affect their cognition and their brain tissue -- their brain itself. So they're just quite fabulous, I have to say. Is it progeria that does that, I don't know. But I'm impressed by every single one of them.

>> Thank you very much. Okay. Now wave those magic wands again. Okay. There's a waving over here.

>> Matt Chung. Currently retired and also the faculty member of university

Pacific school of pharmacy. I'm also the former advisory panel as of Monday, former chair. Thank you. Thank you for spending time with me, too, about the transition into the new handle of it. Your story is so inspiring about this, what I'm going to say, and I have belief in. Which is rare disease is not rare, just precious. Just like your son, Sam, is so precious. Not just to you, but has proven to the rest of all of us. Because what you just shared, the story about what I always believe in, rare disease is a window. It's not my words. It's the word of the 2000 institution of medicine talk about why we study rare disease, a window and the eye of what is happening in our body that can affect so many of us.

And that's why we really need to focus on rare disease. Because it can lead, you know, in your situation, to understand of aging as with a lot of other examples. So here comes my question. Sorry for the long -- but my question is that what would you recommend for PCORI to do in terms of rare disease? As a panel, we struggle for several year. So thank you.

>> SCOTT BERNS: I'm on the panel, so -- yeah. I really think there's an opportunity to do even -- Matt's done a wonderful job. Let's give Matt a hand for the good job he's done.

[ Applause ] We had a meeting earlier this week. I think the whole notion -- we talked about a

collaboration. There's a lot of work -- more work that can be done, I think, in not only cross-sector collaboration, but identifying perhaps common measures across the -- this is a tough one -- across rare diseases that might be helpful. So how can we be unified as a rare disease community, one in ten in this nation, around both. So how do we work more closely with organizations like NORD and the office of rare diseases and so many others, not to step on each other's toes, not that that's been happening, but really to raise rare diseases up. As Matt pointed out, learning things in rare diseases not only helps us and families with rare diseases, but potentially all of us. That's another challenge I'd like to see us take on.

>> LESLIE GORDON: That was great. >> Thank you very much. >> JOE: Matt did essentially end with a question. It's not essential to have a

question mark at the end of your statement, given who is in the audience. Okay. To the left.

>> Hi. I'm Jennifer, the founder and director of the necrotizing society. I lost my son to it. I know how difficult it can be. I appreciate you sharing your story and how not everything ends with a happy ending and we can still create meaning and impact from it. So thank you. How do you find these families early on in their journey, not just in the U.S., but globally?

>> LESLIE GORDON: It's a fantastic question. It's a huge question that we struggle with all the time. You saw the map. We know the prevalence is one in 20 million, so we know where the children should be and we know where we're not finding them. We do a lot of things. We -- some of it's reactive and some of it's proactive. We try to be proactive, but it's also -- so the worldwide web, being out there, create -- publications help. All of these programs producing all of these things to get the word out, you know, writing chapters for textbooks, I think they teach -- I didn't learn about progeria in medical school at all. They teach progeria in every medical school across the country and in lots of high schools and middle schools and primary schools now. So that's been part of it, sort of getting out there and having it sort of trickle in as much as we can and just staying out there to try to find folks.

Also, we have campaigns. The progeria foundation is starting a campaign in

India and China where we're missing most of the children. So getting out there and trying to be proactive. It's not just about getting a story in the newspaper. I remember early, early on we had some blurb in "People" magazine, I thought that's going to be so much, but they never told people where to go for help. Getting out there where we can control the message and say, there is a place for you to go. Understanding the different cultures and the different pathways in different countries --

>> SCOTT BERNS: It's a challenge. >> LESLIE GORDON: It's a big challenge for everybody. >> Thank you. >> JOE: To the right. >> Hi. I'm director of autism genetics lab in children's mercy hospital in Kansas

City. This is the fourth year I'm attending this PCORI meeting. And you may ask why someone like me with this research background is

here. The reason is that I'm a big believer of thinking outside the box and also collaboration and like many other colleagues in my field and other research disciplines, I find it very frustrating that despite the fact that we have made a lot of important discoveries, gene discoveries, but we haven't made enough progress with respect to translating those into improving patient health. That's why I find the mission of PCORI fascinating. And I kind of impose myself to this community the last four years and I try to educate myself and learn how -- how can we make a bridge between basic research and also autism research.

I have to say quite honestly this year I was debating should I continue coming to this conference because honestly, even though I'm relatively good in networking, but I find it little bit frustrating to find people who understand also my side as a basic researcher. So thank you very much, Joe, and thank you to the organizer for doing this fantastic -- organizing this fantastic meeting and also of course such a moving keynote talk. I cannot thank you enough. I mean, it change me as a basic researcher. And I would like to end by saying that even though your amazing journey that you kindly share with us is focused on rare disease, but as a researcher working on common disease such as autism, I kind of see the same struggle because I think we are dealing with such a heterogenous complex condition that we need to find ways to dissect it into several unique, and who knows, maybe rare conditions within this common condition. So I really would like to talk to you after the conference and see how we can learn from your experience and make improvement in common diseases.

>> LESLIE GORDON: Thank you. I love your comment about thinking outside the box, and I love your comment about bringing basic scientists and clinicians together to bridge that potential gap that doesn't have to be a gap. So thank you.

>> JOE SELBY, and I can't see you, but I remember the conversations in previous years. We've had conversations about should basic science be patient-centered and should there be a basic engagement in basic science and we concluded yes. So good. Next wave. Twitter. So we addressed this question once, but it -- it cannot be addressed enough. So what can PCORI do to help you go quicker? I -- I heard you say, Scott, that you just received an engagement award. I just want to mention the engagement award. When we get reauthorized, we have a wonderful program in engagement awards which brings people -- go right ahead. Yes.

[ Applause ] How many? There must be 200, 300 -- more than 300 awards we've made. Do

you want to say a number? Okay. More than 300. [ Laughter ] And they do things like this. So they can be one way of helping things go

faster. Another shot. >> SCOTT BERNS: Yeah, I mean, so that award I mentioned was actually

NICHQ and not Progeria Research Foundation. But I'm glad you said that because I think there's more we can do together helping through the rare disease advisory panel as well to get the word out about those opportunities. I mean, I think that we can do better together to raise awareness not just in rare disease organizations and for those with rare diseases, but for everyone out there about the resources that PCORI has. I think that is really important.

I want to go back and make one other quick comment. As Leslie eluded to, there are other amazing stories out there. Probably some of you in this room, too, could have been up here and doing this presentation. And I think that if we're going to move the field more quickly, that we really do need to make ourselves available to each other. And, you know, we -- in many ways we've been very fortunate to -- to find this path. It was a lot of hard work and two steps forward, one step back, sometimes two steps forward, two steps back. These opportunities like this PCORI meeting is important for us to connect.

>> LESLIE GORDON: Life is different than it used to be. This is part of what the PCORI organization is doing. When we started, there was nothing. Now when people come and say, well, we built -- just an example, our registry, these are things you can outsource now and get extremely high quality without being a scientist. The national organization for rare diseases saw that foundations needed the registry tool and has created that for everybody, anybody that wants to partake and have a high-quality IRB approved registry. There are places you can own now and sort of guide. PCORI is a great example of this. Many more organizations and tools. And we can all come together and do more together.

>> SCOTT BERNS: And help to get the word out those exist. >> JOE: >> Hi. My name is Jacqueline. I'm a rare disease patient. I have a rare form of

congenital heart disease. It's only been diagnosed, according to my doctor, in one in about 17 million people. So I'm really, you know, thrilled to see you here today, and I really appreciate all of the great work that you're doing and you're such an inspiration for myself and other rare disease patients. You're just a great model for research in general for all types of diseases.

So I served on the inaugural PCORI rare disease advisory panel. And I'm also a PCORI American heart association ambassador, and just recently appointed to the FDA as a consumer representative for one of the panels on cardiovascular disease. I noticed that a lot of the research efforts and organizations that are spearheading rare disease research are typically started by patients who actually have rare diseases. I wanted to know, what is your best advice to a patient like me with a really rare form of cardiovascular disease in reaching out and sort of -- you know, you have to kind of wrap your arms around the world in a way to find enough people to help to inspire and encourage researchers to do more research in certain types of rare diseases. There's 6,000 rare disease affecting 13 million people.

A lot of people don't know this, some of them have more people. It's easier to get research funded when you have a lot more people in the rare disease group that you're targeting. What would be your best advice to a patient like myself and to others who are trying to spearhead rare disease research?

>> SCOTT BERNS: Wow. Thank you for the question. I think that it's that passion to -- channeling that passion to reach tout to folks like us and others to help you with ideas. So for me, I think that leaning on your friends and family -- close friends and

family to start, I don't know if you said you were a health professional or -- >> LESLIE GORDON: You don't have to be. >> SCOTT BERNS: You don't have to be. [ Laughter ] It helps. Finding someone who at least could advise you on the research and/or

clinical front. Leslie has been described -- I'm going to say it. >> LESLIE GORDON: No, no, no. >> SCOTT BERNS: All right. I won't. [ Laughter ] >> SCOTT BERNS: Can't say as a barracuda? [ Laughter ] To be really aggressive about how to find people out there -- I'm in big trouble. [ Laughter ] Who may already be doing research in that particular disease. It is an uphill

battle. And the key is not to give up. That is just my -- >> LESLIE GORDON: You will find people to help you. Yes, do you have to

pound the pavement, yes. Look at -- you're here. You have energy. You have -- [ Applause ] >> SCOTT BERNS: Yes. >> LESLIE GORDON: You have what it takes. You have what it takes. I agree

with Scott. Reach out to organizations, not just ours, but there are lots of organizations that can give you great advice and help you on your way. I have every confidence that there are people that will help you.

>> I look forward to talking with you. >> I understand there's a question in the far back. There's actually -- suddenly

there's lots of lights. Is there one in the back. >> Yes. Hello. I'm an education doc. I'm in Los Angeles. We're at Charles drew

university in medicine and science and we're community faculty. So we're that bridge between the community, the researchers and the academic world. So my thing is I only had one student 20-something years ago that was diagnosed with this disease. And back then, they just told us that aging disease. And me trying to explain to my other students about my student -- other student's condition was hard because I had no information. It's 20-something years later and I looked at your story and was able to go -- because I didn't even have a name, and was able to go and research. Because everything you talked about, I had researched and saw it. Even seeing the two researchers with the name. So I'm happy that your story is out there because us as educators, we had no clue. The district didn't tell us what this was and what was really going on. We just cared for him. You know, he passed and it was heartbreaking. I'm glad that your story is here for us to see and for us to learn and for us to transfer that information. Right now, too, I adopted a senior into my family. We just finding out that she has two rare diseases. Hereditary enosis and something else. Right now, I'm trying to help her to navigate this because I don't know anything about this rare disease. The pharmaceutical company came to us, they know in L.A. we are the community organization, the community team that's doing -- bringing everybody to the table.

So now I have the opportunity to help work on this disease she was -- she's been diagnosed with. So I'm happy that you guys are here and you bring in the information so that we can carry, you know, the ball and to help with the conversations.

>> LESLIE GORDON: Thank you. Thank you very much. It's wonderful that you -- that you're here. You know, it's really interesting the things that you're saying, that Progeria Research Foundation has an extensive website. I have to tell you. My sister,

Karen, she learned HTML so she could create the website. Talk about home grown. She's still doing it today. She's awesome. We have this great website. It has over a hundred pages of information.

>> SCOTT BERNS: Including a curriculum. >> LESLIE GORDON: Exactly. You read my mind. There's an educational

curriculum available through the Progeria Research Foundation to teach kids of any age about progeria. And also in the clinical care handbook, we have whole sections on handling school. We have parents, educators, we got -- we asked them to submit all of their comments and experiences and put those together as sections in the handbook. So hopefully that information is really useful and that pattern might be able to be followed hopefully by other rare disease organizations.

>> Okay. I'm afraid we have exhausted our time for questions. I want to say to the last person who just spoke, I'm really glad you mentioned the community. One thing I'd bet you agree on, it does take a village, whatever the condition. Secondly, when you include the village as patient peers, caregivers and family members, it actually improves a lot of outcomes for a lot of patients across a large number of conditions. I think one of the things PCORI has helped to uncover is that illness is part of the human condition and other humans, certainly the scientists, but certainly others in the community can do a lot to rationalize the care compared to the -- you know, the vendor-client relationship alone.

So with that, I was going to wish you two a very nice evening many Washington. But now that you're in the doghouse, Scott --

>> SCOTT BERNS: I'm going to dinner with you. >> I'll just say good luck. This was really a -- a completely inspiring, knock it out

of the park keynote. I want to say one last thing. We have a former keynoter from this very kickoff session, Freddie white Johnson from the cancer foundation in greenwood Mississippi is here visiting today. Two years ago, she knocked it out of the park. You did the same tonight. We're extremely grateful.

[ Applause ] One of the smart and wise things that the planning committee does is it gives us

nice space to talk and interact with people. So we have 30 minutes now. You need to be back in your seat at 3:00 for a fascinating panel on personalized health care. You have 30 minutes to meet new people, say hello to old friends and have a good time. See you then.

[ Session concluded at 2:32 p.m. ET ]