There could be as many as 400,000. People with down syndrome are here to stay. Now, many may have thought it was impossible, very difficult to reverse the ill effects. This often is not true. More than doubling of the Life Expectancy was due to interventions, getting people with down syndrome out of institutions and get them some standard medical care and surgery with those with a heart defect and those with hypothyroidism. Im sure people will live onger, better lives. Regardless, down Syndrome Research has been underfunded. And the condition that cannot fit under the scope of the institute but the bulk of the research has been funded by the National Institute of Child Care Health and development. To advance our understanding of alzheimers, cancer, leukemia, conditions and much more, i think the time is right to think of an initiative to investigate this condition both in many, many institutes at n. I. H. Now the concept of congress and n. I. H. Working together on an initiative to address an emergent medical problem is not new. Back in 1998, congress and n. I. H. Worked swiftly to create an office for aids research. This was in the face of the imminent hivaids epidemic. They created the office for aids research. It orchestrates a large portfolio, crossing the boundaries within n. I. H. Within a few years, the new cases of aids started to decrease. They continue to decrease. Today it is less than a third than it was in the 1990s. Now. In congress, when cork kong worked with n. I. H. To create the office for aids research, there were a fewer than 100,000 of aids in the United States. There were more than 150,000 people with down syndrome. Today the office of aids research administers 3 billion, thats 150 times more than the down Syndrome Research. How much longer should people with down syndrome wait to receive the share of the share of medical research . How many i think the time for action is now. People with down syndrome to participate in research for their own benefit, of course, but also for the benefit of the rest of humankind. Thank you for hosting this historical hearing and allowing me to testify. Thank you very much for your testimony. [applause] move next to you, dr. Mobley. I just want to say, im sure you are aware of this. When we decided to do this hearing, of course one of the first people i talked to was pete sgses sessions and he immediately said, this is the guy you have to have. You have to have dr. Mobley and come and share. Were delighted you took the come and youre recognized for remarks you ng want to make. Dr. Mobley i want to thank you for the opportunity of talking about down Syndrome Research. I want to make the case this is an enormously positive time in our history in science. We have the power to really understand the genes and mechanisms that cause the problems people with down syndrome have and we have that same power to understand how to prevent. They are going to teach us a lot. Theres absolutely no one in this room that should ever have to suffer from alzheimers disease. Were all there. All of us are susceptible to this. And i am going to make the case that an investment in research in down syndrome is going to make it possible for not just those people with down syndrome but for all of the rest of us to avoid it. How about a world with no alzheimers disease . My argument is if you want that to happen, and we all very much do, one should encourage a very robust investment in research on down syndrome. We can prevent it in those folks and i think because of the work we do for them we can prevent it in all the rest of us. I have a number of other comments but let me just quickly say how pleased i am its a new day for down Syndrome Research. When i had started in this, my colleagues told me, do not study down syndrome. Please dont do that. You are going to ruin your career. And why . Because its too complex to understand, too difficult to study and treatments will come too late. Those are not true. Those statements are all false. Were showing increasingly that in spite of the complexed biology of down syndrome and it is complex genes and mechanisms causing adverse effects are being discovered. Treatments are being defined and one can constantly forecast the emergence of successful therapies for children and adults. But we have problems. There are a lot of unmet needs. And i want to go to this important question. What with understanding the gennettic basis for disorder in down syndrome serve not just those with down syndrome but the population at large and i think the answer to that question is yes. Studies in down syndrome will positively impact the care of those who do not have down syndrome. We talked about alzheimers disease. I wont mention it again except to say its a scourge. Imagine how those with down syndrome and their families view the oncoming threat of alzheimers disease . I can promise you it is a nightmare. A nightmare from which they cannot awake. Some years ago i committed to understanding whats going on here and we discovered in mouse models of down syndrome and others in people with down syndrome that an extra copy of one gene, an extra copy of one gene is necessary. We can target that gene. We can device therapies that attack that gene and its products. We can lower the level of that genes expression to normal and i think in so doing will prevent alzheimers disease in down syndrome. This work needs help. This work needs investment in energy and that investment has to be really thoughtfully carefully designed and i would argue has to be designed with the consideration of both the private sector as well as n. I. H. Weve enjoyed so much the contributions from the r. D. S. Foundation under its late harpold, a ichael great friend and champion. The alzheimers association. The national down syndrome society. The cure alzheimers fund. And acmu. N. I. H. Is increasing research in down syndrome has been significant. Not long ago, the research was a low priority for n. I. H. That changed draw matly with a down syndrome working Group Recommended by congress in 2006. We are very grateful to congress for their interest and support for down Syndrome Research. While with this investment, with this recommendation came a new energy for down Syndrome Research. Among the manifestations that we can now see are new initiatives to identify biomarkers and track alzheimers in people with down syndrome. Support under privatepublic partnership of a Clinical Trial to prevent alzheimers disease in down syndrome. And were very grateful at the recruitment of dr. Bianci. Shes a terrific down Syndrome Researcher and someone we look forward to working with. I ask congress to urge n. I. H. To build upon its existing efforts to accelerate the pace and expand the scope of its rk to enable an air of unprecedented success and caring people with down syndrome and i thank the committee for the chance to testify. Thank you. Mr. Cole thank you so much for your testimony. [applause] and next wed like to go to mr. Frank stevens, an outstanding advocate on behalf of down Syndrome Research and on behalf of the families that deal with the issues. So mr. Stevens, youre recognized for whatever opening comments you care to make. And evens mr. Chairman, committee, just so there is no confusion, let me say that i am not a research scientist. [laughter] however, nobody knows more about life with down syndrome than i do. Whatever you learn today, please remember this, i am a man with down syndrome and my ife is worth living. [applause] sadly, across the world, a maybe is being sold that we dont need research oncerning down syndrome. Some people say prenatal screens will identify down syndrome in the womb and those pregnancies will just be terminated. Its hard for me to sit here and say those words. I completely i completely people d that the final this particular solution are saying that people ike me should not exist. That view is deeply prejudice y an outdated idea of life with down syndrome. Seriously, i have a great life. Have lectured at universities , acted in awardwinning film and emmywinning tv show and spoken to thousands of young of le about the value inclusion in making america reafment great. I have been to the white house twice and i didnt have to jump the fence either time. [laughter] seriously, i dont feel i should have to justify my existence. But to those who question the value of people with down syndrome, i would like i would make three points. To t, we are a medical gift ciety, a blueprint for edical research into cancer, alzheimers and immune systems disorders. Second, we are an unusually powerful source of happiness. A harvardbased study has discovered that people with down syndrome as well as their parents and siblings are happier than society at large. Surely happiness is worth something. Finally, we are the canary in the genetics coal mine. We are giving the world a chance to think about the ethics of choosing which humans get a chance at life. O we are helping to defeat cancer and alzheimers we make the world a happier place. Is there really no place for us n the world . Is there really no place for us n the n. I. H. Budget . On a deeply personal note, i cannot tell you how much it means to me that my extra chromeo some might lead to the chromosome might lead to the answer of alzheimers. Ts likely that this its likely that this one day steal y memory, my very life from me. This is very hard for me to say. But it has already begun to teal my mom from me. Please, think about all those people you love the way i love my mom. Help us make the difference. If not for me and my mom, then. Or you and the ones you love fund this research. Lets be america, not iceland or denmark. Lets pursue answers, not final solutions. Lets be america. Lets make our goal to be alzheimersfree, not down syndromefree. Thank you. [applause] mr. Cole thank you. [applause] mr. Cole wow. Before we proceed to question, mr. Stephens, i want to say in your testimony i think you answered every question you laid out. Thank you very much for your very powerful testimony. Thank you for being here today. I am going to open the questions. I will move first to dr. Espinosa and dr. Mobley. You all in your testimony referred to how dramatically, and dr. Ess posea, you talked about, a life span for people with down syndrome have increased in the last three decades. Can you elaborate a little bit more what the reasons for that increase are, how much of it has been due to research, how much has it been due to change in conditions in terms of how we approach people with down syndrome . Dr. Mobley i thank you so much for the question. In large part this is simply making available people with down syndrome what we were already making available to the rest of us. I am going to tell you a story. When i was a brand new pediatric resident at stanford, i went to work one day and i was told theres a little girl in this room and shes 12 years old. She has a low grade fever and belly pain, would you mind investigating, figure out whats going on . I went to see her. And it was very clear she had an acute appendix. So i felt terrific. I could make a difference here. Here i am a brand new resident, i can actually make a diagnosis. And i called the surgeons and they came and said, well, were not sure. And eight hours went by and they came again and they said, were not sure. They waited 72 hours until she person rated her appendix and nearly died and what was her problem . She had down syndrome. They were simply unwilling at that time to take seriously the rights that a person with down syndrome had to great medical care. I will never forget that incident. It changed my life. So i submit to you that we are increasingly doing for people with down syndrome what weve done for others forever. Yes, there have been advances. Congenital Heart Disease surgery is cooler, better, faster. Yes, we know how to level hormone levels. Yes, we know how to treat infections. All of those are true. But the biggest break through so far is bringing those people home, putting them in school and treating their medical issues the way they should have been treated all along. Mr. Cole thank you. Dr. Espinosa. Dr. Ess pose knows dr. Espinosa thank you. The long hanging fruit in the down Syndrome Research field and its i am confident with investing in research we can find simple interventions that could have a massive impact in the lives of people with down syndrome. One example is research coming out of our institutions shows the immune system of people with down syndrome or a particular aspect of it is superactivated all the time which leads to autoimmune conditions but exhaustions of the immune system leading to more like the example of breanna with lyme disease. What you know, thises a ect of the down syndrome can be modulated with f. D. A. Approved drugs with the conditions. We are testing immune therapies with the conditions. If you were to invest in more research, chances are there may be drugs that can be repurposed that would help with other conditions. With people in down syndrome. I am very optimistic an effort in research will pay off big dividends. Mr. Cole thank you. In the limited time i have left, i want to address a question to ms. Whiten and mr. Stephens which is you have seen dramatic changes in the last few years. What are the most important changes youve seen . What are the changes you would like to see in terms of quality of life for people with down syndrome . Mr. Stephens i can go first. Ones we would like to see is Better Health care because n. I. H. Needs to fund this research. Why . Who were ople like us born differently need better because like i said in my and about alzheimers l i have said, those are diseases that we really need to try and cure. Mr. Cole ms. Stephens . Sorry, ms. Whiten. Ms. Whitten i think one of the great advances which ironically which were only finalized in he early 1990s is kind of deinstitutionalization in our country. People with down syndrome were put in institutions most of which were inhumane and as dr. Mobley and dr. Espinosa said, bringing them home, standing on the shoulders of the human rights civil rights activists of the 1960s and 1970s, including a great advocate of ours, senator tom harkin, they were able to live a longer life. Then, as dr. Espinosa said, with Additional Research we believe that that 60 sound barrier can be upwardly mobile and then the quality of life. I think the quality of life is the number concern that i as a parent have and that we here in the hear in the down syndrome community. First and foremost is health. If you suffer from bad health, everything is secondary. So getting the Great Health Care at all stages of life, were in New Territory with adults doubling their life span, this is the first generation of people with down syndrome who will outlive their parents. And that is a scary thing. And when we close our eyes and we leave this world, we want to make sure that theyre safe. I think safety, health care and then just their quality of life that includes education, jobs, all these things that other down syndrome organizations as well as Cathy Mcmorris rodgers are fighting for. I am right there on the health care and the research. Mr. Cole thank you very much. Now recognize my good friend, the Ranking Member of the subcommittee. Ms. Delauro thank you very much for the testimony and thank you for a very powerful testimony. Its the advantage of this wonderful committee that we have the opportunity to listen to people who are experts in the field and who are also in their own lives as to what this what down syndrome can mean. I wanted to ask a question. The subcommittee has followed vances in cancer immunotherapy very, very carefully and very exciting, i might add, about researchers who are looking at the ways in which we harness the power of our own bodies to deal with being immune against diseases. Dr. Espinosa, your research has shown that down syndrome has an adverse effect on the immune system. Can you tell us about your discoveries . Explain how the research is similar or different in cancer to advance in immunotherapy. There are some research that is trying to fight diseases like cancer but it sounds like your research could help calm the immune system with an individual with down syndrome so that their own body isnt attacking itself. I dont know i am not a scientist as well, frank, but is that accurate . What could other researchers who are working on immunotherapy learn from your work and how would what youre requesting in terms of that further Research Capability add to this effort . Espinosa thank you for an outstanding question. You are not a scientist but you think very clearly. There is an obvious connection with immune and people with down syndrome and increase risk of leukemia. What we found is a branch of the immune system that is hyper active with people with down syndrome is a branch of the immune system that we use only when fighting off an infection, fighting off a tumor. So its called the interference response. Interference of molecules when they are infected with the virus to alert the neighboring cells that they can survive and tumor. Ved with a small it starts fighting the tumor cell. That is always in people with down syndrome. Thats not good. The immune system should be quiet when times are not needed. But deployed in the case of emergency and coming back to the barracks. When you have the immune system, you can have an attack of the cells and thats why people with down syndrome have so many immune conditions. You can have hypothyroid system. When it attacks the pancreas, you can have type 1 diabetes. And you can have attack of your pigment producing cells in the iligo. Hat leads to vit coming back to your initial question, can we learn from this about immunotherapy . Yes. What we have seen with people in down syndrome they have elevated numbers in the immune system that attack tumors. Tumors when they are successful at being tumors prevent that attack. What cancer immunotherapy is block those immune system so the immune cells can attack the tumor. So there is an obvious connection. Study more protective aspects of the people with immune system we may find a way to modulate that in a therapeutic way of people that have tumors. Potential is there. Ms. Delauro the potential there, in terms of the research that you are looking to increase, is that an area that you are looking at . What are the areas that you want to try