in the meantime we will take you live to a house appropriations subcommittee hearing on down syndrome research. a number of witnesses including the executive director of the university of colorado's institute for down syndrome research and from the alzheimer's research center in the university of san diego.

>> 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. i'm 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 alzheimer's, 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 hiv-aids 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 1990's.

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, that's 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, i'm 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. we're delighted you took the come and you're 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. there's absolutely no one in this room that should ever have to suffer from alzheimer's

disease. we're 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 alzheimer's 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 it's a new day for down syndrome research. when i had started in this, my colleagues told me, do not study down syndrome. please don't do that. you are going to ruin your career. and why? because it's too complex to

understand, too difficult to study and treatments will come too late. those are not true. those statements are all false. we're 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 alzheimer's disease. i won't mention it again except to say it's a scourge.

imagine how those with down syndrome and their families view the oncoming threat of alzheimer's disease? i can promise you it is a nightmare. a nightmare from which they cannot awake. some years ago i committed to understanding what's 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 gene's expression to normal and i think in so doing will prevent alzheimer's 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. we've enjoyed so much the contributions from the r.d.s. foundation under its late harpold, a ichael great friend and champion. the alzheimer's association. the national down syndrome society. the cure alzheimer's 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 alzheimer's in people with down syndrome. support under private-public partnership of a clinical trial to prevent alzheimer's disease in down syndrome. and we're very grateful at the recruitment of dr. bianci. she's 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 we'd 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, you're 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 don't need research oncerning down syndrome. some people say prenatal screens will identify down syndrome in the womb and those pregnancies will just be terminated. it's 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 award-winning film and emmy-winning 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 didn't have to jump the fence either time. [laughter] seriously, i don't 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,

alzheimer's and immune systems disorders. second, we are an unusually powerful source of happiness. a harvard-based 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 alzheimer's 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 alzheimer's. t's likely that this -- it's 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. let's be america, not iceland or denmark. let's pursue answers, not final solutions. let's be america. let's make our goal to be alzheimer's-free, not down

syndrome-free. 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 there's a little girl in this room and she's 12 years old. she has a low grade fever and belly pain, would you mind investigating, figure out what's 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, we're not sure. and eight hours went by and they came again and they said, we're 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 we've 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 it's 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 you've 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 alzheimer's 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 1990's 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 1960's and 1970's, 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, we're 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 they're 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. it's 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 isn't attacking itself. i don't 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 you're 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 it's 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. that's 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 that's 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 to focus in in

terms of this additional research? is this an avenue for additional resources? dr. espinosa: a cancer researcher for my background, that's an area where i am personally interested in. i don't think that should be an area we should be investing in. we need to look at alzheimer's, like in the research program of dr. mobley, we can look at the cancer connection. we can look at the autoimmune connection. there is potential for a lot of different things. me personally my research team back in denver is looking at this particular aspect. ms. delauro: thank you. mr. cole: let's go -- all due respect we have these expert witnesses, we have our own experts too. i want to go to my good friend, dr. harris, for whatever questions he'd care to ask. mr. harris: thank you, mr. chair, for calling the hearing. mr. stephens, i have been in congress seven years. that's the most powerful testimony i heard at a committee hearing in seven years.

[applause] i graduated in medical school in 1980. and there's a reason why this is stuck in the institute of childhood diseases. in 1980 it basically was a childhood disease because we were taught children with down syndrome didn't live very long. they had congenital anomalies which at the time had difficult to treat surgecally, had high mortality rates. it spawned an era where we started developing things like prenatal testing. then thought i guess it's a good idea we can measure this and we can find this disease. then as you suggest, we can eliminate the disease. through elected abortion. and i think that is something we always have to be careful about. when we look at disability

communities and try to solve that problem. we're having ongoing debates about end of life care and the disability concerns end of life, we have to be thoughtful of that. it's very -- want a little feedback from the panel because you're following on a hearing yesterday on n.i.h. funding. and in general, global issues. and about how great a job they do and we ought to keep doing exactly what they do and give them a little money but your perception is exactly correct. it needs more than just money. it needs to be done smartly and wisely. it needs to be thought of outside the box. there's a reason why -- i have the sheet here. the per affected individual how uch n.i.h. spends on various disease. for hiv-aids we spend $2,500 per affected individual. if you estimate the people

living with downs in the united states which is 250,000, which is a low estimate, it's $1,100 per year per person. you 25 times per person on hiv-aids than we do in downs. remember in 1980 when i graduated from medical school, both disease had similar reputations. ok. and here -- now why is that? we have to ask why is that and i suggest because we don't think outside the box. a lot of federal funding agencies don't think outside the box. they have to be pushed by a committee like this to say, how can you have missed this? how can you miss the discoveries you talk about? ether it's immunology, oncogenesi? oncogenesis? s -- how can we miss this? you may not know because this may be our purview to figure out how to solve this problem.

do we do it by just urging the n.i.h. to look at this? because come and ask -- you are asking for $300 million. there are two ways you can do it. you can add more funding or say, look, we are going to increase funding every year. should we just earmark some of that and encourage n.i.h. to do this multidisciplinary approach? i say the latter might make more sense. it might be easier to do to look at these new avenues. where do you think -- how do you think it's best done? how do we change the n.i.h.'s mind about this to say -- and maybe dr. mobley, since you know, since you bridge it, your credential is you head the alzheimer's institute and the down syndrome research division. how do we convince conventional scientists, conventionally thinking scientists to think outside the box on this? dr. mobley: thanks.

i have no perfect formula but here's what i would -- here's what i would say. the science is so powerful now that were n.i.h. to pay more attention to it, were they to look across the field of down syndrome research, to identify gaps and understanding, to define priorities, to establish the bridge between discovery and therapeutic target, between target and target development, between target development and clinical trials, if they were given the opportunity, encouraged to pay attention to the great science that's there, the net result would be more funding. forget about earmarks. the result of an n.i.h. who pays attention to the science that's already there and who's empowered to make it better, will be fantastic. and so i agree with this n.i.h. approach. i think it's exactly right. it needs -- i need to hear from

logy.e who study immuno they are making a difference and causing problems in the alzheimer's disease brain. this chromosome and the thing it creates are a wealth of information across institutes to change the game. so ask n.i.h. to pay attention. ask them to study it. ask them to define priorities and close gaps and you'll see a change. mr. harris: thank you very much. yield back. mr. cole: thank you. next go to my friend from california, ms. roybal-allard. are thank llard: you, mr. stephens, for your very compelling testimony to the subcommittee. all you have accomplished in your life is very impressive. and, yes, your life and the life of all those with d.s. has

value and is truly worth living. as been highlighted today that individuals living with down syndrome are a gift to society and it's not because you have that extra chromosome but because of your extra special heart. unfortunately, many in our society are too slow to recognize this and the world has not always been kind to the people with down syndrome. for that reason it is not surprising that many who have d.s. and their families are skeptical of government sponsored research involving down syndrome. as a result, one of the issues that has been brought to my attention by advocates in california is that many families with a down syndrome child are hesitant to sign up for the down syndrome patient

registry because they are concerned about the government knowing too much about their health and their personal lives. what would you tell the parents of young children with down syndrome to encourage them to sign up with the d.s. connect and to participate in the research? mr. stephens: i would tell them there's no need to be afraid because i know we can sign this. why? because it is our life. it is our blood. celebrate right to down are and know that syndrome -- like i said in my speech -- we are men and women with down syndrome and i know that our lives are worth iving.

ms. roybal-allard: dr. mobley, the connection between drowns and dementia was first recognized within the 1970's and alzheimer's pathology was discovered in the brains of individuals with d.s. in the 1980's. it's been almost 40 years that have passed and only now is this research getting the attention that it deserves. and we have the baby boomer of generation with down syndrome now into their 50's and 60's and we still have no drug approved to treat dementia and many primary care providers across the country are still unaware or unage to make the diagnosis for alzheimer's in those with down syndrome. why do you think it has taken so long for the medical community to embrace this critical connection between down and alzheimer's? dr. mobley: it's a really good question. i want to say that the medical community suffers in the same

way that general community suffers. people with down syndrome are different somehow. if their needs are not as important to other people, then why would you bother helping people with down syndrome? now, i don't want to mitigate the difficulty of diagnosises alzheimer's in the general population. i don't want to say we had great success with alzheimer's disease. there are no therapies right now. but i can say that in the many years that i've been invested in this for a very long time there was pushback that even in spite of the brain pathology, in spite of the changes in doing anything, this wasn't are the same thing. i was told by a director at n.i.h. one time, well, it's not the same disease. it is the same disease. it looks different, a little bit, but it's fundamentally the same disease. so i would argue that the

reluctance to accept this realization is partly a reluctance to consider carefully the livelihood, the well being, the importance of people with down syndrome. partly it's that. partly it's that it's a little more difficult to make a diagnosis of dementia in somebody who starts off a little different cognitively but that's all changing. i think there's a sea change in the way people think of down syndrome. a few years auto i gave a talk at ucla and -- a few years ago i gave a talk a ucla. one of the scientists said, i down even heard treat syndrome. really? that's news to me. so partly it's recognition of the similarities. partly it's recognition of the personhood of the person with down syndrome. partly it's just getting the word out. i think this down syndrome. really? committee has a chance to make a difference there. if every practitioner in america knew that this risk was

there of alzheimer's in down syndrome, i think we'd change their views of things. i think that would be very positively. ms. roybal-allard: there are no drugs in this country to treat people with downs or alzheimer's. , itain has approved three colon es -- inhibitors with dementia in down syndrome patients. do you know why? 14 years : so about go we hadded f.d.a. approved inhibitors for alzheimer's disease in this country. that's the last major break through apart from mimentine. it was like 25 years ago nhibitors and 13 years ago for mimentine. those drugs are available for people with down syndrome. but i think there are

underutilized. it's also fair to say that the effects -- the side effects of those drugs may be different with people that has down syndrome than the general population. the bottom line that you need to hear, in spite of many, mall billions of dollars invested, we're not yet there with disease modifying treatments for alzheimer's disease. and my argument is that here's a chance for people with down syndrome to change that. mr. cole: you're generous to recognize that. thank you. [laughter] i next want to go to my good friend from the great state of alabama, mrs. roby, for any questions she cares to ask. mrs. roby: thank you, chairman cole, for convening this informative hearing today and to all of you on the panel for sharing your information and, mr. stephens, for your personal testimony. i appreciate it so much. but to highlight the importance

of biomedical research and development in your own lives fascinating to learn. a member of this committee, research can potentially translate to tremendous breakthroughs fascinating in al certain cancers and autoimmune diseases, just to name a few, as already been discussed here today. mr. chairman, today i would like to recognize melinda mcclendon and her two sons, buck and charlie. will you all stand up. [applause] her two sons are constituents of mine from alabama. i'm so proud to have you here as advocates from my community to share your personal story and i had the opportunity -- and mr. chairman, you met buck on the floor yesterday -- to take buck down with me during votes. i got to see firsthand buck's

infectious personality and his love of life. thank you for sharing your day with me yesterday and i'm so grateful that you're all here. so thank you so much. [applause] as a mother myself, i'm particularly touched by your personal testimony, mr. stephens. every life is precious and i want you to know that i'm with you and i support you. i, too, am deeply troubled by the recent reports out of iceland and denmark and other places boasted of being down syndrome-free by 2030. by means of abortion. i want you to know that i am napologetically pro-life and i will always fight to make sure there are protections for life under our laws here in the united states. every baby should be treated will always fight like the miracle that they were created to be. as we talk about growing research capabilities,

including funding through this very committee, i think it's important, mr. chairman, that we have assurances that the medical community won't slip down the slippery slope towards jenics however -- eugenics, however indirect the practice may be. if you want to offer some comments on that, i think it's important and dr. harris touched on it. but mr. stephens, you did as well. important as we meet here director of the largest agency studying down syndrome in the world right now, there are four active labs, more than 140 scientists. we do not fund any research that could even potentially lead to that eugenics path you recognized. we don't receive a proposal

that tries to investigate the of that extra chromosome and try to prevent that. our mission is to improve the lives of people with down syndrome. within that, there are possibilities for prenatal treatment. it is of course something that one needs to be very cautious about, about intervening prebirth but that is within the realm of possibility with more research and advances in technology. you can have assurance from us we will no fund any research that could even potentially be tied to selected terminations. mrs. roby: thank you. i appreciate that. real quickly, i don't have much time left, but can you expound either one of you -- can he expound on the timeline of researching down syndrome? some already gone

advancements we made. what kind of resources are essential for discovering the next major medical breakthrough for individuals with down syndrome in five, 10, 15 years, 20 years? and what, if any, specific research or studies do you know at the present that focuses on the adult population? if you could just go there with me that would be great. dr. mobley: i'll briefly start. the timeline depends on you. the timeline depends on you. the technology's there. the ideas are there. we need a concerted effort to solve these problems. and i think if you insist upon it will happen. so just to make it clear. we know with respect to alzheimer's disease, we know what to do. we know when to do it. we know who to do it with. it's just a matter of putting our will to that purpose. i'll give you a specific example.

we're now under n.i.h. funding we developed a very promising compound that in mouse models of down syndrome eliminates, eliminates the effects of that extra chromosome. the molecule is well advanced. we hope to file an i.n.d. on that molecule very soon. i hope that we'll do our first in man studies in down syndrome. that could happen in two years. of course it won't if there's not funding. right now we don't have funding for that. so i want to say that it's a rich time for us. there's great promise but we are going to need your help in the argument and directing attention to this very important possibility. i would argue what we're hearing about alzheimer's disease the argument and directing is true across the board. there are many more projects that could happen quickly. the timing is up to, mrs. roby.

mrs. roby: mr. chairman, thank you for this very powerful hearing today in the subcommittee. i really, really appreciate you doing this. mr. cole: well, thank you. you can thank your excellent staff. they are the ones that put these things together for us and help us identify topics. we always go by order of arrival before we again. my good friend from massachusetts, ms. clark, is recognized for whatever questions she may ask. ms. clark: thank you, mr. chairman, and congresswoman delauro. especially for frank for your powerful testimony here this morning. but i have some powerful people with me from my home state as well. i want to introduce jan tobin from arlington. and we have -- very pleased to have maureen gallagher who is the executive director of the massachusetts down syndrome congress. but most of all, i want to

introduce you to kate bartlett. kate, if you would stand up and just say hello. [applause] kate is one powerful advocate. to my te when she came to my office and signed me up as a co-sponsor of the able act. we share a love of politics. i know this is very bipartisan hearing and topic. we are kind of partisan. kate and myself. and we -- she's just an inspirational young woman. as i meet so many young women across my district. and i am delighted to have here -- her here today. we also share a first name spelled correctly with a k. but we also share something not so positive.

kate has statistically a great chance of alzheimer's. grandfather, my great aunt, my aunt and now my mom who is suffering. what do you see what do you see as the possibility for isolating the gene that looks at alzheimer's and the connection, if you can talk a little more about the connection between the much-needed research for people with down syndrome and the connection to alzheimer's? dr. mobley: thank you. we know the down syndrome complex. we know that a lot of genes may contribute. but we know that the gene for a.p.p. is necessary alzheimer's disease in down syndrome. the argument is that if we target that gene and its

products, if we turn down its expression, if we eliminate its toxic products, that we can prevent alzheimer's disease in down syndrome. and the relevance of this more generally to alzheimer's disease, to your mom, to my mom, to lots of moms and dads, is that that gene features prominently in all the thinking about alzheimer's research and in alzheimer's disease. one product of that gene is found in aggregates in the brains of folks with -- from the general population. there's a familial form of alzheimer's disease in which the only extra copy of that one gene is present to cause it. so the message here is a very focused approach that sees the bridge between what we learn in down syndrome, what we've learned in the genetics of alzheimer's in the general population, that we focus on that, we pay attention to that, we invest in that in a very serious way and by doing so, we basically find a way to prevent alzheimer's disease.

not just in down syndrome but in the whole population. want to mention that therapeutically once you target a.p.p. but there are other genes that make a difference in down syndrome very likely and in the population in general very likely these other genes are playing an important role. so we don't want it to be only a.p.p., but we want a program that robustly addresses those other genes as well because what we're facing is an epidemic that's going to affect all of us. we need to act now to avoid that epidemic. ms. clark: thank you. and i just -- i wanted to sie whitten -- is it sie? despite what translational research, just on its own, we need to do this for the quality of life for people in our community and the translational

research is important but almost additional good things that can come. some of the concerns i have is we are also debating a budget this week where we are looking at potentially removing trillions of dollars out of federal spending. and there was a proposal by this administration to cut n.i.h. overall by 22%. that was rejected by this committee. 2% you talk about what a 2 reduction at n.i.h. would look like? ms. whitten: i can speak on behalf of global and our affiliates -- i don't know, guys, do i speak for everybody in the community? it would be devastating. it would be devastating to a lot of people, millions of people. but when you look at the down syndrome community, even furthermore compounded. if we continue on this trajectory, if you look at the estimate of the budget for 2018

that kind of tracks with that cut, we would drop down to $20 million. we were at $29 million in 2001. you can just see compounded year on year what that has done for the lack of health outcomes children and adults. so i am so appreciative to every single one of you -- and this is great because both sides of the aisle, everybody's getting together and children a says, this is important for the health of all americans. we need to maintain or increase ideally the budget at n.i.h. and certainly what we would hope is that with yet another increase that we could get some fair share of funding to help people with down syndrome first and foremost and then we'll by god if it helps people with alzheimer's and cancer and autoimmune disease that would be fabulous. so thank you very much. ms. clark: thank you. i yield back. thank you for your indulgence. mr. cole: i must say i am being

very indull gent today. i will gently admonish my from other side of the aisle, please refrain asking the question two seconds before the time. ms. clark: i think it was 20. mr. cole: this is an exceptional hearing. we appreciate your testimony so much. we're going to be running a little late. i am going to make a chairman's prerogative decision here. i want to make sure every member has an opportunity to ask at least one set of full questions. with the indulgence of witnesses go a little bit longer than we're scheduled for. certainly i want to offer the ranking member and myself any opportunity to make any closing remarks we care to at the end of the hearing. that caveat, i want to go next ms. herrera end, beutler. ms. herrera beutler: this has been an amazing and eye-opening and -- kathy is one of my best friends. she had to sneak off. she's a busy lady. watching her go through this process. i have a few questions and a

few thoughts. one thing i want to say, even to the families, to the advocates, you represent just a force that has been laboring and laboring and laboring just to get to this point. and i want to say thank you. my -- i had a challenging pregnancy. was told there would be no hope for my kiddo. to terminate. there was no treatment even if she would have been born and breathing, it was a totally different condition. we decided we wanted to -- we didn't want to make that decision, right? we wanted to give her the best chance we could. you know, i was told by so many doctors this won't work. this won't work. i was told all sorts of things that are not factual. and it wasn't because i think their hearts are in the wrong place but i think the static mindset around people who are different. >> this hearing should wrap up shortly. you can continue to watch o