I 

112TH CONGRESS 

1ST SESSION H. R. 2696 

To amend the Public Health Service Act to expand and intensify programs 

of the National Institutes of Health and the Centers for Disease Control 

and Prevention with respect to translational research and related activities concerning Down syndrome, and for other purposes. 

IN THE HOUSE OF REPRESENTATIVES 

JULY 29, 2011 

Mrs. MCMORRIS RODGERS (for herself, Mr. VAN HOLLEN, and Mr. SESSIONS) 

introduced the following bill; which was referred to the Committee on Energy and Commerce 

A BILL 

To amend the Public Health Service Act to expand and 

intensify programs of the National Institutes of Health 

and the Centers for Disease Control and Prevention with 

respect to translational research and related activities 

concerning Down syndrome, and for other purposes. 

1 Be it enacted by the Senate and House of Representa2 tives of the United States of America in Congress assembled, 

3 SECTION 1. SHORT TITLE. 

4 This Act may be cited as the ‘‘Trisomy 21 Research 

5 Resource Act of 2011’’. 

6 SEC. 2. FINDINGS. 

7 The Congress makes the following findings: 


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1 (1) The father of modern genetics, Dr. Jerome 

2 Lejeune, discovered the extra chromosome 21 re3 sponsible for the condition, known as Down syn4 drome, which he called Trisomy 21 in January 

5 1959. His discovery has opened the doors of genetics 

6 to new generations of researchers. 

7 (2) Down syndrome was named after Dr. John 

8 Langdon Down, the first physician to describe the 

9 syndrome. 

10 (3) Down syndrome is the most frequent ge11 netic cause of intellectual and developmental disabil12 ities and associated medical problems and occurs in 

13 one out of 691 live births, in all races and economic 

14 groups. Intellectual disability, formerly mental retar15 dation, is a disability characterized by significant 

16 limitations both in intellectual functioning and in 

17 adaptive behavior, which covers many everyday so18 cial and practical skills. This disability originates be19 fore birth and lasts a lifetime. 

20 (4) Chromosomes are cell structures that hold 

21 our genes. Genes are the instructions that cells give 

22 that determine things such as eye color, blood type, 

23 and susceptibility to disease. Human cells normally 

24 contain 23 pairs of chromosomes, one pair from the 

25 mother and one pair from the father. 


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1 (5) Down syndrome occurs when, because of 

2 cell division error, there are 3 partial or total copies 

3 of chromosome 21 rather than the normal 2. Be4 cause of the extra copy of chromosome 21, people 

5 with Down syndrome are more susceptible to dis6 eases including Alzheimer’s disease, leukemia, con7 genital heart disease, seizures, and diabetes. How8 ever, people with Down syndrome may be protected 

9 from other common diseases including athero10 sclerosis, hypertension, and solid tumors such as 

11 brain, gastrointestinal, and breast tumors. There12 fore, the study of Down syndrome may lead to novel 

13 treatments of common diseases that affect millions 

14 of Americans. Lead researcher, Dr. Bill Mobely is 

15 quoted as saying ‘‘We’re not just asking what our 

16 country can do for people with Down syndrome, 

17 we’re asking what studies of people can do for our 

18 country and the world.’’. 

19 (6) There are more than 400,000 people living 

20 with Down syndrome in the United States. 

21 (7) Down syndrome incidence increases with the 

22 age of the mother, but due to higher fertility rates 

23 in younger women, the majority of children with 

24 Down syndrome are born to women under 35 years 

25 of age. 


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1 (8) Life expectancy for people with Down syn2 drome has increased dramatically in recent decades, 

3 but varies significantly across various ethnic groups. 

4 People with Down syndrome attend school, work, 

5 participate in decisions that concern them, and con6 tribute to society in many meaningful ways. 

7 (9) The Children’s Health Act of 2000 (Public 

8 Law 106–310) amended the Public Health Service 

9 Act (42 U.S.C. 201 et seq.) and included a number 

10 of provisions that addressed the research and sur11 veillance needs of many disabilities such as autism, 

12 traumatic brain injury, Fragile X syndrome, juvenile 

13 diabetes, asthma, epilepsy, and others. However, this 

14 landmark legislation did not address the significant 

15 research, surveillance, and clinical care needs of 

16 Down syndrome and thus has been an impediment 

17 to progress in the Down syndrome research commu18 nity over the last decade. This Act attempts to in19 corporate Down syndrome as an area of permissible 

20 research and surveillance at the National Institutes 

21 of Health and the Centers for Disease Control and 

22 Prevention and will foster a better understanding of 

23 Down syndrome. 


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1 SEC. 3. NIH DOWN SYNDROME RESEARCH ACTIVITIES. 

2 Part B of title IV of the Public Health Service Act 

3 (42 U.S.C. 284 et seq.) is amended by adding at the end 

4 the following: 

5 ‘‘SEC. 409K. DOWN SYNDROME RESEARCH ACTIVITIES. 

6 ‘‘(a) EXPANSION, INTENSIFICATION, AND COORDINA7 TION OF ACTIVITIES.— 

8 ‘‘(1) IN GENERAL.—The Director of NIH, act9 ing through the director of the Eunice Kennedy 

10 Shriver National Institute of Child Health and 

11 Human Development, shall expand and intensify 

12 programs of the National Institutes of Health with 

13 respect to research and related activities concerning 

14 Down syndrome. The Director of NIH shall carry 

15 out such programs in coordination with a working 

16 group composed of representatives of the relevant in17 stitutes, centers, offices, and agencies of the Na18 tional Institutes of Health. 

19 ‘‘(2) NIH RESEARCH PLAN ON DOWN SYN20 DROME.—The Director of NIH shall publish a Re21 search Plan on Down Syndrome, and update it every 

22 five years or as appropriate. 

23 ‘‘(b) ACTIVITIES.—In expanding and intensifying 

24 programs under subsection (a)(1): 

25 ‘‘(1) BASIC, TRANSLATIONAL, AND CLINICAL

26 RESEARCH.—Building on the comprehensive reVerDate Mar 15 2010 02:54 Jul 30, 2011 Jkt 099200 PO 00000 Frm 00005 Fmt 6652 Sfmt 6201 E:\BILLS\H2696.IH H2696

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1 search plan set forth by the NIH Research Plan for 

2 Down Syndrome published in October 2007, the Di3 rector of NIH may conduct basic, clinical, and 

4 translational research on Down syndrome, including 

5 research on the following: 

6 ‘‘(A) Early detection, diagnosis, and treat7 ment of Down syndrome. 

8 ‘‘(B) The biological mechanisms respon9 sible for structural and functional anomalies in 

10 cells and tissues affected by Down syndrome. 

11 ‘‘(C) The biological mechanisms respon12 sible for cognitive and behavioral dysfunction 

13 resulting from Down syndrome. 

14 ‘‘(D) Novel biomedical and pharma15 cological interventions designed to promote or 

16 enhance cognition and related brain functions 

17 and activities of daily living (ADLs). 

18 ‘‘(E) Co-occurrence of and treatments for 

19 associated medical and neurobehavioral dis20 orders. 

21 ‘‘(F) Developmental disorders, interven22 tions for congenital heart disease, obstructive 

23 sleep apnea, coronary heart disease, obesity, 

24 and metabolism. 


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1 ‘‘(G) Contributions of genetic variation to 

2 clinical presentation as targets for therapy. 

3 ‘‘(H) Identification of biomarkers for com4 plex phenotypes. 

5 ‘‘(I) Noninvasive imaging in support of ef6 forts to identify other genotypes and 

7 phenotypes of Down syndrome. 

8 ‘‘(J) Pharmacological and other therapies 

9 for common features of Down syndrome includ10 ing Alzheimer’s disease and other Down syn11 drome-related disorders. 

12 ‘‘(K) Research related to improving the 

13 quality of life for individuals with Down syn14 drome and their families. 

15 ‘‘(L) Research training programs aimed at 

16 increasing the number of scientists who are 

17 trained to carry out these research directions. 

18 ‘‘(2) FACILITATION OF RESEARCH RE19 SOURCES.— 

20 ‘‘(A) CONTACT REGISTRY FOR INDIVID21 UALS WITH DOWN SYNDROME.— 

22 ‘‘(i) IN GENERAL.—The Director of 

23 NIH may award a grant or contract to an 

24 eligible entity for the purpose of— 


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1 ‘‘(I) identifying individuals with 

2 Down syndrome across the Nation; 

3 ‘‘(II) collecting the names and 

4 contact information of such individ5 uals; and 

6 ‘‘(III) maintaining such names 

7 and contact information in a registry. 

8 ‘‘(ii) CONSENT REQUIRED.—As a con9 dition on the receipt of a grant or contract 

10 under this subparagraph, an entity shall 

11 agree that information about any indi12 vidual will be collected or maintained pur13 suant to this subparagraph only if the indi14 vidual has consented to such collection and 

15 maintenance. 

16 ‘‘(iii) ELIGIBLE ENTITY DEFINED.— 

17 In this subparagraph, the term ‘eligible en18 tity’ means a consortium including at least 

19 one national Down syndrome patient advo20 cacy organization. 

21 ‘‘(B) RESEARCH DATABASE FOR DOWN

22 SYNDROME.— 

23 ‘‘(i) IN GENERAL.—The Director of 

24 NIH may establish a database including 

25 the names, contact information, and each 


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1 medical condition of individuals with Down 

2 syndrome. 

3 ‘‘(ii) REQUIREMENTS.—The database 

4 under clause (i) shall— 

5 ‘‘(I) be searchable by category of 

6 medical condition; and 

7 ‘‘(II) be used exclusively to facili8 tate research. 

9 ‘‘(iii) CONSENT REQUIRED.—The Di10 rector of NIH may include information 

11 about an individual in the Research Data12 base for Down Syndrome only with the in13 dividual’s consent. 

14 ‘‘(C) BIOBANK FOR DOWN SYNDROME.— 

15 ‘‘(i) IN GENERAL.—The Director of 

16 NIH may expand one or more tissue banks 

17 maintained or supported by the National 

18 Institutes of Health— 

19 ‘‘(I) to identify any tissue har20 vested from a tissue donor with Down 

21 syndrome; 

22 ‘‘(II) to include each medical con23 dition of any such tissue donor; and 

24 ‘‘(III) to allow searches specific 

25 to tissue identified under subclause (I) 


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1 and by category of medical condition 

2 included under subclause (II). 

3 ‘‘(ii) CONSENT REQUIRED.—The Di4 rector of NIH may collect and maintain in5 formation about an individual pursuant to 

6 this subparagraph only with the individ7 ual’s consent. 

8 ‘‘(D) RESEARCH RESOURCES.—In carrying 

9 out this paragraph, the Director of NIH may— 

10 ‘‘(i) subject to the consent require11 ments of subparagraphs (A)(ii), (B)(iii), 

12 and (C)(ii), use information collected by 

13 the National Institutes of Health pursuant 

14 to other provisions of law or prior to the 

15 date of the enactment of this section; 

16 ‘‘(ii) take into consideration the avail17 ability of other research resources; 

18 ‘‘(iii) encourage the use of research 

19 resources for research on, and development 

20 of, therapies and treatments for individuals 

21 with Down syndrome; and 

22 ‘‘(iv) encourage the inclusion of indi23 viduals with Down syndrome in clinical 

24 trials conducted or supported by the Na25 tional Institutes of Health. 


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1 ‘‘(3) DOWN SYNDROME CONSORTIUM.—The Di2 rector of NIH may provide for the participation of 

3 agencies of the National Institutes of Health in a 

4 consortium to facilitate the exchange of information 

5 and to make the research effort on Down syndrome 

6 more efficient and effective by ensuring consistent 

7 communication, minimizing duplication of effort, and 

8 integrating the varied perspectives of partner agen9 cies, organizations, and individuals. Such consortium 

10 shall include at least one national Down syndrome 

11 patient advocacy organization and may be the same 

12 consortium receiving a grant or contract under para13 graph (2)(A).’’. 

14 SEC. 4. CDC DOWN SYNDROME SURVEILLANCE AND RE15 SEARCH PROGRAMS. 

16 Part B of title III of the Public Health Service Act 

17 (42 U.S.C. 243 et seq.) is amended by inserting after sec18 tion 317T the following: 

19 ‘‘SEC. 317U. DOWN SYNDROME SURVEILLANCE AND RE20 SEARCH PROGRAMS. 

21 ‘‘(a) IN GENERAL.—The Secretary, acting through 

22 the Director of the Centers for Disease Control and Pre23 vention, may award grants and cooperative agreements to 

24 public or nonprofit private entities (including State health 

25 departments, political subdivisions of States, universities, 


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1 and other educational entities) for the collection, analysis, 

2 and reporting of data on Down syndrome. In making such 

3 awards, the Secretary may provide direct technical assist4 ance, including personnel support, in lieu of cash. 

5 ‘‘(b) NATIONAL DOWN SYNDROME EPIDEMIOLOGY

6 PROGRAM.— 

7 ‘‘(1) GRANTS.—The Secretary, acting through 

8 the Director of the Centers for Disease Control and 

9 Prevention, may award grants to public or nonprofit 

10 private entities (including State health departments, 

11 political subdivisions of States, universities, and 

12 other educational entities) for the purpose of car13 rying out epidemiological activities regarding Down 

14 syndrome, including collecting and analyzing infor15 mation on the number, incidence, correlates, and 

16 symptoms of cases and the clinical utility (including 

17 costs and benefits) of specific practice patterns. In 

18 making such awards, the Secretary may provide di19 rect technical assistance, including personnel sup20 port, in lieu of cash. 

21 ‘‘(2) NATIONAL SURVEILLANCE PROGRAM.—In 

22 carrying out subsection (a), the Secretary shall— 

23 ‘‘(A) provide for a national surveillance 

24 program; and 


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1 ‘‘(B) where possible, ensure that the sur2 veillance program is coordinated with the data 

3 and sample collection activities of the National 

4 Institutes of Health under section 409K.’’. 

5 SEC. 5. REPORT TO CONGRESS. 

6 Not later than January 1, 2012, and each January 

7 1 thereafter, the Secretary of Health and Human Services 

8 shall prepare and submit to the appropriate committees 

9 of the Congress a report concerning the implementation 

10 of this Act and the amendments made by this Act. 

Æ 


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