I 

111TH CONGRESS 

1ST SESSION H. R. 3502 

To amend the Public Health Service Act to establish an Office of 

Mitochondrial Medicine at the National Institutes of Health, and for 

other purposes. 

IN THE HOUSE OF REPRESENTATIVES 

JULY 31, 2009 

Mr. MCDERMOTT (for himself, Mr. CONNOLLY of Virginia, Ms. WASSERMAN

SCHULTZ, Mr. JOHNSON of Georgia, Mr. TIM MURPHY of Pennsylvania, 

Mr. ELLSWORTH, Ms. ESHOO, Mr. KIRK, Mr. ADLER of New Jersey, Mr. 

MCGOVERN, Mr. BOSWELL, Mr. THORNBERRY, Mr. VAN HOLLEN, and 

Mr. THOMPSON of California) introduced the following bill; which was referred to the Committee on Energy and Commerce 

A BILL 

To amend the Public Health Service Act to establish an 

Office of Mitochondrial Medicine at the National Institutes of Health, 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 ‘‘Mitochondrial Medi5 cine Research and Treatment Enhancement Act’’. 

6 SEC. 2. FINDINGS AND PURPOSE. 

7 (a) FINDINGS.—Congress finds the following: 


tjames on DSKG8SOYB1PROD with BILLS
2 

•HR 3502 IH

1 (1) Mitochondrial disease results when there is 

2 a defect that reduces the ability of the mitochondria 

3 in a cell to produce energy. As the mitochondria fail 

4 to produce enough energy, the cell will cease to func5 tion properly and will eventually die. Organ systems 

6 will begin to fail, and the life of the individual is 

7 compromised or ended. 

8 (2) There are more than 40 specifically identi9 fied mitochondrial diseases, but the vast majority 

10 have not yet been identified. 

11 (3) Mitochondrial diseases are a relatively newly 

12 diagnosed group of diseases, first recognized in the 

13 late 1960s. Diagnosis is extremely difficult for a 

14 number of reasons. 

15 (4) Mitochondrial diseases can present them16 selves at any age, with associated mortality rates 

17 that vary depending upon the particular disease. The 

18 most severe diseases result in progressive loss of 

19 neurological and liver function, and death within 

20 several years. 

21 (5) According to the National Institute of Envi22 ronmental Health Sciences, half of those affected by 

23 mitochondrial disease are children, who show symp24 toms before age five and approximately 80 percent 

25 of whom will not survive beyond the age of 20. 


tjames on DSKG8SOYB1PROD with BILLS
3 

•HR 3502 IH

1 (6) Mitochondrial dysfunction is also associated 

2 with numerous other related disorders, including 

3 many common neurological diseases (such as Parkin4 son’s, Alzheimer’s, ALS, and autism), and other dis5 eases associated with aging, diabetes, cancer, and 

6 obesity. 

7 (7) Mitochondrial disease is most commonly the 

8 result of genetic mutation, either in the nuclear 

9 DNA or in the mitochondrial DNA. Some 

10 mitochondrial diseases also are attributable to envi11 ronmental factors, including prescription medica12 tions, that interfere with mitochondrial function. 

13 (8) Researchers estimate that one in 4,000 chil14 dren will develop a mitochondrial disease related to 

15 an inherited mutation by the age of 10 years, and 

16 that 1,000–2,000 children are born each year in the 

17 United States who will develop mitochondrial disease 

18 in their lifetimes. However, studies of umbilical cord 

19 blood samples show that one in 200 children are 

20 born with both normal and mutant mitochondrial 

21 DNA, and the number of children with these 

22 mutations who actually develop a disease is un23 known. 


tjames on DSKG8SOYB1PROD with BILLS
4 

•HR 3502 IH

1 (9) There are no cures for any of the specifi2 cally identified mitochondrial diseases, nor is there a 

3 specific treatment for any of these diseases. 

4 (10) Improving our basic understanding of 

5 mitochondrial function and dysfunction has potential 

6 application to numerous areas of biomedical re7 search. The National Institutes of Health has taken 

8 an increased interest in mitochondrial disease and 

9 dysfunction and has sponsored a number of activities 

10 in recent years aimed at advancing mitochondrial 

11 medicine, including incorporating research into func12 tional variation in mitochondria in the Trans13 formative Research Grants Initiative. 

14 (b) PURPOSE.—It is the purpose of this Act to pro15 mote an enhanced research effort aimed at improved un16 derstanding of mitochondrial disease and dysfunction and 

17 the development of treatments for mitochondrial disease. 

18 SEC. 3. ENHANCEMENT OF RESEARCH AND TREATMENT 

19 ACTIVITIES RELATED TO MITOCHONDRIAL 

20 MEDICINE. 

21 (a) MITOCHONDRIAL MEDICINE RESEARCH EN22 HANCEMENT.—Part A of title IV of the Public Health 

23 Service Act (42 U.S.C. 281 et seq.) is amended— 

24 (1) by redesignating section 404H as section 

25 404I; and 


tjames on DSKG8SOYB1PROD with BILLS
5 

•HR 3502 IH

1 (2) inserting after section 404G the following 

2 new section: 

3 ‘‘SEC. 404H. OFFICE OF MITOCHONDRIAL MEDICINE. 

4 ‘‘(a) ESTABLISHMENT.—There is established within 

5 the Office of the Director of NIH an office to be known 

6 as the Office of Mitochondrial Medicine (in this section 

7 referred to as the ‘Office’), which shall be headed by a 

8 Director (in this section referred to as the ‘Director’), ap9 pointed by the Director of NIH. 

10 ‘‘(b) MITOCHONDRIAL MEDICINE RESEARCH

11 PLAN.— 

12 ‘‘(1) IN GENERAL.—The Director shall develop, 

13 make publicly available, and implement a written 

14 plan to facilitate research into mitochondrial medi15 cine. 

16 ‘‘(2) CONTENTS.—The plan required under 

17 paragraph (1) shall include the following objectives: 

18 ‘‘(A) Improving coordination of research 

19 related to mitochondrial medicine among the 

20 national research institutes and between the 

21 National Institutes of Health and outside re22 searchers. 

23 ‘‘(B) Providing training to research sci24 entists and health professionals engaged in re25 search related to mitochondrial medicine. 


tjames on DSKG8SOYB1PROD with BILLS
6 

•HR 3502 IH

1 ‘‘(C) Providing training to health care pro2 viders regarding the diagnosis of mitochondrial 

3 disease and dysfunction. 

4 ‘‘(D) Establishing scientific review groups 

5 with expertise in mitochondrial medicine to 

6 oversee relevant research projects in the Na7 tional Institutes of Health. 

8 ‘‘(3) CONSULTATION.—In developing the plan 

9 under paragraph (1), the Director shall consult 

10 with— 

11 ‘‘(A) the Director of the National Cancer 

12 Institute; 

13 ‘‘(B) the Director of the National Institute 

14 of Child Health and Human Development; 

15 ‘‘(C) the Director of the National Institute 

16 of Environmental Health Sciences; 

17 ‘‘(D) the Director of the National Heart, 

18 Lung, and Blood Institute; 

19 ‘‘(E) the Director of the National Institute 

20 of Neurological Disorders and Stroke; 

21 ‘‘(F) the Director of the National Institute 

22 of Diabetes and Digestive and Kidney Diseases; 

23 ‘‘(G) the Director of the National Eye In24 stitute; and 


tjames on DSKG8SOYB1PROD with BILLS
7 

•HR 3502 IH

1 ‘‘(H) the heads of such other institutes 

2 and offices as the Director considers appro3 priate. 

4 ‘‘(4) UPDATES.—The Director shall update the 

5 plan required under paragraph (1) on a biennial 

6 basis. 

7 ‘‘(c) RESEARCH GRANTS.—In addition to any grants 

8 otherwise awarded by the National Institutes of Health 

9 for research in mitochondrial medicine, the Director shall 

10 annually award— 

11 ‘‘(1) at least five grants for integrated, multi12 project research programs related to mitochondrial 

13 medicine; and 

14 ‘‘(2) at least five grants for planning activities 

15 associated with integrated, multi-project research 

16 programs related to mitochondrial medicine. 

17 ‘‘(d) CENTERS OF EXCELLENCE.— 

18 ‘‘(1) IN GENERAL.—The Director may award 

19 grants to institutions or consortiums of institutions 

20 to establish Mitochondrial Medicine Centers of Ex21 cellence to promote interdisciplinary research and 

22 training related to mitochondrial medicine. 

23 ‘‘(2) USE OF FUNDS AWARDED.—A grant 

24 awarded under paragraph (1) shall be used to— 


tjames on DSKG8SOYB1PROD with BILLS
8 

•HR 3502 IH

1 ‘‘(A) conduct basic and clinical research re2 lated to mitochondrial medicine; 

3 ‘‘(B) facilitate training programs for re4 search scientists and health professionals seek5 ing to engage in research related to 

6 mitochondrial medicine; 

7 ‘‘(C) develop and disseminate programs 

8 and materials to provide continuing education 

9 to health care professionals regarding the rec10 ognition, diagnosis, and treatment of 

11 mitochondrial disease and dysfunction; and 

12 ‘‘(D) provide living stipends for research 

13 scientists and health professionals enrolled in 

14 mitochondrial research training programs. 

15 ‘‘(e) NATIONAL REGISTRY; BIOREPOSITORY.— 

16 ‘‘(1) NATIONAL REGISTRY.—The Director shall 

17 establish a national registry for the maintenance and 

18 sharing for research purposes of medical information 

19 collected from patients with mitochondrial disease or 

20 dysfunction. 

21 ‘‘(2) BIOREPOSITORY.—The Director shall es22 tablish a national biorepository for the maintenance 

23 and sharing for research purposes of tissues and 

24 DNA collected from patients with mitochondrial dis25 ease or dysfunction. 


tjames on DSKG8SOYB1PROD with BILLS
9 

•HR 3502 IH

1 ‘‘(f) DEFINITION.—In this section, the term 

2 ‘mitochondrial medicine’ means medical treatment related 

3 to mitochondrial disease or dysfunction.’’. 

4 (b) DEVELOPMENT OF MITOCHONDRIAL MEDICINE

5 RESEARCH PLAN.—The Director of the Office of 

6 Mitochondrial Medicine shall develop and make publicly 

7 available the mitochondrial medicine research plan re8 quired under section 404H(b)(1) of the Public Health 

9 Service Act, as added by subsection (a) of this section, 

10 not later than 180 days after the date of the enactment 

11 of this Act. 

Æ 


tjames on DSKG8SOYB1PROD with BILLS