IV 

110TH CONGRESS 

1ST SESSION H. RES. 524 

Expressing the sense of the House of Representatives with respect to 

Diamond-Blackfan Anemia. 

IN THE HOUSE OF REPRESENTATIVES 

JUNE 27, 2007 

Mrs. MCCARTHY of New York submitted the following resolution; which was 

referred to the Committee on Energy and Commerce 

RESOLUTION 

Expressing the sense of the House of Representatives with 

respect to Diamond-Blackfan Anemia. 

Whereas Diamond-Blackfan Anemia (‘‘DBA’’) is a rare genetic bone marrow failure disorder affecting children and 

adults, 90 percent of whom are younger than 1 year of 

age when they are diagnosed, and results in severe anemia due to failure to produce red blood cells; 

Whereas individuals and families suffering with rare diseases 

such as DBA not only face the challenges of their debilitating and life-threatening diseases, but must also confront the unfair consequences of their rare disease status, 

which often means limited research is being done and 

treatment options may not be optimal; 

Whereas individuals suffering from rare diseases deserve access to improved treatment options and the potential for 


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a cure through the advancement of specialized research 

initiatives despite their rare disease status; 

Whereas it is recognized that although DBA is rare, the importance of the disease lies only in part in the devastating clinical consequences it may have on those affected, as research is proving that study of complex, rare 

diseases such as DBA are yielding tremendous advancements in other, larger disease areas that affect millions 

of Americans; 

Whereas the children living with DBA have an increased risk 

of leukemia, solid tumors, and complete bone marrow 

failure, and 50 percent of patients with DBA are born 

with birth defects including abnormalities to the face, 

head, upper arm and hand, genitourinary, and heart with 

21 percent of affected patients having more than 1 defect; 

Whereas researchers believe that as a genetic disorder of red 

cell production and as a cancer predisposition syndrome 

with a high rate of congenital anomalies, the study of 

DBA will yield clues to several other widespread diseases 

providing valuable insights into the biology of blood disorders, blood cell formation (recovery from cancer chemotherapy), the true incidence of aplastic anemia, 

myelodysplastic syndrome, leukemia, and the predisposition to cancer in DBA, and serve as an important model 

for understanding the genetics of birth defects; 

Whereas treatments for DBA, including the use of steroids 

(such as prednisone) and blood transfusions, have potential long-term side effects, including osteoporosis, impaired growth because of the steroids, diabetes, and iron 

overload because of the transfusions; 


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Whereas the only cure for DBA is a bone marrow transplant, 

a procedure that carries serious risks and, since most patients lack an acceptable donor, is an option available for 

only about 25 percent of patients; 

Whereas rare diseases, such as DBA, where there are no regional or ethnic biases and a small number of patients, 

making progress in treatment protocols and research difficult, benefit greatly from well-established comprehensive 

care centers such as the DBA Comprehensive Clinical 

Care Center at Schneider Children’s Hospital in New 

Hyde Park, New York, which has become the multidimensional hub for the care and treatment of DBA patients across the country, as well as the home of the 

DBA Patient Registry which has become a valuable national resource for investigators utilizing the Center to 

accomplish research in a multitude of areas not specific 

only to DBA; 

Whereas the successful establishment of the DBA Comprehensive Clinical Care Center at Schneider Children’s 

Hospital became a model for how to diagnose, treat, and 

improve the lives of patients with rare diseases, while 

learning from the disorder to yield advancements in other 

areas of disease research; 

Whereas the success of the initial DBA Comprehensive Clinical Care Center prompted the Centers for Disease Control and Prevention’s DBA Public Health Outreach and 

Surveillance Program to establish 3 additional DBA Centers in Texas, California, and Massachusetts to further 

patient access to information, treatment, and care by 

DBA experts, which has resulted in a doubling of patient 

care visits for DBA care and surveillance since their establishment; 


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Whereas the DBA Public Health Outreach and Surveillance 

Program at the Centers for Disease Control and Prevention (CDC) has resulted in the completion of the first 

CDC brochure for the DBA patient population, the introduction of a DBA hotline and dedicated DBA nurse, and 

has resulted in a 25-percent increase of enrollment of 

DBA patients into the DBA Patient Registry in the first 

2 years of the program; 

Whereas the collaboration achieved through the federally supported DBA initiatives within the National Institutes of 

Health and Centers for Disease Control and Prevention 

and their close collaboration with the Daniella Maria 

Arturi Foundation and the DBA Foundation have driven 

the many recent successes in the DBA field and serve as 

a model for addressing rare disease research efforts 

through close public and private collaboration to achieve 

the highest levels of success in the areas of improved patient care and disease research; 

Whereas the interagency collaboration achieved within the 

National Institutes of Health between the National 

Heart, Lung, and Blood Institute, the National Institute 

of Diabetes and Digestive and Kidney Diseases, the National Cancer Institute, and the Office of Rare Diseases 

to advance the research and understanding of DBA has 

resulted in significant advancements not only in the DBA 

scientific arena, but in understanding its many links to 

more prevalent disorders; and 

Whereas the DBA research initiatives have already yielded 

tremendous success including the discovery of 2 

ribosomal protein (‘‘RP’’) genes and the identification 

that DBA is the first human disease linked to a 

ribosomal protein problem which, as a fundamental unit 


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of cellular function, has been implicated in a wide range 

of human disorders including cancer, making this discovery a profound example of the additional benefits that 

may result from the study of DBA: Now, therefore, be 

it 

1 Resolved, That— 

2 (1) the House of Representatives— 

3 (A) recognizes that the identification of Di4 amond-Blackfan Anemia (in this resolution re5 ferred to as ‘‘DBA’’) as the first human dis6 order with a ribosomal deficiency is a primary 

7 example of the importance of the Federal Gov8 ernment’s continued support of DBA research, 

9 which may advance the understanding of the 

10 basic mechanisms that affect red cell produc11 tion, identify connections of ribosomal function 

12 and cell cycle production, identify implications 

13 of cancer predisposition, and serve as an impor14 tant model for understanding human develop15 ment and the molecular basis for certain birth 

16 defects; 

17 (B) recognizes that Federal support of 

18 comprehensive centers for rare disease patients 

19 enhances the ability for experienced doctors to 

20 provide the most complete care for each patient, 

21 leading to an increase in correct and early diagVerDate Aug 31 2005 06:13 Jun 28, 2007 Jkt 059200 PO 00000 Frm 00005 Fmt 6652 Sfmt 6201 E:\BILLS\HR524.IH HR524

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1 nosis and the most appropriate treatment for 

2 each patient; 

3 (C) commends Schneider Children’s Hos4 pital for providing the first DBA Comprehen5 sive Clinical Care Center for patients across the 

6 country, for developing the DBA Patient Reg7 istry which has proven a robust surveillance tool 

8 to understand the epidemiology, biology, and 

9 treatment of DBA, and for proving a valuable 

10 resource for investigators at a national level, 

11 working to understand DBA’s link to more 

12 prevalent disorders facing Americans; and 

13 (D) commends the Daniella Maria Arturi 

14 Foundation and the Diamond-Blackfan Anemia 

15 Foundation for their efforts to facilitate the 

16 successful collaboration among the National In17 stitutes of Health and the Centers of Disease 

18 Control and Prevention to achieve a successful 

19 multidisciplinary approach between clinical and 

20 scientific DBA efforts with the goal of short21 ening the life cycle of success realized between 

22 the laboratory and applied patient care; and 

23 (2) it is the sense of the House of Representa24 tives that the Federal Government has a responsi25 bility to— 


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1 (A) encourage further efforts to clarify the 

2 natural history of DBA to— 

3 (i) advance hematopoietic research in 

4 the areas of bone marrow failure disorders; 

5 (ii) develop a well-characterized data6 base of patients linked to a cell and DNA 

7 repository to facilitate gene discovery; 

8 (iii) understand the cellular and mo9 lecular biology of DBA; 

10 (iv) understand the links to cancer 

11 and birth defects; and 

12 (v) provide models for preclinical gene 

13 therapy trials; 

14 (B) continue efforts to raise awareness and 

15 ease access to information about DBA among 

16 patient groups and the medical community to 

17 improve accuracy of diagnosis and identification 

18 of appropriate treatment options available; 

19 (C) encourage research efforts that will ad20 vance the treatment options available to pa21 tients with DBA and seek a cure; 

22 (D) encourage the National Institutes of 

23 Health to develop a cross-institutional research 

24 initiative to study ribosomal protein deficiencies 

25 in rare inherited disease, including DBA, 


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1 among the relevant institute stakeholders inter2 ested in ribosome synthesis including— 

3 (i) the National Heart, Lung, and 

4 Blood Institute; 

5 (ii) the National Institute of Diabetes 

6 and Digestive and Kidney Diseases; and 

7 (iii) the National Cancer Institute; 

8 and 

9 (E) encourage the continued Federal sup10 port of the DBA Comprehensive Clinical Care 

11 Centers to further provide a definitive charac12 terization of the patients with DBA, which will 

13 expand research and clinical care in order to 

14 help manage this rare illness, while also ena15 bling hematologists, cancer researchers, geneti16 cists, basic scientists, and others to continue to 

17 utilize the Center to enhance the study of this 

18 disease to better understand its links to many 

19 other problems facing Americans relating to 

20 blood cell formation, cancer predisposition, 

21 birth defects, and more. 

Æ 


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