```

[Congressional Bills 110th Congress]
[From the U.S. Government Publishing Office]
[H. Res. 524 Introduced in House (IH)]

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 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;
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;
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 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
    Resolved,  That--
            (1) the House of Representatives--
                    (A) recognizes that the identification of Diamond-
                Blackfan Anemia (in this resolution referred to as 
                ``DBA'') as the first human disorder with a ribosomal 
                deficiency is a primary example of the importance of 
                the Federal Government's continued support of DBA 
                research, which may advance the understanding of the 
                basic mechanisms that affect red cell production, 
                identify connections of ribosomal function and cell 
                cycle production, identify implications of cancer 
                predisposition, and serve as an important model for 
                understanding human development and the molecular basis 
                for certain birth defects;
                    (B) recognizes that Federal support of 
                comprehensive centers for rare disease patients 
                enhances the ability for experienced doctors to provide 
                the most complete care for each patient, leading to an 
                increase in correct and early diagnosis and the most 
                appropriate treatment for each patient;
                    (C) commends Schneider Children's Hospital for 
                providing the first DBA Comprehensive Clinical Care 
                Center for patients across the country, for developing 
                the DBA Patient Registry which has proven a robust 
                surveillance tool to understand the epidemiology, 
                biology, and treatment of DBA, and for proving a 
                valuable resource for investigators at a national 
                level, working to understand DBA's link to more 
                prevalent disorders facing Americans; and
                    (D) commends the Daniella Maria Arturi Foundation 
                and the Diamond-Blackfan Anemia Foundation for their 
                efforts to facilitate the successful collaboration 
                among the National Institutes of Health and the Centers 
                for Disease Control and Prevention to achieve a 
                successful multidisciplinary approach between clinical 
                and scientific DBA efforts with the goal of shortening 
                the life cycle of success realized between the 
                laboratory and applied patient care; and
            (2) it is the sense of the House of Representatives that 
        the Federal Government has a responsibility to--
                    (A) encourage further efforts to clarify the 
                natural history of DBA to--
                            (i) advance hematopoietic research in the 
                        area of bone marrow failure disorders;
                            (ii) develop a well-characterized database 
                        of patients linked to a cell and DNA repository 
                        to facilitate gene discovery;
                            (iii) understand the cellular and molecular 
                        biology of DBA;
                            (iv) understand the links to cancer and 
                        birth defects; and
                            (v) provide models for preclinical gene 
                        therapy trials;
                    (B) continue efforts to raise awareness and ease 
                access to information about DBA among patient groups 
                and the medical community to improve accuracy of 
                diagnosis and identification of appropriate treatment 
                options available;
                    (C) encourage research efforts that will advance 
                the treatment options available to patients with DBA 
                and seek a cure;
                    (D) encourage the National Institutes of Health to 
                develop a cross-institutional research initiative to 
                study ribosomal protein deficiencies in rare inherited 
                disease, including DBA, among the relevant institute 
                stakeholders interested in ribosome synthesis 
                including--
                            (i) the National Heart, Lung, and Blood 
                        Institute;
                            (ii) the National Institute of Diabetes and 
                        Digestive and Kidney Diseases; and
                            (iii) the National Cancer Institute; and
                    (E) encourage the continued Federal support of the 
                DBA Comprehensive Clinical Care Centers to further 
                provide a definitive characterization of the patients 
                with DBA, which will expand research and clinical care 
                in order to help manage this rare illness, while also 
                enabling hematologists, cancer researchers, 
                geneticists, basic scientists, and others to continue 
                to utilize the Center to enhance the study of this 
                disease to better understand its links to many other 
                problems facing Americans relating to blood cell 
                formation, cancer predisposition, birth defects, and 
                more.
                                 <all>
```