III 112th CONGRESS 2d Session S. RES. 490 IN THE SENATE OF THE UNITED STATES June 12, 2012 Mrs. Boxer (for herself, Mr. Menendez, Mr. Lieberman, Mr. Blumenthal, Mrs. Feinstein, Mrs. Shaheen, Mr. Webb, and Mr. Kerry) submitted the following resolution; which was referred to the Committee on Health, Education, Labor, and Pensions November 15, 2012 Committee discharged; considered and agreed to RESOLUTION Designating the week of September 16, 2012, as Mitochondrial Disease Awareness Week, reaffirming the importance of an enhanced and coordinated research effort on mitochondrial diseases, and commending the National Institutes of Health for its efforts to improve the understanding of mitochondrial diseases.

Whereas Brittany Wilkinson, the first Youth Ambassador of the United Mitochondrial Disease Foundation, joined other Youth Ambassadors of the United Mitochondrial Disease Foundation in working tirelessly to raise awareness about mitochondrial diseases; Whereas mitochondrial diseases result from a defect that reduces the ability of the mitochondria in a cell to produce energy; Whereas, as mitochondria fail to produce enough energy, cells cease to function properly and eventually die, leading to the failure of organ systems and possibly the death of the affected individuals; Whereas mitochondrial diseases can present themselves at any age, and mortality rates vary depending upon the particular disease; Whereas the most severe mitochondrial diseases result in the progressive loss of function in multiple organs, including the loss of neurological and muscle function, and death within several years; Whereas mitochondrial diseases are a relatively newly identified group of diseases, first recognized in the late 1960s, and diagnosis of mitochondrial diseases is extremely difficult; Whereas there are more than 100 identified primary mitochondrial diseases, but researchers believe there are several hundred other types of unidentified mitochondrial diseases and further research is necessary to help identify those diseases; Whereas mitochondrial dysfunction is associated with many diseases, such as Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, autism, diabetes, cancer, and many other diseases associated with aging; Whereas research into primary mitochondrial diseases can provide applications to biomedical research and a window into our understanding of many other diseases, including possible treatments and cures for diseases such as Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, autism, diabetes, cancer, and many other diseases associated with aging; Whereas researchers estimate that one in 4,000 children will develop a mitochondrial disease related to an inherited mutation by 10 years of age, and recent studies of umbilical cord blood samples show that one in 200 people could develop a mitochondrial disease in their lifetime; Whereas researchers also believe that those numbers could be much higher, given the difficulty associated with diagnosing mitochondrial disease and the many cases that are either misdiagnosed or never diagnosed; Whereas there are no cures for mitochondrial diseases, nor are there specific treatments for any of those diseases; Whereas human energy production involves multiple organ systems, and therefore primary mitochondrial diseases research involves many Institutes at the National Institutes of Health; Whereas, according to the National Institutes of Health, more than $600,000,000 is being spent on research related to mitochondrial functions, of which $18,000,000 is being spent on actual primary mitochondrial diseases research; Whereas the National Institutes of Health has taken an increased interest in primary mitochondrial diseases and has sponsored a number of activities in recent years aimed at advancing mitochondrial medicine, including incorporating research into functional variations in mitochondria in the Transformative Research Awards Initiative; Whereas, in March 2012, the National Institutes of Health convened a 2-day symposium entitled Translational Research in Primary Mitochondrial Diseases: Obstacles and Opportunities, which brought together leading government and private sector researchers and drug developers to share information related to primary mitochondrial diseases, develop systems to facilitate future collaboration, survey obstacles, needs, and priorities of primary mitochondrial diseases research, and develop mechanisms to enhance translation of basic science discoveries to diagnostics and therapeutics; and Whereas, as a consequence of the symposium, a white paper has been developed that identifies current research challenges and impediments and a suggested course of action to address those challenges: Now, therefore, be it

That the Senate— (1)designates the week of September 16, 2012, as Mitochondrial Disease Awareness Week; (2)reaffirms the importance of an enhanced and coordinated research effort aimed at improving the understanding of primary mitochondrial diseases and the development of treatments and cures; (3)commends the National Institutes of Health for its efforts to organize the symposium entitled Translational Research in Primary Mitochondrial Disease: Obstacles and Opportunities to improve the understanding of mitochondrial diseases and to enhance collaboration and chart a course for the future with respect to research on mitochondrial diseases; (4)encourages the National Institutes of Health to place a greater priority on research into primary mitochondrial diseases, to continue to explore the connections between mitochondrial dysfunction and other systemic diseases, and to promote collaboration and coordination among the Institutes of the National Institutes of Health and with other organizations; and (5)encourages the National Institutes of Health to consider the recommendations and address research directions identified in the white paper developed from the symposium described in paragraph (3), including— (A)enhanced emphasis on research regarding basic mitochondrial physiology, variations in mitochondrial function in different body tissues, and improvements in the manipulation of mitochondrial DNA; (B)supporting research that will provide the basis for drug development, including improved mouse models, efforts to achieve breakthroughs in in vivo research capability, consensus development around assays, and next generation sequencing; (C)expansion and support of stable, long-term patient registries and biospecimen repositories in collaboration with patient advocacy groups to promote enrollment and ultimately pave the way for natural history trials; and (D)the establishment of a working group to develop a system for the continued interaction among the Institutes within the National Institutes of Health and with other organizations and the establishment of a website on research on primary mitochondrial diseases.