Our goal for the RDCRC Administrative Unit is to provide an optimal environment to conduct carefully developed and monitored clinical and translational studies that will increase our knowledge about the causes of rare autonomic diseases, and facilitate the development of therapies than can make a significant difference in the lives of patients with these diseases. Ultimately we hope to be on a trajectory to find cures for them. Our consortium provides the intellectual capital and the breadth of reach into the Patient Advocate Groups (PAG) community to gain insight into the needs and aspirations of that community from the patients and the caregiver's perspective. By attention to the perspective of the PAGs we can tailor our approaches toward both needs of patients and the science that can be addressed to yield the cures that we seek. The PIs of this RDCRC renewal have a long relationship with the PAGs, growing out of the initial one about 20 years ago which focused on Shy-Drager Syndrome (now Multiple System Atrophy, MSA). That relationship has uniquely affected our understanding of the perspective of both patients and caregivers. The Administrative Unit brings RDCRC researchers, PAGs, and the ORDR onto common ground and enables us to work to find a cause and eventually an effective therapy for our patients. We also perceive that in an era of limited funding, we must share the responsibility, to the extent possible, of leveraging the support ORDR and NCATs can provide for the studies we need. In that context we have sought leveraging funds and, in the best current estimate, believe they will reach over $2 million. The administrative structures we have in place should lead to successful biomarker and therapeutic investigations that will improve the health of our patients.
Diseases of the nervous system such as multiple system atrophy strike people in midlife and lead to disability and death over 4-8 years. Our research aims to find the causes of these diseases and use that discovery to find ways to treat them, and hopefully, to eventually prevent them. We believe that the knowledge we gain could also help in understanding other serious diseases such as Alzheimer's disease and Parkinson's disease, which also currently have no cure.
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|Palma, Jose-Alberto (2016) Not all dysautonomias are created equal. Clin Auton Res 26:83|
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|GutiÃ©rrez, Joel V; Norcliffe-Kaufmann, Lucy; Kaufmann, Horacio (2016) Brainstem reflexes in familial dysautonomia. Reply to "Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation". Clin Neurophysiol 127:1749-50|
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|Norcliffe-Kaufmann, Lucy; Palma, Jose-Alberto; Kaufmann, Horacio (2016) Mother-induced hypertension in familial dysautonomia. Clin Auton Res 26:79-81|
|Merkel, Peter A; Manion, Michele; Gopal-Srivastava, Rashmi et al. (2016) The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis 11:66|
|Palma, Jose-Alberto; Norcliffe-Kaufmann, Lucy; Kaufmann, Horacio (2016) An orthostatic hypotension mimic: The inebriation-like syndrome in Parkinson disease. Mov Disord 31:598-600|
|Norcliffe-Kaufmann, Lucy; Kaufmann, Horacio; Martinez, Jose et al. (2016) Autonomic Findings in Takotsubo Cardiomyopathy. Am J Cardiol 117:206-13|
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