Abstract

The overall goal of the training component is the development of successful, independent, clinical and translational investigators who focus on the study of rare diseases and are able to lead a multidisciplinary team. The training of the scholar will be integrated into the clinical and translational training of the home institution (e.g., the Clinical and Translational Sciences Institute at UCSF). We will support advanced postdoctoral or clinical fellows (who will be independent investigators within the next year), junior faculty, or established investigators who wish to develop or refocus their careers on clinical research in rare diseases.
Aim : To recruit and train highly qualified investigators in rare disease research.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
2U54NS065705-06
Application #
8913456
Study Section
Special Emphasis Panel (ZTR1)
Program Officer
Moy, Claudia S
Project Start
Project End
Budget Start
2014-09-30
Budget End
2015-07-31
Support Year
6
Fiscal Year
2014
Total Cost
Indirect Cost

  Institution

Name
University of California San Francisco
Department
Type
DUNS #
City
San Francisco
State
CA
Country
United States
Zip Code
94143

  Publications

Pawlikowska, Ludmila; Nelson, Jeffrey; Guo, Diana E et al. (2018) Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia. Mol Genet Genomic Med 6:350-356
De la Torre, Alejandro J; Luat, Aimee F; Juhász, Csaba et al. (2018) A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome. Pediatr Neurol 84:11-20
Meybodi, Ali Tayebi; Kim, Helen; Nelson, Jeffrey et al. (2018) Surgical Treatment vs Nonsurgical Treatment for Brain Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia: A Retrospective Multicenter Consortium Study. Neurosurgery 82:35-47
Wellman, Rebecca J; Cho, Su Bin; Singh, Pratibha et al. (2018) G?q and hyper-phosphorylated ERK expression in Sturge-Weber syndrome leptomeningeal blood vessel endothelial cells. Vasc Med :1358863X18786068
Morrison, Melanie A; Payabvash, Seyedmehdi; Chen, Yicheng et al. (2018) A user-guided tool for semi-automated cerebral microbleed detection and volume segmentation: Evaluating vascular injury and data labelling for machine learning. Neuroimage Clin 20:498-505
Walcott, Brian P; Winkler, Ethan A; Zhou, Sirui et al. (2018) Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing. Hum Genome Var 5:18001
Kasthuri, Raj S; Montifar, Megan; Nelson, Jeffrey et al. (2017) Prevalence and predictors of anemia in hereditary hemorrhagic telangiectasia. Am J Hematol :
Zou, Xiaowei; Hart, Blaine L; Mabray, Marc et al. (2017) Automated algorithm for counting microbleeds in patients with familial cerebral cavernous malformations. Neuroradiology 59:685-690
Tang, Alan T; Choi, Jaesung P; Kotzin, Jonathan J et al. (2017) Endothelial TLR4 and the microbiome drive cerebral cavernous malformations. Nature 545:305-310
Strickland, Corinne D; Eberhardt, Steven C; Bartlett, Mary R et al. (2017) Familial Cerebral Cavernous Malformations Are Associated with Adrenal Calcifications on CT Scans: An Imaging Biomarker for a Hereditary Cerebrovascular Condition. Radiology 284:443-450

Showing the most recent 10 out of 49 publications