TRAINING UNIT Our success in unraveling the biology of rare diseases and in developing effective therapies for conditions such as ALS and related disorders depends critically on our engendering and nurturing a cadre of new clinician scientists in whom the spark of rare disease research has been ignited, and who will carry the torch of rare disease clinical research into the future. This will be accomplished by identifying and recruiting talented and highly motivated young people who wish to pursue a career in clinical research focused on ALS and related disorders. Trainees will be provided with an education in clinical research methodology, the science of rare disease research, grant writing and issues specifically relevant to ALS and related disorders. The consortium will foster trainee career development through mentorship and immersion in a clinical and scientific environment that is colaborative, supportive and rich in opportunity.

Public Health Relevance

Developing a cadre of young well-trained clinician-scientists focused on clincal-translational research focused on ALS and related disorders is critical to our collective success in developing effective therapies for this group of rare diseases.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
1U54NS092091-01
Application #
8929491
Study Section
Special Emphasis Panel (ZTR1-CI-8 (01))
Program Officer
Gubitz, Amelie
Project Start
2014-09-30
Project End
Budget Start
2014-09-30
Budget End
2015-06-30
Support Year
1
Fiscal Year
2014
Total Cost
$96,607
Indirect Cost
$13,375
Name
University of Miami School of Medicine
Department
Type
DUNS #
052780918
City
Coral Gables
State
FL
Country
United States
Zip Code
33146
Nicolas, Aude (see original citation for additional authors) (2018) Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron 97:1268-1283.e6
Wilke, Carlo; Rattay, Tim W; Hengel, Holger et al. (2018) Serum neurofilament light chain is increased in hereditary spastic paraplegias. Ann Clin Transl Neurol 5:876-882
Lassuthova, Petra; Rebelo, Adriana P; Ravenscroft, Gianina et al. (2018) Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet 102:505-514
Chen, Jacqueline; Kostenko, Volodymyr; Pioro, Erik P et al. (2018) MR Imaging-based Estimation of Upper Motor Neuron Density in Patients with Amyotrophic Lateral Sclerosis: A Feasibility Study. Radiology 287:955-964
Pottier, Cyril; Rampersaud, Evadnie; Baker, Matt et al. (2018) Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report. Amyotroph Lateral Scler Frontotemporal Degener 19:469-471
Schöls, Ludger; Rattay, Tim W; Martus, Peter et al. (2017) Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain 140:3112-3127
Esanov, Rustam; Cabrera, Gabriela Toro; Andrade, Nadja S et al. (2017) A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD. Mol Neurodegener 12:46
Mackenzie, Ian R; Nicholson, Alexandra M; Sarkar, Mohona et al. (2017) TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron 95:808-816.e9
Prudencio, Mercedes; Gonzales, Patrick K; Cook, Casey N et al. (2017) Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients. Hum Mol Genet 26:3421-3431
Jacquier, Arnaud; Delorme, Cécile; Belotti, Edwige et al. (2017) Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death. Acta Neuropathol Commun 5:55

Showing the most recent 10 out of 23 publications