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.
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.
|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|
|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|
|Finch, NiCole A; Wang, Xue; Baker, Matthew C et al. (2017) Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers. Neurol Genet 3:e161|
|DeJesus-Hernandez, Mariely; Finch, NiCole A; Wang, Xue et al. (2017) In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta Neuropathol 134:255-269|
|Gendron, Tania F; Chew, Jeannie; Stankowski, Jeannette N et al. (2017) Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis. Sci Transl Med 9:|
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