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.
|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:|
|Gendron, Tania F; C9ORF72 Neurofilament Study Group; Daughrity, Lillian M et al. (2017) Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. Ann Neurol 82:139-146|
|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|
|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|
|Benatar, Michael; Boylan, Kevin; Jeromin, Andreas et al. (2016) ALS biomarkers for therapy development: State of the field and future directions. Muscle Nerve 53:169-82|
|Esanov, Rustam; Belle, Kinsley C; van Blitterswijk, Marka et al. (2016) C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells. Exp Neurol 277:171-177|
|Rebelo, Adriana P; Abrams, Alexander J; Cottenie, Ellen et al. (2016) Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. Am J Hum Genet 98:597-614|
|Rossor, Alexander M; Oates, Emily C; Salter, Hannah K et al. (2015) Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain 138:293-310|
Showing the most recent 10 out of 15 publications