available from early 2018, one year, renewable
Myotonic dystrophy type 1 (DM1) is a dominantly multisystemic inherited disorder. The adult onset form presents variable symptoms including distal muscle weakness, myotonia, presenile cataracts, cardio-respiratory problems, as well as intellectual disability and behavioural deficits. The most severe form of DM1, the congenital form (CDM), is characterised by general hypotonia, respiratory distress and feeding problems at birth as well as delayed motor development and intellectual disability. The genetic mutation causing DM1 has been identified as an unstable expanded CTG repeat, in the 3’-untranslated region (3’-UTR) of a gene encoding the protein kinase DMPK. The research project aims to study CDM features and the mechanisms involved using transgenic mice and molecular, histological and physiological approaches.
We are looking for a highly motivated and independent candidate with a PhD and expertise in molecular biology and muscle or CNS physiology. Experience in neuromuscular diseases will be an advantage.
CTGDM laboratory at the Imagine Institute, Paris, France
We look forward to receiving application containing a CV, list of publications, a letter of motivation, as well as names and phone number to two referees via e-mail to email@example.com
Publications relevant for the project:
- Michel L, Huguet-Lachon A, Gourdon G. Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development. PLoS One. 2015 Sep 4;10(9):e0137620. doi: 10.1371/journal.pone.0137620.
- Hernandez-Hernandez, O, C. Guiraud-Dogan, G, Sicot, et al. Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour. Brain, 2013. 136: p. 957-970.
- Huguet, A, Medja F, Nicole A et al. Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying > 1,000 CTG Repeats from the Human DM1 Locus. Plos Genetics, 2012. 8(11).
- Gomes-Pereira M, Foiry L, Nicole A et al. CTG trinucleotide repeat “big jumps”: large expansions, small mice. PloS Genetics, 2007 6;3(4):epub52
- Seznec H, Agbulut O, Savouret C, et al. (2001) Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Human Molecular Genetics, 2001,10 :2717-2726.
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