Scientists

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder phenotypically characterised by many features of premature aging.

Spinal Muscular Atrophy (SMA) describes several different diseases that are characterised by degeneration of alpha motoneurons in the brainstem and spinal cord.

Frontotemporal dementia with Parkinsonism linked to Chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder.

Familial Dysautonomia (FD) (also Riley-Day syndrome, hereditary sensory and autonomic neuropathy type III) is a recessive disease that is caused by loss of function of the I-kappa-B kinase complex

Medium-chain acyl-CoA dehydrogenase (MCAD) is a mitochondrial enzyme that participates in the degradation of medium chain length fatty acids.

Organisers: Giuseppe Biamonti, IGM-CNR Pavia, Italy
Ian Eperon, Department of Biochemistry, Leicester, UK

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Marcucci, R., Romano, M., Feiguin, F., O'Connell, M., Baralle, F.E. Dissecting the splicing mechanism of the Drosophila editing enzyme; dADAR. 2009. Nucleic Acids Res. (in press)