Abstract: The present disclosure relates to a non-invasive and allele-specific treatment, in particular for Machado-Joseph disease (MJD). The present disclosure uses RNA silencing technology (e.g. RNA interference) against exonic single nucleotide polymorphisms (SNPs) in the ataxin-3 gene, encoding the dominant gain-of-function mutant ataxin-3 protein, thereby resulting in an effective treatment for MJD. For that purpose, highly-target specific gene silencing RNAs, whose anti-sense sequences are complementary to SNPs that are in linkage disequilibrium with the disease-causing expansion, were designed and tested. Furthermore, this disclosure also relates to a selected adeno-associated viral vector, in particular serotype 9 (AAV9) as a gene delivery vector, upon which the said double stranded RNAs can be delivered into the central nervous system (CNS) by minimally invasive routes (e.g. intravenous administration), since this particular serotype efficiently crosses the blood-brain barrier (BBB).

Abstract: The present invention refers to a portable device for the collection of biological samples. The device comprises a receptacle (8) with a cover (2), which comprises a pierceable area (3) and may include a collection instrument (1), comprising a rod (4), and a collection arrangement at the end, which may include a solid matrix, for instance a sponge or a tampon (5). The receptacle (8) has a rounded or conical shaped bottom (10), at the center of which there is a conical or rounded-shaped projection (11), with one or more holes (12). The bottom of the receptacle (8) is in contact with a collector recipient through a system of close-aperture, which may comprise screw or a fitting system with protrusions (13). In this way, the device referred in the present invention allows for the collection, storage, transportation and separation of biological material without significant manipulation and without risk of cross-contamination.

Abstract: The present invention refers to a portable device for the collection of biological samples. The device comprises a receptacle (8) with a cover (2), which comprises a pierceable area (3) and may include a collection instrument (1), comprising a rod (4), and a collection arrangement at the end, which may include a solid matrix, for instance a sponge or a tampon (5). The receptacle (8) has a rounded or conical shaped bottom (10), at the center of which there is a conical or rounded-shaped projection (11), with one or more holes (12). The bottom of the receptacle (8) is in contact with a collector recipient through a system of close-aperture, which may comprise screw or a fitting system with protrusions (13). In this way, the device referred in the present invention allows for the collection, storage, transportation and separation of biological material without significant manipulation and without risk of cross-contamination.