Abstract: The invention relates to a method for obtaining a set of reference samples and/or a set of reference parameters for the diagnosis of fetal aneuploidy from a maternal biological sample, containing cell-free DNA, said method comprising:—extracting cell-free DNA from a set of biological samples obtained from euploid pregnant women carrying a euploid fetus;—after the extraction step, analyzing the size distribution of the DNA molecules within each sample and selecting a set of samples based on the size distribution of the DNA molecules within said samples;—performing a massively parallel sequencing of DNA of each size-selected sample;—mapping the obtained sequences to the human genome for each sample;—calculating a set of reference parameters, wherein each reference parameter is indicative of the number of unique exact sequences mapped to a chromosome or chromosomal region of interest for each sample;—obtaining a set of reference samples and/or a set of reference parameters.

Abstract: The invention relates to a protein or peptide having superantigen (SAg) activity, said protein or peptide comprising the ENV protein of the human endogenous retrovirus HERV-W, the surface protein (SU) and transmembrane (TM) sub-units thereof, and fragments of HERV-W ENV and its subunits, particularly C-terminal fragments, which possess superantigen activity.

Abstract: The invention relates to a process for the diagnosis of a human autoimmune disease, including presymptomatic diagnosis, said human autoimmune disease being associated with human retrovirus (HERV) having Superantigen (SAg) activity, comprising specifically detecting in a biological sample of human origin at least one of the following: (I) the mRNA of an expressed human endogenous retrovirus having Superantigen (SAg) activity, or fragments of such expressed retroviral mRNA, said retrovirus being associated with a given autoimmune disease, or (II) protein or peptide expressed by said retrovirus, or (III) antibodies specific to the protein expressed by said endogenous, or (IV) SAg activity specifically associated with said endogenous retrovirus, detection of any of the species (I) to (IV) indicating presence of autoimmune disease or imminent onset of autoimmune disease.

Abstract: The invention relates to a process for the diagnosis of a human autoimmune disease, including presymptomatic diagnosis, said human autoimmune disease being associated with human retrovirus (HERV) having Superantigen (SAg) activity, comprising specifically detecting in a biological sample of human origin at least one of the following: (I) the mRNA of an expressed human endogenous retrovirus having Superantigen (SAg) activity, or fragments of such expressed retroviral mRNA, said retrovirus being associated with a given autoimmune disease, or (II) protein or peptide expressed by said retrovirus, or (III) antibodies specific to the protein expressed by said endogenous, or (IV) SAg activity specifically associated with said endogenous retrovirus, detection of any of the species (I) to (IV) indicating presence of autoimmune disease or imminent onset of autoimmune disease.

Abstract: The invention relates to a protein or peptide having superantigen (SAg) activity, said protein or peptide comprising the ENV protein of the human endogenous retrovirus HERV-W, the surface protein (SU) and transmembrane (TM) sub-units thereof, and fragments of HERV-W ENV and its subunits, particularly C-terminal fragments, which possess superantigen activity.

Abstract: The invention relates to polymorphic forms of the endogenous human retrovirus HERV-K18 and to methods for determining the genotype of an individual at the HERV-K18 locus. The invention also relates to the use of the HERV-K18 genotype in the identification of predisposition of individuals to disorders involving the HERV-K 18 retrovirus, for example insulin-dependent diabetes mellitus (IDDM). The invention further relates to the combination of HERV-K18 genotyping with genotyping of additional genetic loci which are also linked to IDDM, thus providing a more effective detection method.