Disability, EU law and the CRPD: A New Dawn?

This paper will examine the definition of disability in anti-discrimination employment law in Europe. This paper reviews some of the approaches to defining disability both within the European Union and by the European Union. The underlying theme of this paper is to assess what if any impact the European Union’s ratification of the United Nations Convention on the Rights of Persons with Disabilities (CRPD) will have on those definitions. The CRPD is a significant development for persons with disabilities, described by some commentators as “ground breaking.”2 It is ground breaking for a number of reasons, but most significantly for ensuring that it embodies the social model of disability.3 The main focus of this paper is to assess whether the various definitions of disability perpetuate the medical/individual model of disability or support the social model of disability and to determine the most appropriate approach to the definition within the EU.Peer reviewe

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.

Contains fulltext : 50715.pdf (publisher's version ) (Closed access)The phenotype of common variable immunodeficiency (CVID) is characterized by recurrent infections owing to hypogammaglobulinemia, with deficiency in immunoglobulin (Ig)G and at least one of IgA or IgM. Family studies have shown a genetic association between CVID and selective IgA deficiency (IgAD), the latter being a milder disorder compatible with normal health. Approximately 20-25% of CVID cases are familial, if one includes families with at least one case of CVID and one of IgAD. Nijenhuis et al described a five-generation family with six cases of CVID, five cases of IgAD, and three cases of dysgammaglobulinemia. We conducted a genome-wide scan on this family seeking genetic linkage. One interval on chromosome 4q gives a peak multipoint LOD score of 2.70 using a strict model that treats only the CVID patients and one obligate carrier with dysgammaglobulinemia as affected. Extending the definition of likely affected to include IgAD boosts the peak multipoint LOD score to 3.38. The linkage interval spans at least from D4S2361 to D4S1572. We extended our study to a collection of 32 families with at least one CVID case and a second case of either CVID or IgAD. We used the same dominant penetrance model and genotyped and analyzed nine markers on 4q. The 32 families have a peak multipoint LOD score under heterogeneity of 0.96 between markers D4S423 and D4S1572 within the suggested linkage interval of the first family, and an estimated proportion of linked families (alpha) of 0.32, supporting the existence of a disease-causing gene for autosomal-dominant CVID/IgAD on chromosome 4q