RD-Connect Publications

4 September 2014


Over the past year, more than 30 articles citing or acknowledging RD-Connect have been published in journals such as Nature Reviews Genetics, The Lancet Oncology and the European Journal of Human Genetics. Articles range from basic research to policy and ethical, legal and social Issues and can be found in the Scientific Publication area of the RD-Connect website.

The most recent publication to acknowledge RD-Connect comes from Boczonadi et al., 2014 who published their original research article, EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia, in this month’s Nature Communications. Whole genome sequencing was used to identify homozygous mutations in EXOSC8 which codes for a protein belonging to the central component of the exosome in patients with profound infantile neurodegenerative disease combining features of cerebellar and corpus callosum hypoplasia, hypomyelination and spinal muscular atrophy.

In another article, Incidental findings: the time is not yet ripe for a policy for biobanks, Viberg et al., 2014 discuss the arguments for and against the disclosure of incidental findings in biobanks research. Similarly, in their short communication in Lancet Oncology, Hansson et al., 2013 discuss how simplifying the ethical review and consent procedures in rare disease research would result in benefits to patients (Patients would benefit from simplified ethical review and consent procedure).

Publications about the key resources and bioinformatics tools that are being integrated into the RD-Connect platform such as Yabi, COEUS and the Human Phenotype Ontology are also featured on the website.

For a full list of Scientific Publications click here