A new expert group on rare diseases for 2014 to replace the EUCERD
The European Commission has recently announced the nominations for the Commission Expert Group on Rare Diseases, which replaces the European Committee of Experts on Rare Diseases (EUCERD).
This multi-stakeholder group is made up of representatives of the European Union Member States’ competent authorities, patient organisations in the field of rare diseases, representatives of professional societies or associations in the field of rare diseases, representatives of producers of products or service providers relevant for patients affected by rare diseases, and experts having experience in the field at Union level. The group will be chaired by the European Commission. The new expert group on rare diseases will meet for the first time on 11-12 February 2014 in Luxembourg.
The need for high-quality biospecimens is an important factor that furthers our understanding of human disease. An article published in Expert Opinion on Orphan Drugs has described progress in providing exploitable biospecimens to benefit researchers, patients and medical professionals, especially in the area of rare disease. In order for biospecimens to be appropriately used, the quality of sample collections is of critical importance. In fact, the term Biospecimen Science has been coined to describe the field of study that examines biospecimen pre-analytical factors and their effects on molecular integrity. The authors describle 2 dedicated initiatives that have been launched to systematically investigate Biospecimen Science: the US National Cancer Institute’s (NCI) Biospecimen Research Network program (BRN) and the European Union’s Standardisation and Improvement of Generic Pre-Analytical Tools and Procedures for in vitro Diagnostics (SPIDIA) Consortium. Additionally, 2 initiatives are underway to encourage the recording of biospecimen pre-analytical factors. These include Biospecimen Reporting for Improved Study Quality (BRISQ) and Standard PRE-analytical Coding (SPREC) for biospecimens. 
TMF – Technology, Methods, and Infrastructure for Networked Medical Research is the umbrella organisation for networked medical research in Germany. It is the platform for interdisciplinary exchange as well as cross-project and cross-location cooperation in order to identify and solve the organizational, legal/ethical and technological problems of modern medical research. Solutions range from expert opinions, generic concepts, and IT applications to checklists, practical guides, training, and consultation services. The TMF makes these solutions available to the public free of charge.
An article published in Journal of Medical Ethics explores parental perceptions and experiences regarding the return of genomic incidental research findings in children with rare diseases. The authors invited parents of children affected by various rare diseases to participate in focus groups or individual telephone interviews in Montreal and Ottawa. The authors reported that overall parents believed they should be made aware of all results pertaining to their child’s health status, and that they are responsible for transmitting this information to their child, irrespective of disease severity. Despite potential negative consequences, respondents generally perceived a favourable risk-benefit ratio in receiving all incidental findings. Understanding how parents assess the risks and benefits of returning incidental findings is essential to genomic research applications in paediatric medicine. The authors believe the study findings will contribute to establishing future best practices, although further research is needed to evaluate the impact of parental decisions on themselves and their child. 
To the disappointment of many, the saga of the controversial stem cell therapy in Italy continues. As previously reported by OrphaNews Europe, this stem cell therapy is mired in controversy as no scientific basis for the success of this therapy has been shown. The company, Stamina Foundation appears to be tugging at the heart strings of patients, many rare disease patients, who have limited treatments available to them, to further their agenda. In an unfortunate move, the regional administrative court in Rome, Italy ruled in December 2013, that an expert committee behind a detailed report that demolished the scientific basis for the clinical trial of the claimed stem cell treatment was unlawfully biased. The court argued that the committee lacked balance because most members were known opponents of the Stamina approach. It also complained that the committee had failed to look at documentation of Stamina’s claims to treatment successes (something beyond its mandate). 
