Rare Diseases Day 2015: day-by-day, hand-in-hand
The photo is of 4-year-old Thaïs and her 6-year-old brother Matthieu from France hand in hand against their rare disease. They both have Hurler syndrome, a variant of mucopolysaccharidosis type 1 (Photo courtesy: EURORDIS photo competition)
Today officially marks the eight International Rare Disease Day, but events have been unfolding all week and all around the world. This years’ slogan – day-by-day, hand-in-hand - urges us to join hands and help each other towards achieving better health care, greater awareness and improved collaborations. There is not enough space to elaborate all of the activities being planned by patient organisations, scientific bodies, government representatives, members of industry, health professionals and others. Activities are unfolding across continents and 88 countries with many participating in the iconic show of hands. Several conferences and policy events have taken place across the world as a prologue to Rare Disease Day to build on successful partnerships and to foster the dynamic needed to work towards future goals.
Have you watched the inspiring official Rare Disease Day video!
The video was created with the help of UNIAMO, the Italian National Rare Disease Alliance, under the brilliant direction of Carlo Hintermann, animators Lulu Cancrini and Marco Varriale and all of their team, who volunteered their time to produce it. The participants Rita, Pietro and Beatrice who are each living with a rare disease, as well as their family members who accompanied them to filming the video represent the thought of many rare disease patients and their families and people are showing their love and appreciation in leaps and bounds as the video has garnered more than 40,000 likes.
OrphaNews International wishes you an eventful and productive day and thank all the groups that are making an effort to put rare diseases on the agenda of topics that merit awareness, action and funding.
A review published in Trends in Genetics expresses concern over certain aspects of the new policy governing the use and release of data generated by US National Institutes of Health (NIH)-funded genomic studies, issued in August 2014. The first framework for genetic data by leaders of Human Genome Project (1996) required the release of all genetic data after 24 hours of generation, which was changed in the NIH 2007 Genome-Wide Association Study (GWAS) policy where a 6 month embargo on the data could be permitted. However, due to certain embargo violations, the 2014 Genome Data Sharing (GDS) policy stated that human genomic data must be submitted within 3 months after generation, which may be retained by NIH for up to 6 months before public release. The policy included non-human and model-organism genetic data for the first time, but under this policy, these data can be retained by the producers until their initial analyses are published. 
In a commentary published in Molecular Genetics and Genomic Medicine, provision of medical genetics services in the Slovak Republic has been described. The authors state that Slovakia has the network and structural capabilities to provide high-level genetic services to its patients, but they lack financial resources. The authors point out that the National Health Information Centre Medical (NHIC ) genetics legislation which demands compulsory reporting of congenital abnormalities has helped the creation of the Genetic Registry in Slovakia. The NHIC also host the National Registry for Congenital Heart Defects as well as the National Cancer Registry – including rare cancers. . Additionally, the Slovak Republic Government published the “National strategy for improvement of healthcare provided to patients affected with rare disorders for years 2012–2013;” whereby Health ministry experts instituted the “National plan for improvement of healthcare provided to patients affected with rare disorders in SR” to institute better care for rare disease patients. 
The first version of the OSSE registry framework created on behalf of the German Federal Ministry of Health was released at January 1st, 2015. The OSSE registry framework allows you to build your individual rare disease registry without additional programming effort including a set of basic data forms and longitudinal data forms, workflow support and role-based access control. Data entry forms rely on metadata stored in a central metadata repository, which will in the long-term lead to a new level of interoperability between registries of rare diseases. For example, your registry can participate in a cross-registry decentral search infrastructure connecting you with potential research partners while preserving your data sovereignty. The built-in pseudonymization provides not only “out of the box” support of the open source product “Mainzelliste” (or compatible pseudonymization software) including duplicate detection, but also allows authorized persons to display medical and identifying data on the same webpage while preserving the informational separation of powers. Current installation packages, guides and further information can be downloaded at 
An article published in The Application of Clinical Genetics describes the success of the Australian high-school-based Tay-Sachs disease (TSD) preconception genetic screening programs aim to screen, educate, and optimise reproductive choice for participants. TSD is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. The authors observe that these high school screening programmes have demonstrated high uptake, low psychological morbidity, and have been shown to result in fewer than expected Jewish TSD-affected births over 18 years of operation. Additionally, "in Australia, recent recommendations advocate supplementing the community high school screening programs with general practitioner- and obstetrician-led genetic screening of Ashkenazi Jewish individuals for TSD and other severe recessive diseases for which this group is at risk". 
An article published in Genetics in Medicine show that the Cystic Fibrosis (CF)- newborn screening (NBS) procedure implemented in France is an effective strategy for that could be easily applied in other countries. NBS for CF was implemented throughout France in 2002 which involved a four-tiered procedure: immunoreactive trypsin (IRT)/DNA/IRT/sweat. This study assessed the performance of molecular cystic fibrosis transmembrane conductance regulator (CFTR) gene analysis from the French NBS cohort, to evaluate CF incidence, mutation detection rate, and allelic heterogeneity. The authors utilised the newborn screening data collected by the Association Francaise pour le Depistageet la Prevention des Handicaps de l’Enfant and classified the identified mutations based on their potential for causing disease, to propose a diagnostic algorithm. The authors reported that the screening test along with a comprehensive CFTR gene analysis, provides an excellent detection rate of "99.77% for the mutated alleles, enabling the identification of a complete genotype in 99.55% of affected neonates". The authors believe that the "sensitivity, specificity, and positive predictive value obtained suggest that the four-tiered IRT/DNA/IRT/sweat test procedure may provide an effective strategy for newborn screening for cystic fibrosis". 
