Edition of 31 August 2018

The RD-Connect Community is an independent, not-for-profit, international association aimed at connecting clinicians, academics, geneticists, bioinformaticians, ethicists, patient advocates and policy makers. The Community’s mission is to promote, facilitate and accelerate rare disease research by maximising the availability and (re)use of rare disease data and biosamples in a secure and regulated way. Importantly, the Community will also ensure the work of the RD-Connect project continues beyond the first EU funding period finishing 31 Octobre 2018.

The Community is led by Ivo Gut from Centro Nacional de Análisis Genómico in Barcelona, Spain, who is the current scientific coordinator of RD-Connect. The previous RD-Connect coordinator, Hanns Lochmüller, remains involved in the Community as the past chair. The Community’s Executive Committee now includes members from BBMRI-ERIC and ELIXIR as well as an additional patient representative in addition to representation from EURORDIS, the European Organisation for Rare Diseases.

The results of the study "Enhancing information provision to patients", funded under the third EU Health Programme, show that patients are still unaware of their access to health services in other Member States, as well as the existence of National Contact Points (NCPs) to help them exercise their rights in the context of the Cross-Border healthcare Directive. In January, ANEC's online questionnaire showed that only 47% of respondents knew they could be reimbursed for health care abroad and that only one in four people knew about the NCPs that were set up to answer questions on this topic.

This new European study has also shown that, although the information available on NCP sites is adequate, the websites themselves need improvements, especially the sections on patient rights, quality standards and patient safety and reimbursement of cross-border costs. This study will improve the level of information provided and available to patients, allowing NCPs to be adapted to the needs. It will therefore support better provision of information to patients in need of cross-border care, which is of paramount importance for patients with rare diseases who often need to consult experts from abroad through European Reference Networks.

Two organisations, the Global Alliance for Genomics and Health (GA4GH) and the transnational collaboration International Rare Diseases Research Consortium (IRDiRC), sponsored the creation of a comprehensive information model (a metadata standard) for content and data use conditions. This provides for a systematic, structured, computer-readable way to share biomedical data. The Automatable Discovery and Access Matrix (ADA-M) was released online in late 2016 and benefits of online documentation, software support, video guides and of an Application Programming Interface (API).

The Exomiser was developed to enable rapid and accurate identification of rare disease causing variants in whole-exome or whole-genome sequencing data. The software is publicly available as an offline command-line tool, or on the web as a demo application or teaching tool.

The OxO reference repository will provide access to ontology mappings and cross-references between ontologies extracted from several data sources. OxO is equipped with a web interface and an API to graphically explore mappings and allow users to locate where they intersect, allowing gaps to be explored when direct mapping is missing between two given ontologies. It is also a platform that allows users to collaborate and improve existing maps.

An open-access study recently published in PeerJ presents a new approach to produce phenotypic abnormality HPO term associations to both GO terms and human genes/proteins, called "HPO2GO". The biological relevance of the selected HPO2GO mappings was discussed in the study using existing scientific literature. This work also presented an application of the cross-ontology term mapping approach by generating HPO-protein associations. This promising application, meaning datasets, results and the source code of HPO2GO are available for download.

In July 2018, the Translational Genomics Research Institute (TGen) opened a tissue donation portal aimed at advancing research concerning Diffuse Intrinsic Pontine Glioma (DIPG). TGen’s researchers are building a tumor atlas aimed at helping scientists understand the underlying causes of this disease, and help find a cure.

A study published in Child: Care, Health and Development demonstrates the feasibility of creating an EU-based research database on Rett syndrome projects. It provides a source of information on research development which is useful for individuals, organizations and key players in the private and public sector to make progressive decisions on Rett syndrome research.

In response to heterogeneities between rare disease patient registries, and in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, authors of a review in the International Journal of Environmental Research and Public Health reported on a list of recommendations to be used as a framework for improving the quality of rare disease registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new registries.

A new special report of the Hastings Center Report calls for nuanced use of sequencing technologies as the cost of these technologies decreases. The authors highlight the economic costs for interpretation of the data and psychosocial costs of predicting one's life plans depending on genetic tests. While they concede the use of genome-wide sequencing, they argue that it should not be implemented as routine infant primary care.

A study published in JAMA Network Open investigated the characteristics of physician empathetic statements during pediatric intensive care unit care conferences, using 68 transcripts of audio-recorded care conferences involving 30 physicians, 179 family members and 68 children. The authors of the study concluded that physicians responded frequently with empathy, but that responses were buried within other pieces of medical data, thus not allowing family members to respond. When physicians allowed time for families to respond, thy were in fact more likely to learn important information about the family's fears, values and motivations.

Authors of an article published in Orphanet Journal of Rare Diseases assessed alexithymia and stress in a multicenter, exploratory study of children affected by hereditary angioedema with C1-inhibitor deficiency. They concluded that alexithymia (meaning the inability to recognize emotions and their subtleties and textures) was common in children with chronic diseases, and that in the case of hereditary angioedema with C1-inhibitor deficiency, it may result in increased perceived stress and act as a trigger of edema attacks. The authors highlighted the need to consider psychological factors in the care of these children.