ELIXIR releases its annual report
ELIXIR aims to orchestrate the collection, quality control and archiving of large amounts of biological data produced by life science experiments, thus making it easily available to researchers internationally. The ELIXIR Platforms comprise Data, Tools, Interoperability, Compute and Training, forming the basic operational units within ELIXIR. They have released their annual report which details the new phase that expands resources and brings together expertise, at the same time concentrating on service delivery.
The report details that the the five technical platforms - Tools, Data, Compute, Interoperability and Training to be used in Plant sciences, Marine metagenomics, Rare diseases and Human data are now fully operational. According to the report the Horizon 2020 ELIXIR-EXCELERATE grant launched in 2015, will accelerate the implementation of the ELIXIR scientific programme and integrate ELIXIR bioinformatics resources into a coherent portfolio of infrastructure services. They also built strong collaborations. In the beginning of 2015 ELIXIR had 12 Members and six Observers and welcomed France, Spain and Belgium, which completed the ratification process and became fully integrated into ELIXIR activities. Other countries are in the preparatory phase and have joined as observers and expanding outside Europe.
As particular interest to the Rare Disease field, the report describes the main goals of the ELIXIR Rare Disease Use Case which are to:
• "Build an ELIXIR portfolio of data resources and analysis tools critical for the rare disease research community;
• Implement a technical framework for the comparison and standardisation of services useful for this community;
• Arrange training courses, workshops and hackathons to train rare disease researchers to use ELIXIR services and capture the specific service requirements of this community."
Prof. Kate Bushby was appointed in ELIXIR’s Scientific Advisory Board this year to offer advice to the ELIXIR board on rare diseases.
According to the report, in 2015 "ELIXIR launched a joint initiative with RD-CONNECT, Biobanking and Biomolecular Resources Research Infrastructure – the Netherlands (BBMRI-NL) and BBMRI-ERIC to create a federated infrastructure for access to rare-disease repositories throughout Europe.".
Additionally, in the framework of the ELIXIREXCELERATE Rare Disease Use Case, "ELIXIR will test different technologies and find those best suited to link different resources and tools to better serve the rare disease community."
France became a member of ELIXIR in October 2015. The French node of ELIXIR is the French Institute of Bioinformatics and Orphanet officially became its 30th platform in 2015. Orphanet will participate in the ELIXIR implementation study for rare diseases in the context of EXCELERATE project. Its aims, among others, is to provide standards for the exchange of rare disease data and work with the communities of rare diseases towards organising training and workshops. A key objective of ELIXIR is to work towards the sustainability of resources and tools such as those offered by Orphanet, strategic measure for the future Orphanet.
Read the Report
Genetics and Genomic Medicine around the World has published an exhaustive review on how the past, present and future of clinical genetics in Spain. The article puts the advent of genetics and genomics in Spain in a historical and economic perspective. They also put it in the context of the demographics and the screening programmes including newborn screening in the country. The authors finally describe the genetic and clinical services as well as the cutting edge research performed in this area by CIBERER. According to them CIBERER has recommended that the Spanish government should facilitate the creation of genomic centres, following other European countries like France, Germany, UK and Italy. 
According to an article published in Nature Biotechnology, although drugs for Duchenne Muscular Dystrophy have been slow to receive marketing authorisation, the future looks promising. The drugs in the pipeline include advanced versions of the exon-skipping technology as well as gene therapies. According to the article, a gene therapy trial using truncated dystrophin protein by Mendell is underway, so is a therapy using ’stereopure’ oligonucleotides to boost exon skipping efficiency and the usage of utrophin to compensate for dystrophin protein. Also described is a coenzyme Q10 analog which counters the effects of reactive oxygen species in the mitochondria, caused by excess calcium influx to be used as therapy for DMD. According to the article “curative therapy for DMD remains some way off, but children born with the condition now have better prospects than any who have preceded them.” 
