European Conference for RD conference: a landmark success
With over 760 attendees from over 40 countries, the European Conference for Rare Diseases was more than a grand success. This was one conference, which truly represented all stakeholders of rare diseases and especially the concerns of the patients and the families. It presented how old problems have been tackled and new challenges are being looked at. An inspiring 2 days, and an additional day for pre-conference tutorials, that brought us back with renewed motivation and vigour.
During the opening plenary, the young patient advocates panel (pictured below) brought together six representatives, from different countries across Europe and around the world to take to the stage and share their unique perspectives about the future of patient advocacy and how young people are creating change in the field of rare diseases.
The pre-conference tutorials were very informative whose aim was to elucidate certain topics that could be deemed complex as well as gave a sense of how an attendee could make the most out of the 2 day, idea-packed conference.
The attendees were spoilt for choice as they had to choose from 6 themes that ran concurrently, each more interesting than the other. The themes were:
Game Changers in Research
The speakers of this theme spoke extensively on the move from research to diagnosis of new technologies with the patient at the centre of new developments. Topics were around the interplay between public and private funding streams for research, and on some of the breakthroughs which have impacted on patient care, some of which have been enabled by innovative funding models. The discussion also covered research in the delivery of new therapies to patients and how this can be enabled in a sustainable manner.
Game Changers in Diagnosis
In this theme attendees, explored the scientific, clinical, societal, ethical and practical questions that the patients and families find themselves and gain and retain a sense of control over their lives to the fullest extent possible. How patients struggle with getting a diagnosis, how patients can be helped obtaining a diagnosis and the current advances in diagnostic measurements were discussed in detail.
Game Changers in Drug Development & Authorisation: Medicines & Adaptive Pathways
In this theme, the speakers, many of whom were from regulatory agencies, spoke extensively on how the development, authorisation and access process can be ameliorated in order to get the best possible outcome for the rare disease patients. In this theme the attendees were given a sense of what needs our attention most and how we can smooth the path from research through to real treatments with real access for real patients.
Game Changers in Care Provision
In this theme ambitions to refine a shared understanding of what the rare disease community really needs care networks to look like in reality was explored indepth. Drawing on expertise from across Europe, speakers shared case studies to show what the true potential is in connecting isolated experts and sharing knowledge and information. It was also elucidated how care will change in local hospitals from the creation of European Reference Networks and mapping the evolution of practices and treatments through a common currency that enables experts to share knowledge and practices, driving improvements for all.
Game Changers in Social Policy
In this theme the speakers delved both into the current policy scenario as well as into innovative care solutions which are being experimented throughout Europe.
Game Changers in Global Society
The presentations in this theme drove home the message that rare diseases are truly global, which can greatly accelerate advance knowledge, public awareness, and drug discovery and development in addition to connecting people. Social media experts shared their knowledge on how to use the internet efficiently. Leaders from various global enterprises involved in research, manufacturing, knowledge exchange, policy, and patient networking discussed on how greater synergy across all spheres can improve orphan drug development and approval. The sessions came out with the message that rare diseases is an international public health priority and a collaborative effort is required to bring this fact to the fore.
The rare disease community looks forward to the next ECRD conference, which will be held on 10 - 12 May, 2018 in Vienna, Austria.
Videos of the Opening and Closing Plenary are available here
Links to the presentations are available here.
Links to the posters are available here
France was the first country to adopt a comprehensive national plan for rare diseases (2004-2008) which was very positively evaluated. A second plan was elaborated to consolidate the successful initiatives and add a few new ones (2011-2014). The conclusions of a thorough evaluation of this second plan, conducted in 2015, were just published. 
This study in the Orphanet Journal of Rare Diseases analysed the "economic burden and disease-specific health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany." SMA is a so far non-curable neuromuscular disease of the anterior nerve cells that causes high rates of morbidity and mortality. 
A study published in the "Orphanet Journal or Rare Diseases" aims to assess the budget impact of orphan drugs in Latvia from 2010 to 2014. The authors found that total 5-year expenditure EUR 12.467 million ranging from 2.065 to 3.065. They also report that "the three indications: Ph+ Chronic myeloid leukemia, Mucopolysaccharidoses II, and Pulmonary arterial hypertension accounted for nearly 90 % of the total orphan drug expenditure", and Glivec possessed the highest share of total orphan drug expenditure The authors believe that the budget impact of orphan drugs in Latvia is small and report dissatisfaction towards the orphan drug reimbursement system in the country. 
A study published in the Orphanet Journal of Rare Diseases provides information the total annual expenditure of orphan drugs and estimates future expenditure in Canada. 
A press release by the American Society of Human Genetics (ASHG) opposing the newly revised regulation of the U.S. Equal Employment Opportunity Commission's (EEOC) under the Americans with Disabilities Act (ADA) and under the Genetic Information Nondiscrimination Act (GINA) has been published. 
In the Netherlands there is a legal provision for euthanasia of newborns in the first year of life in extreme circumstances. Whether there was an increase in the frequency of end-of-life decisions since ultrasound examination around 20 weeks of gestation became routine in 2007 is assessed in a nationwide cross-sectional study published in The BMJ. The authors report that a majority of the deaths in 2010, were preceded by an end-of-life decision, which were mainly decisions "to withdraw or withhold potentially life-sustaining treatment". Only in 1% of cases drugs were admisntered to hasten death, a number which was much lower than the previous years. Thus the authors believe the introduction of routine ultrasound examination as well as the legal criteria that warrants deliberately ending life within 1 year, have led to the considerable reduction of these deaths. 
