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Mark Daly, Director of the Institute for Molecular Medicine Finland (FIMM), HiLIFE at the University of Helsinki, shares his expertise on medical genetic research on a population scale in Finland.
PTC Therapeutics have announced the use of a blood test for the rare genetic condition, aromatic L-amino acid decarboxylase (AADC) deficiency.
The Trump administration’s sanctions on Iran have limited the ability of the country to finance imports, including access to medicine, causing serious hardships for ordinary Iranians.
Maria Piggin, Chair of PNH Support tells us about the rare disease, paroxysmal nocturnal haemoglobinuria (PNH) and in this area, collaborations for change.
Lupus is on the rise, yet awareness of the disease remains relatively low. However, efforts are underway to tackle existing gaps in managing the condition, as we discover here.
The European Red Cell Society’s met the partners of the EU intellectual training network RELEVANCE at Mount of Truth in Ascona, Switzerland to discuss the latest progress.
Jane Kinghorn, Director of the Translational Research Office at UCL, discusses the importance of research and partnership in improving the health and wealth of the UK.
Laura Hagerty, PhD, Scientific Portfolio Director at the Muscular Dystrophy Association, highlights strategies for gene correction to treat Duchenne muscular dystrophy.
Learn about these five rare diseases to support governments, scientists and healthcare professionals to find treatments.
The government will today announce a new National Genomic Healthcare Strategy and measures to improve services for people with rare diseases.
Research carried out for the first time by Rare Disease UK indicates almost all patients and carers living with a rare disease have felt anxious, stressed and low
Simone Boselli, Public Affairs Director of EURORDIS shares the fascinating findings of a new position paper that offers a synthesis of their analysis, reflections and perspectives on access to rare disease therapies in Europe today
SMA Europe e.V. discusses how new treatments for spinal muscular atrophy open up new challenges for European and national institutions
Sorcha McPhillips, Chief Executive of the Huntington’s disease (HD) Association for Northern Ireland, raises awareness of HD and discusses the impact of hope on the community in the face of new treatments
Dr Paul De Raeve, Secretary-General of the European Federation of Nurses Associations (EFN) provides an in-depth perspective on the extent to which nurses in Europe are codesigning an EU value-based health and social care ecosystem.
In light of Rare Disease Day, EURORDIS – Rare Diseases Europe and its member organisations, have launched a new position paper today (28th February), to grant patients full access to rare disease therapies across Europe.
One out of every 10,000 people who are exposed to common viruses like herpes simplex or influenza will develop a potentially deadly brain infection, encephalitis
Anthony S. Wexler and Pamela J. Lein from the University of California share their expert views on the impacts of air pollution on the brain Air pollution is a complex mixture of gases and particles in the atmosphere. Air pollutants are defined as compounds known to be deleterious to human...
Rosienne Farrugia from the University of Malta explores the role of high throughput sequencing (HTS) in rare and complex diseases, including the move towards the clinical applications of genomics High throughput sequencing (HTS) is poised to play an ever increasingly central role in the elucidation of the causes of both...
Professor Ruth Ladenstein from SIOPE (the European Society for Paediatric Oncology) discusses how ERN PaedCan facilitates effective cross-border healthcare The European Commission launched 24 different networks to bring together experts from across the EU to tackle rare diseases by improving diagnosis, treatment and access to specialist care. These are known...
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