Home Tags Rare Diseases

Rare Diseases Related Content

finland a framework, medical genetic research

Finland: A framework for genetic research

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.
nocturnal haemoglobinuria

A focus on rare disease: Paroxysmal nocturnal haemoglobinuria (PNH)

Maria Piggin, Chair of PNH Support tells us about the rare disease, paroxysmal nocturnal haemoglobinuria (PNH) and in this area, collaborations for change.
systemic lupus erythematosus

Addressing gaps in systemic lupus erythematosus management

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.
red blood cells, european red cell society

Developments in red blood cells at the Mount of Truth

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.
health and wealth

Delivering improved health and wealth in the UK

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.
Duchenne muscular dystrophy

Duchenne muscular dystrophy: A test case for gene-targeted therapy development in rare disease

Laura Hagerty, PhD, Scientific Portfolio Director at the Muscular Dystrophy Association, highlights strategies for gene correction to treat Duchenne muscular dystrophy.
Five rare diseases, Alice in Wonderland Syndrome

Five rare diseases you never knew existed

Learn about these five rare diseases to support governments, scientists and healthcare professionals to find treatments.
National Genomic Healthcare Strategy

National Genomic Healthcare Strategy: Improving services for rare disease sufferers

The government will today announce a new National Genomic Healthcare Strategy and measures to improve services for people with rare diseases.
rare disease

Mental Health Awareness Week: Spotlight on rare disease

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
rare disease therapies

Access to rare disease therapies in Europe

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
spinal muscular atrophy

New treatments for spinal muscular atrophy

SMA Europe e.V. discusses how new treatments for spinal muscular atrophy open up new challenges for European and national institutions
Huntington's Disease

Huntington’s disease – accessing hope

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
health and social care ecosystem

Nurses in Europe codesigning an EU value-based health and social care ecosystem

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.
rare disease therapies

EURORDIS Group call for more access to rare disease therapies in Europe

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.
brain infection

Mutation explains why some people are more vulnerable to viral brain infection

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
air pollution on the brain

An emerging environmental health concern: Impacts of air pollution on the brain

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...
genomes

Moving towards clinical applications of genomics (The TrainMALTA project)

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...
cross-border healthcare

The provision of effective cross-border healthcare

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...
rare diseases

Modern research into rare diseases

Research infrastructure project manager at EURORDIS, Virginie Bros-Facer highlights the extent of rare diseases in Europe in this insightful article
reduce cholera deaths

Health officials pledge to reduce cholera deaths by 90%

Health Officials from across the globe are set to meet in France and pledge to dramatically reduce cholera deaths by 2030

Follow Open Access Government