Rare Diseases

The EU’s next steps for an action plan on rare diseases

The European Economic and Social Committee (EESC) urges the EU to adopt a new approach to tackling rare diseases.

Osteogenesis imperfecta – what we need to know

Frost & Sullivan’s TechCasting Group, places the spotlight on osteogenesis imperfecta – toward future targeted, more effective therapy.

What is Osteogenesis Imperfecta (OI)?

Patricia Osborne, Chief Executive of the Brittle Bone Society, tells us what we need to know about Osteogenesis Imperfecta.

Harnessing digital innovations to become a beacon of hope for Rett patients

The CIPP Rett Centre provides treatment for emotional, behavioural and autonomic difficulties/disorders in patients with Rett Syndrome.

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.

Could vitamin D reduce hypertensive disorders in human pregnancy?

Dr. Yuping Wang and Dr. David F. Lewis from LSUHSC-Shreveport discuss how to reduce hypertensive disorders in human pregnancy.

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.

Researchers use blood test for rare genetic condition

PTC Therapeutics have announced the use of a blood test for the rare genetic condition, aromatic L-amino acid decarboxylase (AADC) deficiency.

Iran: Sanctions impair access to medicine

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.

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.

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.

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: 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.

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.

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

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

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

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Latest Academic Articles

The latest academic articles from key research stakeholders