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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.

Stem cell therapy shows promise for hirschsprung disease

A potential new treatment avenue has appeared for individuals suffering from Hirschsprung disease, a rare condition affecting the large intestine.

The shifting burden of neglected tropical diseases in the age of climate change

Now is the time to invest in trans-national control strategies to stop the spread of neglected tropical diseases and limit suffering, say Jake Mathewson and Ente Rood, Epidemiologists at KIT Royal Tropical Institute.

Rare Disease Day: The technology that could help rare genetic liver disorder patients

February 29th is dedicated to raising awareness about rare diseases and looking into the opportunities technology could bring for potential treatments.

Five rare diseases you never knew existed

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

Overcoming the ongoing challenges for rare disease patients in the UK

Gillian Molloy, Director of Market Access at AscellaHealth, examines the rare disease landscape in the UK, including progress in improving patient care and challenges in diagnostics and the development of new treatments.

Rare genetic mutation causes carrier to feel no pain

New research from UCL has uncovered the biology behind a rare genetic mutation that enables its carrier to live without pain.

Understanding Amyloidosis, a group of rare diseases

In this interview, Abbas Kanani, MRPharmS, Superintendent Pharmacist at Chemist Click, tells us about amyloidosis, a group of rare diseases in which abnormal proteins deposit as amyloid in tissues and organs.

Overcoming the cost challenge of rare, orphan & genetic therapies and CGT development

Craig Caceci, Managing Director, Terebellum®, walks us through how to overcome the cost challenge of CGT development for rare, orphan and genetic therapies.

Improving the quality of life for people with brittle bone disease: Osteogenesis Imperfecta

Pascale V Guillot, at the University College London, looks toward improving the quality of life for those with Osteogenesis imperfecta, a chronic health condition called brittle bone disease.

Examining the burden of rare diseases in the US

Open Access Government explore the research efforts of the U.S. National Institutes of Health to mitigate the often-underestimated burden of rare diseases on patients and their families.

COVID-19 impact on rare disease: Peroxisomal disorders

Dr Michael Wangler, Assistant Professor at Molecular and Human Genetics Baylor College of Medicine and Katie Sacra, Director of Family Programs, Global Foundation for Peroxisomal Disorders, mother of TJ, discusses the impact of the COVID-19 pandemic on families with rare disease - especially peroxisomal disorders.

Amyloidosis: A rare but devastating blood condition

Dr Peter Diamond, Head of Research from the Leukaemia Foundation, describes what we need to know about amyloidosis, a rare but devastating blood condition

New tool to boost lupus tracking to 96% accuracy

Research indicates the possibility for a new, easier and more accurate tool to measure the progress of lupus in patients

TUBB4A-associated leukodystrophy

Dr Dan Williams, SynaptixBio CEO, discusses the search to find the first treatment for one of the world’s rarest diseases, TUBB4A-associated leukodystrophy

What is Dandy-Walker Syndrome? – Everything you need to know

Dandy-Walker Syndrome. What is it? What are the symptoms? What are the causes? What is the prognosis? Is it treatable?

Driving the digital-first future of pathology through partnerships

Afshin Attari, Senior Director of Public Sector & Unified Platforms at Exponential-e, describes driving the digital-first future of pathology through partnerships.

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