Rare disease Archives - Page 4 of 12

Why I am fortunate to still be learning lessons in RARE

In late September 2021, Gavin Jones (Global Advisor, Rare Disease) had the honor of chairing a symposium for Tin Soldiers at the Paediatric Rheumatology European Society (PReS) congress. He writes briefly on...

Informing patient and caregiver decisions towards gene therapy

Watch the webinar Gene therapy offers hope for many people living with a rare disease. These treatments have the potential to transform lives in disease areas where there may be no treatment options, where...

A new era for gene therapy and rare diseases: Findings from the World Orphan Drug Congress USA 2021

The World Orphan Drug Congress took place just outside Washington, DC, on August 25-27, 2021.  Leaders in the biotechnology and pharmaceutical industry, regulators, patient advocacy groups, and others convened in person and...

The use of Medtech Innovation Briefings (MIBs) to encourage implementation of innovative technologies: A review of published briefings from 2014–2018

Authors: F Glen, A Pulfer Published: Value in health, 2018 View publication Objectives In an era where services are close to breaking point, there is pressure on healthcare providers to embrace cost-effective...

A benchmarking audit of the pre-diagnosis pathway in patients with Duchenne Muscular Dystrophy

Authors: V Gowda, M Fernandez, M Prasad, AM Childs, I Hughes, S Tirupathi, C De Goede, D O’Rourke, D Parasuraman, T Willis, S Saberian, I Davidson Published: European Journal of Neurology, 2021...

PRO115 A patient-centric approach to designing a mixed-methods observational study involving adolescents with X-Linked Hypophosphatemia

Authors: A J Rylands, A Williams, E H Davies, S A Vincent, K M A Bailey Published: Value in Health, 2020 View publication Objectives A European, prospective, multi-centre, mixed-methods observational study is...

How should the rare community react to this week’s news from bluebird bio?

Bluebird bio have announced that they are sadly exiting Europe as it believes that it is untenable to continue. I feel for the thalassemia, sickle cell, and leukodystrophy communities. As an advocate,...

Accelerating and sustaining the life of an advanced therapy through rare insight

This article was first published in Rare Revolution Magazine, Issue no. 013, Autumn, 2019. You can find the full magazine HERE The healthcare landscape has seen many revolutions over the past...

Generating data on long-term outcomes to demonstrate the value of gene and other advanced therapies

*This article was first published in Rare Revolution Magazine, Issue no. 013, Autumn, 2019. Gene therapy and advanced cell-based therapies offer patients hope and the potential to make them chronically well. Long-term monitoring of patients...

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