Below, the Rare Disease Matters blog ( is shown:

Determining Quality of Life is personal

Everybody talks about it, if you ask I am sure everybody has an opinion about it. But when a disease like cancer or some rare genetic disorder really hits you or one of your loved ones, it really becomes a … Continue reading

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Head transplantation

Closing a gap for rare diseases or simply a bridge too far Last weekend I opened my Saturday newspaper and was captivated by a rather intriguing story about human head transplantation. The question I was left with after reading the … Continue reading

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One day??????..

We will have the tools and techniques at our disposal to diagnose all the rare disorders if we wish to do so. These diagnoses will be attained in a matter of weeks instead of years, and close to the onset … Continue reading

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Regulators move patient engagement to the next level: benefit-risk assessment

Regulatory agencies continue to recognize that the drug review and approval process benefits from the input received from patients or their carers. On 26 September the European Medicines Agency (EMA) announced the launch of a pilot project to involve patients … Continue reading

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Rare disease advocates moving into biotech

Yesterday evening Bernard Muller & Robbert Jan Stuit, both diagnosed with ALS, appeared on Dutch television. As established entrepreneurs they founded their own biotechnology company Treeway to speed up ALS research and the development of new therapies. Their website mentions … Continue reading

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Importance rare disease patient advocacy recognized in scientific literature

The concept of patient advocacy organizations and its added-value in the rare disease area is certainly not new. However, a new trend may well be that advocacy initiatives are increasingly becoming the topic of a scientific publication. Many publications are … Continue reading

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New in OJRD: Drug development for exceptionally rare diseases: tough but possible

Level of scientific knowledge on exceptionally rare metabolic inherited diseases and their potential orphan medicinal products. To what extent is this linked to sponsors deciding to apply for an orphan designation ? A recent publication in the Orphanet Journal of … Continue reading

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New book chapter on Translating rare disease research into potential therapies

Proust once said “The real voyage of discovery consists not in seeking new landscapes, but in having new eyes”.  In a new book chapter “Why R&D into rare diseases matter“, I explain that translation of rare disease research into orphan drug development … Continue reading

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Rare disease-focused foundations: start small, think big

Rare disease-focused foundations have been founded by patients or their relatives with the aim to generate sufficient disease understanding that can form the basis for a potential treatment. Well-known examples are the Cystic Fibrosis Foundation and the Muscular Dystrophy Association … Continue reading

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RANKL cytokine: potential cure for rare bone disease

putting science into practice (1) The RANKL cytokine acts as the primary signal for bone removal, and as such plays a crucial role in bone homeostasis. In 2010, Amgen?s denosumab, a monoclonal antibody against RANKL was approved in the US … Continue reading

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