Rare Disease Research Partners support research and access to treatment for people living with rare conditions
External link for Rare Disease Research Partners
Amersham, GB
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Support people and families living with a rare condition and make your Christmas donation count by giving during the Big Give #ChristmasChallenge https://buff.ly/3Vi4qVs Help us reach our new target of £30K and you'll be giving the gift of a community for people who feel isolated and alone because of the rarity of their condition.
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We are thrilled to announce that donations to the Big Give Christmas Challenge are officially open ❄️ From now until 12 midday on 10 December your donations made to us via the Big Give website will be matched pound-for-pound; this means your impact goes twice as far! >> https://buff.ly/3Vi4qVs These funds will enable us to organise amazing community events over 2025, so that families affected by rare conditions are able to enjoy fun activities together in a safe environment, accompanied by members of MPS Society staff to provide practical and emotional support. Thank you so much for your support! #ChristmasChallenge
It was an absolute pleasure for Bob Stevens, Group CEO of MPS Society UK, here for those with rare diseases and RDRP, and Bennie Marshall-Andrew, Head of the Clinical Trial Support Team, to catch up with some of the Sangamo Therapeutics, Inc. UK team last week.
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Following from last month’s #Spotlightonrare we are now drawing our attention to Mucolipidosis type III (ML III) which is one of the lysosomal storage diseases and is sometimes referred to as Pseudo-Hurler polydystrophy. ML III resembles a less severe form of MPS I Hurler and was first described by Dr Maroteaux and Dr Lamy in 1966. Babies may show little sign of the condition, but symptoms start to appear as more and more cells become damaged by the accumulation of unwanted molecules. You can find more information about the condition on our website https://buff.ly/4eFvaWI #Spotlightonrare
We’re delighted to announce that RDRP's abstract on the barriers and facilitators to clinical trial participation has been ACCEPTED for poster presentation at #WORLDSymposia 2025. Well done to all involved in this fantastic research and we can’t wait to see the full poster presentation at #WORLDSymposia #Research #FabryDisease #ClinicalTrials
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Our online resources are there for you to find helpful information and further insight into the conditions we can support you with https://buff.ly/3YTqOqy Today we are revisiting a research project published by MPS Society and Rare Disease Research Partners authors on the educational journey of individuals with MPS IVA Morquio.
All of us at RDRP are thrilled that the “Living Well with Fabry: Shared Decision-Making Toolkit” has been named a finalist in two categories at the Pharmaceutical Marketing Excellence Awards (PMEA) 2024. 🙌 Excellence in Rare Diseases or Orphan Drugs 🙌 Award for Patient-Centricity This toolkit was funded by Chiesi Limited and developed in partnership with our fantastic Research and Medical Communications Team. You can view this important toolkit and the supporting documentation on the MPS Society UK website here https://lnkd.in/eGf9FAqz Well done to everyone involved. We’re keeping our fingers crossed for you!
We are delighted to share that the “Living Well with Fabry: Shared Decision-Making Toolkit” has been named a finalist in two categories at Pharmaceutical Marketing Excellence Awards (PMEA) 2024! 🎉 🏆 Excellence in Rare Diseases or Orphan Drugs 🏆 Award for Patient-Centricity This toolkit, funded by Chiesi Limited and developed in collaboration with Rare Disease Research Partners, reflects our commitment to improving shared decision-making for Fabry patients. A huge thank you to the clinicians and patients who took part in this important project – your support has been invaluable! • Read the full toolkit here: https://lnkd.in/eQJJ_Cxm (digital version) • Read the supporting documentation here: https://lnkd.in/e9y-HPwS UK-CHI-2400869 | October 2024 #SharedDecisionMaking
Last week, during their tour of the US, Bob Stevens, Group CEO of MPS Society UK, here for those with rare diseases and RDRP, and Bennie Marshall-Andrew, Head of the Clinical Trial Support Team had a great meeting with Denali Therapeutics to discuss a current project and develop new ideas about keeping patients at the heart of everything we do #partnershipforpatients
Bob Stevens, MPS Society UK, here for those with rare diseases and RDRP Group CEO, and Bennie Marshall-Andrew, Head of the Clinical Trial Support Team, are currently on a trip in the US where they had a great discussion with Sangamo Therapeutics, Inc. about current and future projects as well as a general chat about the current situation in the rare disease space. Bob then went on to have a fireside chat with Debbie Ovadia, in front of a Sangamo audience, to talk about the MPS Society UK and RDRP (partnership for patients) as well his experiences as a rare disease dad and the caregiver experience.
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A gene therapy clinical trial for people affected by MPS II Hunter in Manchester has updated its age eligibility criteria for children who may be considered to take part from originally 3-12 months to now 3-22 months. You can find more details about the trial here https://buff.ly/3Agyj12 or contact Professor Robert Wynn via email robert.wynn@mft.nhs.uk