rare disease

DNAdigest interviews Laurence Woollard from On The Pulse Consultancy

Could you please introduce yourself and your current role? My name is Laurence Woollard, I am the founder and director of On The Pulse Consultancy. We are a relatively new start-up that provides independent expert patient insight into living with the rare bleeding disorder, haemophilia, to the UK healthcare sector with the aim to improve the patient and caregiver experience. On The Pulse stems from my own personal haemophilia ‘journey’, as you might say, where for a long time I was not as engaged with my condition or healthcare as one could have been. This is not to say I wasn’t adherent or strict with myself in terms of treatment and lifestyle choices but more that, did I truly understand what I needed and how to feel empowered enough to go get it? Becoming a volunteer initially with the patient organisation sparked a chain reaction of events that would change my outlook on living with haemophilia and being more informed and self-aware. It was through supporting and working for different organisations and initiatives in the haemophilia and wider rare disease space where I identified that I could use my voice to help shape and influence treatment and care for people […]

Cambridge Rare Disease Network

Cambridge Rare Disease Network Launches Soon

As a strong supporter of the science research into all genetic and rare diseases, and in the search for finding new ways to to support and promote best practices, our team is very pleased to announce the newly created partnership between DNAdigest and the Cambridge Rare Disease Network. The Cambridge Rare Disease Network is a not-for-profit organisation based in Cambridge, UK. Their mission is to bring together the active stakeholders in rare disease research and development, to foster dialogue and to increase awareness. And they are officially launching on the 2nd of April 2015! Join them for this Launch Event which will take place on April 2nd at 5.00pm at the Cambridge Judge Business School. Keynote speakers will share their journey in building entire organisations in order to find a cure for their children affected by a rare disease. Keynote speakers include: Dr Nick Sireau, Founder of the AKU Society and charity Findacure; Ms Kay Parkinson, Founder of patient group Alstrom Syndrome Society; Dr Will Evans, Trustee of the Niemann-Pick Disease Group; Dr Cesare Spadoni, Founder of aPODD Foundation. Do register for this event, using the CRDN eventbrite page and visit their website to search for more information about this exciting organisation.

DNAdigest interviews Genomic Medicine Alliance – Part 2

As promised last week, we are publishing the Part 2 interview with Professor George P. Patrinos about the Genomic Medicine Alliance. Look what more he shared with us. Enjoy the read and stay tuned for our next interviews that are coming soon. Professor George P. Patrinos (University of Patras Department of Pharmacy, Patras, Greece) Member of the Scientific Advisory Committee and Co-Chair of the Genome Informatics Working Group at GMA 4. What is your role in the organisation and how does your personal background support it? I currently serve the GMA as Member of the Scientific Advisory Committee and recently appointed as Co-Chair of the Genome Informatics Working Group, supervising related projects. This role is supported by our academic activities within my research group at the University of Patras, Department of Pharmacy in Patras, Greece and with close collaboration with other colleagues from the University of Patras and other academic institutions in Greece and abroad. 5. The Genomic Medicine Alliance activities are divided into distinct Working Groups. Could you list them for us and briefly describe what they are about and their main aims? GMA research activities span 7 different Working Groups: Genome Informatics, Pharmacogenomics, Cancer Genomics, Rare Diseases and Drug Outcomes, […]

DNAdigest interviews Free the Data – Part 1

DNAdigest is happy to welcome all of you, our blog readers, into the 2015 new year! We are fresh, with recharged batteries and ready to publish new interesting posts for you. In the first week of this, hopefully, very prolific year, we would like to introduce you to Sharon Terry (@sharonfterry). She kindly agreed on an interview for our series and will be telling us everything about Free the Data project (@FreeBRCA). This is only the first part of Sharon’s interview… Yes! There is more! Read the second part of the interview with FreeTheData here. Enjoy the read and in order to be the first one to know when we publish more interviews, sign up for our newsletter. 🙂 Sharon F. Terry is President and CEO of Genetic Alliance 1. Free The Data is a creation of Genetic Alliance, and still it has its own mission and goals. Could you please tell us more about this project of yours? Free the Data has two goals: first, to increase awareness about the benefits of open access to genetic data, both within the genetics community and at large, and second, to build the commons for the BRCA1/2 genes by empowering individual men and women […]

data and bio-specimens

Sharing Bio-specimens and Data

Nowadays, the increasing value of data and bio-specimen collections does not correspond with an equal increase in data/sample-sharing and data/sample access. As we all know sharing data and bio-specimens is essential for the discovery, the knowledge creation and translation of various biomedical research findings into improved diagnostics, biomarkers, treatment development, patient care, health service planning and general population health. There is a constantly increasing international agreement on the urgency to provide access to research datasets, to advance their use and fully apply their long term value. All of this has been clearly noted in many documents such as the OECD Principles and Guidelines for Access to Research Data from Public Funding, the Toronto Statement, and more recently the Global Alliance for Genomics and Health’s White Paper. Even though sharing of data and samples is confirmed to be favourable for most health-related research, it is of highest importance for rare-disease research because of the high deficiency of research participants, samples, data, resources and researchers for any given RD. Thinking in the most perfect way, data and bio-specimens should be made broadly available, but often failed because of institutions and individuals fearing, they will not receive recognition for their investment in building […]

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