Year: 2017

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 Summit: rare diseases are rare but rare disease patients are numerous

On the 23rd of October, Robinson College of the University of Cambridge hosted the 3rd annual CRDN summit. The summit brought together patient groups, healthcare professionals, academics, researchers, biotech companies, and the pharmaceutical industry in a spirit of collaboration, innovation and passion to re-imagine and re-invent the Rare Disease patient journey. The meeting started with the keynote lecture by Dr Ségolène Aymé – the founder of Orphanet. Orphanet is one of the largest and oldest resources on rare diseases which has a goal to improve the diagnosis, care and treatment of patients with rare diseases.  Its motto is: rare diseases are rare, but rare disease patients are numerous. In her talk, Dr Aymé gave an overview of the rare disease landscape, spoke about new technologies and tools available to patients, carers, and researchers,  and shared several warnings. It is important to keep in mind that medical research focused on the patients’ diseases became driven by data, technologies and IT outputs, which means that the leadership switched from MDs and biologists to molecular and IT scientists. The main thing is, therefore, to remember  that tools, algorithms and concepts from digital science and technology, valid for complicated mechanical systems, cannot address complex […]

DNAdigest interviews Tim Guilliams from Healx

Tim Guilliams is the CEO of Healx – social enterprise with the focus on drug repurposing for rare diseases. Tim will be speaking at the BioData World Congress in Hinxton on 2-3 November 2017. Photo source: Tim Guilliams’ archive Could you please introduce yourself and tell us about your main activities and roles? (Both at Healx and CRDN) My name is Tim Guilliams, I am the founder and CEO of Healx. I am a scientist by background, I got a MSc degree in bioengineering and chemical engineering and moved to Cambridge for my PhD in biophysics. After getting my PhD, I decided to quit academia and started a social venture named Healx three and a half years ago. Our focus is on repurposing existing drugs for rare and genetic diseases by using artificial intelligence and genomics. I am also the founding director of Cambridge Rare Disease Network which is a charity aiming to bring together parties interested in rare diseases around Cambridge and to bridge gaps between patients, researchers, start ups, clinicians and bring them all around the table. CDRN grew out of Healx and GeneAdviser: we were interested in rare diseases and realised we didn’t have anyone to go to in […]

DNAdigest interviews Natalie Banner from Wellcome Trust

Dr Natalie Banner is a Policy Adviser at the Wellcome Trust; she will be speaking at the BioData World Congress in Hinxton 2-3 November 2017. Could you please introduce yourself and tell us about your main activities and roles? I’m Dr Natalie Banner, a Policy Adviser at the Wellcome Trust and part of the ‘Understanding Patient Data’ initiative. My work mostly involves developing policy to ensure that we can maximise the use and value from data collected through research involving people or through clinical care. We can only do this if the systems for collecting, managing and using data are secure, ethical, transparent and patients and the public can have confidence that their information will be protected and used for public benefit. I lead a stream of work on horizon scanning, looking at the way new data-driven technologies may use patient data for health care and research. What are you going to talk about at the BioData World congress in November? I will be on a panel speaking about the importance of listening to and engaging with patients when thinking about how to build a trustworthy system that protects data while allowing access for valuable research. You are working on […]

Data Sharing 101 – a brief introduction for everyone

Written by Spencer Gibson, PhD, Research Associate at the University of Leicester. The DataSharing 101 site aims to be a launching pad for anyone interested in sharing data for biomedical purposes. The site started life as part of my work in Prof. Brookes’ research group at Leicester University, when working on the Genomic’s Clinic of the Future (GCoF) project. This was an E.U. horizon 2020 funded initiative to bring together scientists from different disciplines to investigate the various issues around sharing genomic data. My contribution to this project focused mainly on investigating current systems for sharing this type of information, and their applicability for sharing data between the clinical and research environments. The website became an avenue to disseminate this information to anyone who also wanted to explore this area further. As such the site aims to give some basic background with links out to other resources that either explore specific areas in greater detail or provide specific services or tools for data sharing. As the GCoF project focused on data sharing in a biomedical/clinical context, it allowed me to focus on a small number of key groups. These were the patient, the clinician/healthcare professional, the data user and the […]

DNAdigest interviews Dipak Kalra from the European Institute for Innovation through Health Data

Dipak Kalra will be speaking at the BioData World Congress in Hinxton 2-3 November 2017. Could you please introduce yourself and tell us about your main roles and activities? My name is Dipak Kalra and I am the President of the European Institute for Innovation through Health Data (i~HD). I am also a Professor of Health Informatics at University College London, and  affiliated with University of Gent. After an early career in general practice, 25 years ago I moved into health informatics focusing on electronic health records. Over that time I have worked on the clinical, ethical and legal requirements for electronic health records and on the development of international interoperability standards. Over the past decade I have also been involved in research on the reuse of electronic health records for clinical research, working alongside large pharma companies. I am particularly interested in how we can encourage the better use of standards, promoting good data quality and data sharing, and enabling the trustworthy uses of health data to improve quality of care and to accelerate research. What are you going to talk about at the BioData World congress in November? The focus of my talk in November is information governance: how we can best protect […]

Cancer Moonshot and the future of Precision Medicine

This guest post is by Emily Walsh, community outreach director at the Mesothelioma Cancer Alliance. The Mesothelioma Cancer Alliance, while focused on raising awareness for mesothelioma and bringing about the ban of asbestos, is working to shed some light on what this might mean for oncology patients in the near and far off future. In 2016, former US Vice President Joe Biden was given the task of heading the Cancer Moonshot Initiative by former President Barack Obama; an initiative that means paving the way for finding a cure for cancer by the year 2020. By no means an easy feat, the goal of the Moonshot program is to make existing treatments available to more people, improve our ability to prevent cancer, and explore ways to more easily detect it at an earlier stage. Since then, the Blue Ribbon Panel  was created with industry leaders, doctors, and advocates convening to discuss and present recommendations to make a decade of progress in only five years. After their conference, the panel presented a linear plan outlining 10 recommendations that provide clear goals for researchers, advocates, doctors, and other industry professionals. Included in the panel’s recommendations is the goal to build a national cancer data ecosystem. […]

Is sharing always caring? On open genomic data sharing and why people do it.

Originally published at Repositive blog and is reproduced with permission. Special thanks to Tobias Haeusermann1, (postdoctoral researcher at University of Zürich), and Bastian Greshake2 (co-founder of OpenSNP.org) for collaborating to write this guest blog post. In times of political turmoil, we tend to see discussions about the responsibility of science in academic circles. But unfortunately, something is rotten in the state of academia too. While the academic pursuit should, first and foremost, entail the cultural accumulation of knowledge and its transmission across generations and borders, the structures and strictures of science often tend to hinder rather than foster the sharing of knowledge. In their recent book “A Passion for Society: How We Think about Human Suffering”, sociologist Iain Wilkinson and medical anthropologist Arthur Kleinman openly address academia’s centuries-old dirty little secret: the barriers the ‘ideal’ dispassionate researchers erect around themselves is frequently selfish and self-serving. Oftentimes, Wilkinson and Kleinman write “what now passes as social science is in thrall to technocratic procedures and structures of career that leave it critically sterile, cynical and devoid of passion” (p. xi). They conclude that now might be the time to renegotiate the terms once again. As medical researcher John Tregoning lamented in his […]

Reflections from my time with the Genomic Data Commons

This post is by Piers Nash – biochemist, data evangelist and futurist. Originally published on his personal blog and is reproduced with permission. I have spent the past 13 years at The University of Chicago – most of that time as a faculty of Cancer Research. From December 2013 through January 2017 I spent my days (and a fair number of nights) working with the University of Chicago’s Center for Data Intensive Science. During that time, I had the unique privilege to be integrally involved in what I view as a truly transformational national effort to develop a purpose-built private object storage cloud for the Nations’ cancer genomic data. This is the National Cancer Institute’s Genomic Data Commons, or GDC. The team at the University of Chicago architected and built the GDC starting in 2013, and we launched on June 6, 2016 with none other than Vice President Joe Biden. With forward-looking technology, scale and use cases, we were in a position to make the project a centerpiece of the Cancer Moonshot Initiative. At launch, the GDC became the largest repository of harmonized cancer genomic data on Earth. As I depart the University of Chicago and leave this amazing project standing […]

DNAdigest interviews Atul Butte from UCSF

One of the speakers at BioData World West – Atul Butte – is well known for advocating open science. We highly recommend watching his talk on TEDMED where he shares his vision of the science of the future, it is truly inspiring! Photo source: Atul Butte’s archive There is a lot of information about you on the Internet… Could you please briefly introduce yourself and mention what you think is the most important to know about you. Have you always wanted to work in IT & healthcare? My name is Atul Butte, I am the Director of the Institute for Computational Health Sciences at UCSF and Distinguished Professor in Pediatrics. My goal is to show the world how we can take data that we are already collecting and use them to develop new diagnostics, new drugs, and for improving our healthcare system. I have been in this area of computers & medicine for more than 25 years, since I was an undergraduate. What is your main motivator in work? My main motivator is the potential of the data that is already available. Lots of data have already been obtained and we now need more people who know what to do with that data. […]

From PhD to Product Management – Life in a startup

A post by Charlotte Whicher, Product Manager at Repositive Ltd. Originally published here and reposted with permission. In the last couple of weeks I have been invited to attend two events for academic researchers focusing on different non-academic career pathways and skills. I have been asked to talk about my career journey so far, and about combining science with business. This, alongside Nadia (our Scientific Liaison) asking “Do you think you follow a standard scientific career path or is your journey significantly different from others’?” in her recent interview of Aubrey de Grey for DNAdigest, has caused me to reflect a bit on my journey so far. What is this post about? Me. More explicitly, my career path to date, and the factors and decisions that lead me here. Why should you read it? If you are a researcher who is thinking of leaving academia, or if you are generally interested in the transition from academia to business, this might be interesting for you. What will you get from this post? You will learn the true story of my transition from working at a leading research institute to a job in a biotech startup. Hopefully, this will give you a […]

DNAdigest interviews Megan Doerr from Sage Bionetworks

Megan Doerr is a Principal Scientist at Sage Bionetworks. She will be speaking at the BioData West Congress in April 2017. 1. Please introduce yourself, your background and your current role.  My name is Megan Doerr. I am a licensed genetic counselor. My career path has been a bit non-linear. My original training is as a botanist. My first jobs were doing grassland restoration in East Africa and the American Mid-West. After being nearly struck by lightening one too many times, I became a classroom teacher. I taught science to middle and high schoolers in Boston, London, and Cleveland. I loved it – kids are naturally curious as well as being tons of fun – it was a joyful job. But I really missed doing my own science. I joined the genetic counseling community in 2006. From 2009 to 2015, I led the clinical development and implementation of Cleveland Clinic’s family history and risk assessment tool, MyFamily. While at the Clinic, I was able to get my science on with the support of the Center for Genetic Research Ethics and Law (CGREAL), a Center for Excellence in Ethical, Legal and Social Implications Research funded by NHGRI, at Case Western Reserve University. […]

DNAdigest interviews Aubrey de Grey from SENS Research Foundation

Photo credit: https://goo.gl/images/0ZE1pV Dr. Aubrey de Grey is a biomedical gerontologist based in Mountain View, California, USA, and is the Chief Science Officer of SENS Research Foundation, a California-based biomedical research charity that performs and funds laboratory research dedicated to combating the aging process. He is also Editor-in-Chief of Rejuvenation Research, the world’s highest-impact peer-reviewed journal focused on intervention in aging. He received his BA in computer science and PhD in biology from the University of Cambridge. His research interests encompass the characterisation of all the accumulating and eventually pathogenic molecular and cellular side-effects of metabolism (“damage”) that constitute mammalian aging and the design of interventions to repair and/or obviate that damage. Dr. de Grey is a Fellow of both the Gerontological Society of America and the American Aging Association, and sits on the editorial and scientific advisory boards of numerous journals and organisations. He is a highly sought-after speaker who gives 40-50 invited talks per year at scientific conferences, universities, companies in areas ranging from pharma to life insurance, and to the public. Dr. de Grey will be speaking at the BioData West Congress in San Francisco on 26-27 April 2017. 1. What are you working on currently and what […]

DNAdigest interviews Pistoia Alliance

Our first interview in 2017 is with John Wise of the Pistoia Alliance. 1) Please introduce yourself, what is your background and your current role? My name is John Wise. I graduated in physiology from the University of Oxford before obtaining a post-graduate certificate in education at the University of London. Nowadays I have a small consultancy practice working in biopharma life science R&D. I spend some of my time working as a business development consultant for the Pistoia Alliance (more about that later) and I also act as the Programme Coordinator for the PRISME Forum which is a not-for-profit, biopharma R&D IT leadership group focussed on the identification and palliation of “hot topics”, and the sharing of industry best practices. I have always worked in life science R&D and in very large part in informatics. I spent the early part of my career in the physiology and then the pharmacology departments in St George’s Hospital Medical School where we had DEC PDP 11s fitted with analogue to digital converters to interface to the experiments. I became very fluent in FORTRAN! Then I joined Sandoz (in the days before it became Novartis) at their Institute for Medical Research located in […]

10 Simple Rules for Sharing Human Genomic Data

The Repositive team together with Springer Nature has recently formulated “10 simple rules for sharing human genomic data”. “These 10 Simple Rules have been developed from our combined experiences of working with human genomic data, data repositories and data users. We do not claim that these rules will eliminate every possible risk of data misuse. Rather, we hope that these will help researchers to increase the reusability of their human genomic data, whilst also ensuring that the privacy of their subjects is maintained according to their consent frameworks. Many of the principles presented are also applicable to other types of clinical research data, where participant privacy is a concern.” The manuscript by Manuel Corpas, Charlotte Whicher, Nadezda V. Kovalevskaya, Tom Byers, Amanda A. McMurray, and Fiona G.G. Nielsen of Repositive Ltd, Future Business Centre, Cambridge, UK, and Varsha K. Khodiyar of Springer Nature, London, UK, was originally submitted to Biorxiv.org Introduction Delivery of the promise of precision medicine relies heavily on human genomic data sharing. Sharing genome data generated through publicly funded projects maximises return on investment from taxpayer funds and increases the likelihood of obtaining funding in future rounds [1]. More importantly, genome data sharing makes it possible for […]

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