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 […]

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 […]

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 […]

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. […]

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: 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 […]

DNAdigest interviews Personal Genome Project: UK

Today we begin the series of interviews about Personal Genome Projects and this interview is with Professor Stephan Beck who is leading Personal Genome Project: UK. Please introduce yourself. What is PGP in general and how is PGP-UK different? I am a Professor of Medical Genomics at the UCL Cancer Institute and the Director of Personal Genome Project: UK (PGP-UK). My academic group is involved in projects investigating genomics and epigenomics of phenotypic plasticity in health and disease. We are a systems epigenomics group that is interested broadly in all aspects of it. PGP-UK is a member of the Global PGP Network which currently includes four PGPs. The first one was founded by George Church in 2005 at Harvard University, then in 2012 Stephen Scherer started PGP-Canada in Toronto. In 2013, we launched PGP-UK at UCL. In 2014, PGP-Austria was launched by Christoph Bock in Vienna. These are the four projects that are currently active. There is a number of projects that are being planned and some of them are very close to actually launching as well but that will be announced when they are ready. What was the motivation to start the very first one? What was the aim […]

DNAdigest interviews the Head of ELIXIR’s Human Genomics and Translational Data

Serena Scollen is the Head of Human Genomics and Translational Data at ELIXIR. She is of the many great speakers at the BioData World Congress in Hinxton, UK that will take place next week (26-27 October 2016). In her presentation during the 2nd day of the Congress, she will talk about maximising opportunities to use human genomics data and about how ELIXIR enables this through European collaborations. Please introduce yourself, your background and your specific role in ELIXIR. Our audience is familiar with ELIXIR already – we interviewed Niklas Blomberg a year ago. I joined the ELIXIR Hub recently as Head of Human Genomics and Translational Data (ELIXIR is the European infrastructure for bioinformatics and life-science data). Prior to joining ELIXIR, I was a Director within the Human Genetics and Computational Biomedicine group at Pfizer. In this role, I led and implemented a genetic and precision medicine strategy to support drug target selection and clinical programmes for the Pain and Sensory Disorders Research Unit. Earlier in my career, I worked within the Toxicogenomics group at GlaxoSmithKline. I gained postdoctoral experience at the University of Cambridge and Imperial College London and a PhD from the University of Cambridge, with a focus […]

DNAdigest interviews The Farr Institute

Interview with Andrew Morris, Professor of Medicine, Director of the Usher Institute of Population Health Sciences and Informatics, Vice Principal of Data Science at the University of Edinburgh and the Director of the Farr Institute in Scotland. Prof Morris will be speaking at the BioData World Congress in Hinxton, UK, 26-27 October 2016. What is The Farr Institute? The Farr Institute is a UK-wide research collaboration involving over 20 universities and health partners in England, Scotland and Wales. The Institute is publically funded by a consortium of ten organisations led by the Medical Research Council. The Institute doesn’t own or control data but analyses data to better understand the health of patients and populations. What kind of research do you support? We are committed to high-quality, cutting-edge research using ‘big data’ to advance the health and care of patients and the public. The Institute works to advance informatics, statistics and data science and to develop governance and infrastructure frameworks that underpin the safe and trusted use of patient data. This provides the necessary tools to investigate, understand and improve the health and care of nation-wide populations. Do you hold any genomic data? The Institute doesn’t hold or own data but […]

DNAdigest interviews DataSHIELD

This interview focuses on the open source DataSHIELD software that enables you to take the analysis to the data, not the data to the analysis. Just like the software itself, this interview is a result of a group effort. D2K group: (from left to right) Dr Andrew Turner, Prof Paul Burton, Dr Demetris Avraam, Dr Stephanie Roberts, Prof Madeleine Murtagh, Dr Olly Butters, Dr Neil Parley, Dr Becca Wilson. The two dogs are the group mascots Java (left) and Data (right). Please introduce yourself. What is your background and your role in the project? The DataSHIELD project is co-ordinated by the Data to Knowledge (D2K) Research Group from the School of Social and Community Medicine, University of Bristol.  The following people are involved in the day-to-day running of the project: Paul Burton – Professor of Infrastructural Epidemiology, Principal Investigator of the overall DataSHIELD project and an active developer of the software and statistical methods. Becca Wilson – originally a planetary scientist – now the DataSHIELD Lead. I coordinate the project and contribute to the expansion of the project beyond biomedical applications. Demetris Avraam – mathematical modeller. I have a leading role in the development, implementation and testing of new statistical […]

DNAdigest interviews Genomics England about the 100,000 Genomes Project

Interview with Dr Clare Turnbull – Clinical Lead for 100,000 Genomes Cancer Programme, Genomics England. Clare is one of the many great speakers at the BioData World Congress in Hinxton, UK (26-27 October 2016); her presentation will be “Next-Generation genomics for germline cancer susceptibility”. Please introduce yourself, tell us about your background and your current role. My role in the 100,000 Genomes Project is clinical lead for cancer data.  In the cancer programme, we are sequencing tumor-normal pairs acquired from a variety of tumour types and clinical settings. In addition, across the programme, we are reporting on relevant variants in germline cancer susceptibility genes.  I work with the bioinformatics teams on the analysis and clinical interpretation of these data and return of findings back to laboratories and clinicians in the NHS. I am a clinical geneticist by training and manage patients with inherited susceptibility to cancer at Guy’s and St Thomas’ hospital. My research background is in cancer genomics and genetic susceptibility to cancer and I have a small research team at the Institute of Cancer Research in London. Please tell us more about Genomics England and the 100,000 Genomes Project. The 100,000 Genomes Project is a government-funded programme sequencing 100,000 […]

DNAdigest interviews the MSSNG project

Interview with Mathew Pletcher from the MSSNG project. Mathew is one of the many great speakers at the BioData World Congress in Boston on September 14-15th presenting: “MSSNG – Changing the face of autism through big data and open science.” Could you please introduce yourself and the MSSNG project? My name is Mathew Pletcher, I am Vice President and Head of Genomic discovery for Autism Speaks and I am also currently serving as the interim Chief Science Officer of the organisation. The MSSNG project (pronounced as “missing”) is a collaboration between Autism Speaks and the Hospital for Sick Children in Toronto. The aim is to sequence whole genomes of 10,000 individuals from families with autism and to make this data broadly available to the research community. We want to enable better understanding of the genetic causes of autism, to progress to a better understanding of different subtypes of autism and, ultimately, to a precision medicine-based approach to the care of autism. In addition to providing data for research, we believe that genomic sequencing has value today and that families who participate in MSSNG have the right to reap that benefit. Now, not some time in the indefinite future. We are […]

The right to know: how genetic counselling works

We are happy to share this interview conducted by Front Line Genomics. Originally published here. Genetic counsellors are the public face of precision medicine. Striking a balance between genomics and people, by providing information and support to patients who may be in very vulnerable positions. Genetic counsellor, social scientist and member of the Association of Genetic Nurses and Counsellors*** Anna Middleton explains how the advent of genomics is changing the way that counsellors work. Who are genetic counsellors in the UK? Genetic counsellors are either health professionals who have done an MSc in Genetic Counselling or specialist nurses who have done master’s level training in counselling and genetics. We are not usually medics, but work closely with our medical colleagues, who are called Clinical Geneticists. Are genetic counsellors engaging with genomics in the UK? Yes, very much so. Every Regional Clinical Genetics service in the UK, which is where the majority of genetic counsellors work, is engaging with genomics on some level. Whilst many centres might not be offering in-house whole genome sequencing yet, some are and many are attached to the 11 new Genomic Medicine Centres that are recruiting into the 100,000 Genomes Project. Genetic counsellors are not routinely […]

DNAdigest interviews Phil Bourne from BD2K

Fiona Nielsen from DNAdigest interviewed Phil Bourne – Associate Director for Data Science at the National Institutes of Health about the Big Data to Knowledge (BD2K) project. Photo credit: Wikipedia What is Big Data to Knowledge (BD2K)? BD2K is an NIH program across 27 institutes of about 110 million dollars a year. The program focus is on the challenges emerging in data across biosciences, and leveraging the power of biomedical data to benefit the NIH. The impact of the BD2K is across all biomedical data science research, supporting the exciting science that would not happen with traditional means. Take for example the Center for Predictive Phenotyping which is mining electronic health records (EHRs) at scale. They use computing ability combined with the vast information captured in EHRs, such as CD-9 codes associated with medical conditions, to get to a point of undertaking medical intervention for the patients. Another example project is the Stanford project regarding mobility data. They use mobility info, body mass index, GPS coordinates, and more for gait rehabilitation and weight management research. What does BD2K provide for these projects? BD2K is providing the funding as well as the environment that supports big data research. This includes: – addressing […]

A new multi-centralised cryptocurrency: Coinami

Last year we interviewed Can Alkan, an Assistant Professor in the Department of Computer Engineering at the Bilkent University, about Biopeer – a data sharing tool for small- to medium-scale collaborative sequencing efforts. Today we are talking to Can about his new project – Coinami. Please tell us more about Coinami. How did it start? Coinami is basically a volunteer grid computing platform that generates a new multi-centralised cryptocurrency, which uses high throughput sequence (HTS) read mapping as proof-of-work. After Bitcoin gained popularity, many different currencies that are called “altcoins” emerged around the same structure: decentralised, secure transactions in a public ledger called blockchain. All cryptocurrencies basically are composed of two parts: mining, which is generating new coins (i.e. “printing banknotes”), and transactions, which is spending and receiving coins. To provide integrity and prevent “overprinting”, a computationally intensive task has to be performed, which is called proof-of-work. Different cryptocurrency systems use different proof-of-work schemes, but, including Bitcoin, all current proof-of-work tasks serve no practical purpose other than maintaining the currency. Here, we suggest a different approach for proof-of-work. We propose that instead of impractical calculations, the miners should use their computational power for scientific computing. The idea is very similar […]

YAAC’s interview with Fiona Nielsen

The Young Alliance Against Cancer recently interviewed Fiona Nielsen –  CEO and founder of DNAdigest and Repositive. The interview was originally published at the website of the Young Alliance Against Cancer (YAAC) and is reposted with permission. A bioinformatician’s spark which lead to a new platform for sharing genomic data Short Bio Fiona Nielsen was trained as a bioinformatician at the University of Southern Denmark and Radboud University in the Netherlands. After working as a developer for Illumina she founded and currently presides the charity DNAdigest as well as the social enterprise Repositive limited. Her goals are promoting best practices for efficient and ethical data sharing as well as developing and providing novel software tools and mechanisms for sharing of genomic data. YAAC: Dear Fiona, you were recently chosen as one of 15 entrepreneurs to travel to Silicon Valley and participate in the prestigious BlackBox Connect Program. On top of that Repositive has not so long ago successfully raised another round of funding. Congratulations! Our readers are excited to hear about your short- and long term plans. But before we get to that, I would like to ask you a few questions related to the early days at DNAdigest and […]

Veterans Affairs Precision Oncology Project

Interview with Louis Fiore, doctor, scientist, manager, innovator at the Department of Veterans Affairs (VA) in Boston Massachusetts, Executive Director of the Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC). Louis will be speaking about the Precision Oncology Project at BioData World Congress USA 2016. 1. Could you please tell us about your background and your role at VA? I’ve been working for VA for almost 36 years. The department of VA takes care of approximately 20 million people, who served in the Armed Forces and are now retired. VA has a network of more than 150 hospitals across the country, they provide all types of healthcare services to veterans. VA has three missions: 1) care for veterans; 2) educate the next generation of healthcare providers; 3) provide research opportunities to improve healthcare of veterans first, and of the greater community as well. The group that I run, MAVERIC, has over 140 employees and works across four divisions: epidemiology and data mining, clinical trials, biobanking, and informatics. We have three national profile projects: Million Veteran Program (MVP), Point of Care Clinical Trial (POCCT) program, and Precision Oncology Program (POP). 2) At BioData World Congress USA 2016 you will be presenting […]

A better cancer treatment for children: we can create it together!

Children with cancer often don’t have access to innovative drugs in the way adult patients do. Why? Today we talk to Cesare Spadoni, founder of the aPODD foundation (Accelerating Paediatric Oncology Drug Development), about the current situation with childhood cancer and how it can be changed. 1. What is your background and how did you get involved with the project? I am a scientist and a drug development professional that has been working in business development roles for the past 12 years. But I am also a parent that one day heard the most terrifying words any parent may hear. My daughter was diagnosed with cancer at the age of three. After a year-long struggle with the disease she passed away in my arms. This was the time I resolved to do something for children with cancer. 2. What is the aim of your project and how did it start? The major problem facing children with aggressive forms of cancer is the lack of access to innovative treatment options. Children with cancer are generally treated with radiotherapy and old cytotoxic drugs that were approved 40-50 years ago in some cases. Sick children do not have access to the most innovative […]

Life with an undiagnosed condition: what does it really mean?

The 29th of April is the 4th nationwide annual Undiagnosed Children’s Day. It is organised by SWAN UK (Syndromes Without A Name) – an initiative of the charity Genetic Alliance UK offering support and information to families of children with undiagnosed conditions. Today, we are talking to Claire Walton about what living with an undiagnosed condition means in practice. Claire and Rowan (photo from Claire’s archive). 1)  Could you please introduce yourself and tell us bit about the background? Hi, I am Claire, single mum of 4 children, and we live in Northamptonshire. My daughter is 13, and I have 3 sons aged 10, 8 and 7. All three of my sons have undiagnosed genetic conditions. It is thought that they all have the same ‘thing’ but as yet we do not know what ‘it’ is. They have an array of challenges and issues, including hypoglycaemia, hypothyroidism, possible hypothalamic disorder, growth hormone deficiency, calorie handling issues, GORD, colonic dysmotility, hypermobility with chronic pain, fatigue, hearing issues, developmental delay, speech delay, educational challenges and previous severe failure to thrive, coeliac disease, and other food intolerances. Rowan has an inability to feed ‘normally’, and is therefore reliant on Parenteral Nutrition (Intravenously fed), […]

DNAdigest interviews MIABIS Connect

Today we interview the team of MIABIS Connect – a federation software platform designed to connect biobanks. MIABIS stands for Minimum Information About BIobank data Sharing. 1.  What exactly is MIABIS Connect?  MIABIS Connect is a federation software platform initially developed to promote biobank interoperability. MIABIS Connect can be used to create federations of biobanks to make samples openly available to the biomedical research community. The central semantic for the federation is the Minimum Information About BIobank data Sharing (MIABIS), the de facto standard in BBMRI-ERIC for sharing bio-resources. There are some relevant features that make MIABIS Connect quite interesting. For instance, it is a “light” software solution that uses open-source software (ElasticSearch) and in-house developed small java modules, it requires a minimum involvement from the biobank staff or IT support and an important distinctive attribute; the biobank data stays in the biobank! From the technical point of view, MIABIS Connect has two main modules:  MIABIS Server and MIABIS Client. The server is the software to be installed in the biobank side while the client is a web application that queries all the biobanks in the federation and exposes the query results in a very friendly way through a pre-configured […]

DNAdigest interviews DNA.Land

Interview with Dr Yaniv Erlich, Assistant Professor of Computer Science at Columbia University and Core Member of New York Genome Center about one of his projects; DNA.Land 1) What is DNA.Land? DNA.Land is a website where people can upload their genome, contribute their data to science, and learn more about themselves. The idea of this project is that in order to realise the promise of precision medicine you need to analyse a large number of samples, genomes and phenomes. It takes a lot of resources to collect this kind of data, but we already have 2-3 million people here in the US who have access to their digitised genomes (23andme and Ancestry each have more than one million samples, Family Tree DNA has several hundred of thousands). With this number of people, you do not want to start everything from scratch, but you can try to reach out to them and ask if they would like to donate their data to science. 2) What is your background and your role in the project? I am a computational biologist by training. I received my PhD in genomics and bioinformatics from Watson School of Biological Sciences at the Cold Spring Harbor Laboratory […]

DNAdigest interviews Steven Keating: scientist and patient

Today we are talking to Steven Keating about his journey as a scientist and patient. Photo credit: Paula Aguilera and Jonathan Williams What is your background? I’m just a curious fellow trying to stay alive! Grew up in Canada (huge fan of maple syrup, snowballs, and I’m sorry if I apologize too much) and currently finishing a graduate program in mechanical engineering and synthetic biology in the USA. More details here if interested. How did your medical data journey start? I have always been curious about the world and I often participate in various research studies (which I highly recommend, check out the bulletin boards at a local university as they are always in need of volunteers). In 2007, I participated in a research MRI brain scan and asked to see the data afterwards. The scan showed a small abnormality, though I did not have any symptoms and it wasn’t clear what it was. Follow-up scans by neurologists in 2007 and 2010 did not show significant changes, so I went about my life. In the summer of 2014, I started to smell a faint vinegar smell for a few seconds a day. I went back to the data from 2007 […]

DNAdigest interviews Patients Know Best

Dr Mohammad Al-Ubaydli is the founder and CEO of Patients Know Best, an organisation that moves the data custodianship into the hands of the patients, to facilitate data sharing and data access between the patient and the clinicians or service providers. We interviewed Mohammad about his views of data sharing in the domain of genetics research and he gave a number of examples of how data sharing is a multi-faceted problem, and several aspects of the problem are not often discussed. What is your background? I’m a physician and programmer from Cambridge – I wrote six books about IT in health care, two of which explain how to share medical records with patients – and I’m a patient with a rare disease. Because of my interest in patients understanding their records and thus their health I started Patients Know Best, a social enterprise that puts patients in control of their data. It is currently used by over 100 customers across 8 different countries, including one customer rolling this out for over 1 million patients’ records. “Data sharing for medical research is a good thing” – or not? What is your take? I think making data available for medical research is […]

DNAdigest interviews CareAcross

Thanos Kosmidis, a technology and business professional, joined forces with his father, Paris Kosmidis, a medical oncologist with 40 years of clinical experience, to start CareAcross to help patients with cancer and their relatives. What is CareAcross and what is its mission? CareAcross is a digital health company focusing on cancer. Our mission is to support people affected by cancer through credible information, useful tools, psychological support & guidance from experts. Our vision is to facilitate faster, more effective oncology research, and interactions that will improve quality of life of patients and caregivers. We do this through our online platform for patients and caregivers. How and when did it start? What science/research is behind CareAcross? started in the fall of 2013, when we began putting together a first prototype of an online service for cancer patients and their loved ones. This was after 18 months of research into their “pains, needs and wants”, and the corresponding gaps. Throughout, we have interviewed hundreds of patients and caregivers, and have had roundtables with dozens of healthcare professionals with experience in oncology. These experts continue to be the driving force behind the scientific direction of the company, shaping how we inform, educate and […]

Highlights of 2015: Interviews

2015 was a great year for DNAdigest! We organised more events, welcomed more volunteers to the team and increased our output of online communications and blog generation! It has been a joy to watch our followers and online community grow with us and as we approach Christmas and the end of the year, we want to dedicate this blog post to looking back over 2015 and celebrate the achievements we made together!   Interviews: March – DNAdigest Interviews Genomic Medicine Alliance (Part 1 and 2) We included this in our 2015 overview because our Genomic Medicine Alliance (GMA) interview was the only one that spread over 2 parts and formed the most in-depth interview of the year. In part 1, we caught up with Professor George P. Patrinos, a member of the Scientific Advisory Committee for the GMA and he explains what GMA is, how to join and the benefits of doing so. In part 2, George discusses his role and explains the 7 different working groups within the GMA; Genomic Informatics, Pharmacogenomics, Cancer Genomics, Rare Diseases and Drug Outcomes, Public Health Genomics, Genethics and Economic Evaluation in Genomic Medicine. Read more . . . April – DNAdigest interviews GA4GH We included this interview into the 2015 […]

DNAdigest interviews UX developer from Repositive

Repositive is a social enterprise, building tools to facilitate ethical and efficient genomic data sharing for research. It was spun out of DNAdigest in late 2014. Today we interview Jana Grajciarova, a UX/UI developer of Repositive and find out how user experience studies affect how Repositive is shaping its data discovery and data sharing platform. 1. What is your background? Where did you study and work before? Before I came to UK I studied wooden products and structures at the Technical University of Zvolen in Slovakia. Basically, I learned how to design wooden houses. I find the skills that I learnt there useful for my current web developer’s work when I am doing drawings, sketches, and wireframes. Unfortunately, it turned out to be impossible to find a decent job just with these skills, so I decided to study further. I went to study graphic design at Bedford college. After that I did an internship for a digital marketing company in Bedford. I found that marketing was nothing for me (cultural differences?) but I was fascinated by programming i.e. how you can tell a computer what to do. So, I educated myself in HTML, CSS, and JavaScript and found a job in London. There […]

DNAdigest Interviews EMC

EMC is a global tech organisation renowned for storage and management of big data. With VMware and Pivotal, EMC has moved from storage to virtualisation to app development. And for the last 5 years EMC has developed a new business vertical focused on life sciences. John Gurnett is a member of the global life sciences group at EMC where he works closely with EMC customers to understand how to make EMC products applicable across healthcare and life sciences. In his daily work John works with policy makers from hospitals, clinicians, CEOs from partnering companies, financial controllers and researchers across the board addressing challenges in research and healthcare. One of the main questions that John works on currently is how the DNA sequencing technology can be utilised in a clinical environment. The full impact of the technology will not be realised until its usage is made mainstream. And one of the hurdles to progress is the lack of ‘digitisation’ of the healthcare system. JG: “From this point you cannot do healthcare without IT – We need to digitise everything” The perennial challenge/opportunity is trapping, storing and using data. The countries outside of the US still need to shift to Electronic Health Records (EHR) […]

DNAdigest interviews OpenSNP

In September we featured a guest post from Bastian Greshake on how Open Science helped him advance his career. This blog post was in conjunction with the Winnower Writing Competition., an initiative designed to prove the benefits of data sharing and collaboration and how it can help researchers advance in their careers. We caught up with Bastian and interviewed him on openSNP, a public platform developed to give people a chance to donate their personal genetic data and his current challenges, explaining privacy concerns to the general public and the future of openSNP. 1. What is OpenSNP? (i.e. What does it do? Who is the target audience? Who can use it and how? What is it good for?) The elevator pitch is: openSNP is a platform that gives people a chance to donate their personal genetic data into the public domain, alongside with phenotypic annotations. Citizen scientists, educators and everyone else can then access the data and use it for their ends. So we are targeting two audiences at the same time. On the one hand we want people to share their data and hopefully learn something useful in the process, on the other hand we want people to re-use the data for interesting projects. For the first group, […]

DNAdigest interviews Intel

Big Data Solutions is the leading big data initiative of Intel that aims to empower business with the tools, technologies, software and hardware for managing big data. Big Data solutions is at the forefront of big data analytics and today we talk to Bob Rogers, Chief Data Scientist, about his role, big data for genomics and his contributions to the BioData World Congress 2015. 1.What is your background and your current role? Chief Data Scientist for Big Data Solutions. My mission is to put powerful analytics tools in the hands of every business decision maker. My responsibility is to ensure that Intel is leading in big data analytics in the areas of empowerment, efficiency, education and technology roadmap. I help customers ask the right questions to ensure that they are successful with their big data analytics initiatives. I began with a PhD in physics. During my postdoc, I got interested in artificial neural networks, which are systems that compute the way the brain computes. I co-wrote a book on time series forecasting using artifical neural networks that resulted in a number of people asking me if I could forecast the stock market. I ended up forming a quantitative futures fund with three other […]

DNAdigest interviews Biopeer

Biopeer is a data sharing tool for small- to medium-scale collaborative sequencing efforts and begun its journey from a group of senior students from Bilkent University, Turkey. Today, DNAdigest interviews Can Alkan, an Assistant Professor in the Department of Computer Engineering at the Bilkent University and one of the minds behind Biopeer. 1. Please introduce yourself; what is your background, position? I am an Assistant Professor in the Department of Computer Engineering at the Bilkent University, Ankara, Turkey. I’m a computer scientist by training, I finished my PhD at Case Western Reserve University, where I worked on algorithms on the analysis of centromere evolution, and then RNA folding and RNA-RNA interactions. Later, I did a lengthy postdoc at the Genome Sciences Department of the University of Washington. I was lucky during my postdoc, that the next generation sequencing started a few months after I joined UW, and suddenly I found myself in many large scale sequencing projects such as the 1000 Genomes Project. Since NGS was entirely new, we needed to develop many novel algorithms to analyze the data. Together with my colleagues I developed read mappers (mrFAST/mrsFAST) specifically for segmental duplication analysis, which we used to generate the first personalized segmental duplication and copy number polymorphism […]

DNAdigest interviews Open PHACTS

Open PHACTS is a member funded project looking to make life science data more easily accessible and interoperable to reduce barriers to research. Today, we interview Nick Lynch from Open PHACTS about the project and the Open PHACTS Foundation.  1. What is the Open PHACTS Foundation? What does it do? What are its goals and missions?  The Open PHACTS Foundation is a charity supported by paying members, it was established to sustain Open PHACTS once the original funded project ends. Our mission is the same as the Open PHACTS project: making life science data more easily accessible and interoperable to reduce barriers to research. More specifically our aim as a charity is, “The advancement of science for the public benefit through the sharing of knowledge and data in relation to life science and biomedical research,” and in practice we do this by sustaining and developing the Open PHACTS Discovery Platform. 2. Could you introduce us to the Open PHACTS Discovery Platform? How did the idea of it arise? When was it built? How do you plan to further improve it?   A major challenge to drug discovery and many other kinds of life science research, is the fact that a lot of the […]

DNAdigest interviews The Hyve

The Hyve is a 30 person open source bioinformatics services company from Utrecht, Netherlands, and Cambridge, MA, USA. Not so long ago, we invited them to write a blog post on Open Source Technologies for Precision Medicine. Today, DNAdigest interviews Kees van Bochove, the CEO of The Hyve. 1. Could you give us a short introduction on The Hyve? The Hyve is a small but fast growing global company that is specialised in professional support for open source software for bioinformatics, clinical and translational research. The company headquarters is in Utrecht, The Netherlands and we have a satellite office in Boston, USA, at Cambridge Innovation Center. The team (currently about 30 people) consists of a mix of bioinformaticians, software developers, clinicians, statisticians and project managers. 2. What is your background, interests and the role in the organisation?  My education is in computer science and bioinformatics, but I’ve always had a broad interest. Next to my computer science education I also graduated in primary school education, and I occasionally perform as a classical music singer: I recorded a CD with Schubert’s Lieder and I sometimes sing Bach cantata solos. I have taken an interest in biology and later medicine and I […]

DNAdigest interviews ELIXIR

This week we are interviewing Niklas Blomberg from the ELIXIR project. 1. Please provide a short introduction to the work of ELIXIR? What are the aims and the mission of the project? ELIXIR is Europe’s response to the challenges of big data in life science research. Over the recent years, the amount of data produced by life science experiments increased exponentially and it has been estimated that by 2020 these data will be generated at up to one million times the current rate. ELIXIR’s goal is to orchestrate the collection, quality control and archiving of these data across Europe. For the first time, ELIXIR is creating an infrastructure that integrates research data from all corners of Europe and ensures a seamless service provision that is easily accessible to all.  ELIXIR’s services – biological data resources, tools, infrastructure, standards, compute and training – will benefit not only bioinformaticians and computational biologists, but also geneticists, biochemists, clinical specialists, and plant, environmental and marine scientists, both in academia and industry. 2. What does ELIXIR’s structure and legal framework look like? Rather than concentrating all of the expertise and resources in one place, ELIXIR has a distributed structure based on a hub and nodes […]

DNAdigest interviews the open study “Genes for Good”

Scott Vrieze, External Collaborator at Genes for Good 1. What is Genes for Good? Genes for Good is a research study led by Dr. Goncalo Abecasis at the University of Michigan, with the goal of discovering genes that affect risk for physical and mental health. Making these discoveries benefits from very large numbers of participants who are continually engaged with the study over time. To do this, we have created a Facebook App ( genesforgood) where individuals may sign up, answer questions about their health and habits, and provide a saliva sample. DNA in the saliva will then be genotyped and tested for association with the health information. This kind of study has been quite successful in finding risk genes for a wide variety of diseases, and Genes for Good will continue this tradition, hopefully on a larger scale with many tens of thousands of participants.   2. What is your role in the Genes for Good study and how does your professional background fit? Genes for Good is intended to be an open platform. Researchers who are interested in contributing can very easily do so. I am a clinical psychologist interested in mental health issues like depression, anxiety, and […]

DNAdigest interviews the Human Variome Project

We were deeply shocked and saddened to hear of the death of a real force for good in the world, Professor Richard Cotton. DNAdigest team would like to extend our most sincere condolences to his family and his colleagues who worked closely with him on the Human Variome Project. He was a great inspiration and huge encouragement to preserve our work for the common goal of sharing data. Only a couple of weeks ago we interviewed Professor Cotton about his work on the Human Variome Project and his passing away so suddenly came as a shock to the whole DNAdigest team. Read below Richard Cotton’s answers to the questions that we asked him. Professor Richard Cotton 1. Please provide a short introduction in the Human Variome Project (HVP). What are the mission and aims of the organisation? The Human Variome Project is a non-profit company registered in Australia. It has an international board and an international Scientific advisory committee. Chris Arnold is executive chairman and there are six scientific directors: Mike Watson (US), Garry Cutting (US), Johann den Dunnen (the Netherlands), Sir John Burn (UK), Finlay Macrae (Australia), and Ingrid Winship (Australia). It is inclusive and office bearers are elected. Sharing of […]

DNAdigest interviews GA4GH

This week I am extremely excited to introduce you to Julia Wilson, Associate Director at the Wellcome Trust Sanger Institute. In this interview Julia tells us more about the Global Alliance for Genomics and Health (GA4GH), the current projects and working groups, the recently published first Road Map and the 3rd GA4GH plenary meeting in June that we all are so excited about. Julia Wilson, Associate Director at the Wellcome Trust Sanger Institute Could you please give a short introduction to the Global Alliance for Genomics and Health? The Global Alliance for Genomics and Health (Global Alliance) was formed less than two years ago when key players in the field of genomics came together to discuss how we could help accelerate the use the potential of genomics to advance human health. Since then the Global Alliance brings together almost 300 institutions from 30 different countries. Member institutions are very varied and include those working in research, healthcare delivery, disease advocacy, and information technology. It is pretty unique being a mix of academic and commercial partners. The partners in the Global Alliance are working together to enable genomic data sharing. This involves developing new software and creating a framework of harmonized approaches for the responsible, voluntary, […]

DNAdigest interviews Transcriptomine

This week I would like to introduce you to Dr Neil McKenna who is a principal investigator of the Nuclear Receptor Signaling Atlas consortium. In the following A&Q session you will learn about the tool Transcriptomine which gives the research community ready access to transcriptomic datasets – some background, future plans for improvement as well as step-by-step process for you to start using it for your research. Dr Neil McKenna, principal investigator of the Nuclear Receptor Signaling Atlas consortium 1. Could you please give us an introduction to Transcriptomine? Eukaryotic signal transduction involves small extracellular signaling molecules (ESMs) – hormones and growth factors, for example – and transcription factors (TFs), which bind DNA and regulate the expression of target genes. Transcriptomine is an effort to compile, organize and consistently annotate transcriptomic datasets involving ESMs or TFs, and to expose these to the research community so that they can make more effective use of them for their research. 2. What is your role in the project and how does you background support it? Transcriptomine draws together the talents of a scientific curation and annotation team, with a strong background in signal transduction research, and a web development and information technology team. Financial support for Transcriptomine is […]

DNAdigest interviews COS

DNAdigest readers, this week I am happy to present you to the Centre for Open Science (COS). Our interviewee is Tim Errington, who is the project manager of the Reproducibility Project: Cancer Biology, part of COS. Take a look at what exactly this non-profit technology company is all about and how it will improve research practices. Tim Errington, Project Manager of the Reproducibility Project: Cancer Biology 1. You are a part of the Centre for Open Science team. Please, tell us what the mission and the interests of the company are? Our mission is to increase the openness, integrity, and reproducibility of scientific research.  We support shifting incentives and practices to align more closely with scientific values. We work on this through three main activities: metascience activities to research scientific practices, community activities to foster open science, and providing infrastructure support through the Open Science Framework (OSF). 2. Why do you think OPENNESS, INTEGRITY and REPRODUCIBILITY of scientific research are of such a great importance for the community? Openness and reproducibility are core scientific values. They refer to increasing transparency of research data, methods, materials, and workflow, and to increase inclusivity so that everyone has opportunity to access and contribute to […]

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 Genomic Medicine Alliance – Part 1

As the year goes over, so does our full schedule with interviews. This week, we would like to introduce you to Professor George P. Patrinos. As a member of the Scientific Advisory Committee of the Genomic Medicine Alliance (GMA) he introduced us to the background and workings of the GMA. 1. Could you please give us a short introduction to the Genomic Medicine Alliance (goals, interests, mission)? The Genomic Medicine Alliance (GMA) is a global academic research network. It aims to build and strengthen collaborative ties between academics, researchers, regulators and those members of the general public who are interested in genomic medicine. The GMA focuses particularly on the translation of new research findings into clinical practice in developed, but most importantly, in developing countries. The GMA aims to: Encourage and catalyze multidisciplinary collaborative research between partner institutions and scientists, particularly from developing countries, Liaise between research organizations, clinical entities and regulatory agencies in areas related to genomic medicine, Facilitate the introduction of pharmacogenomics and advanced omics technologies into mainstream clinical practice, Propose guidelines and draw up recommendations in all areas pertaining to genomic medicine, in close collaboration with other scientific academic entities, agencies and regulatory bodies, and, Develop independently and coordinate, in close […]

DNAdigest interviews Free the Data – Part 2

As promised last week, we are publishing the second part of the so intriguing interview with Sharon Terry on the Free the Data Project. Last week you learned about the aims and goals of the project and what Sharon did to support and launch it. What about the future plans? Here it is, enjoy every bit of the interview as well as all the interesting video. Did you miss the first part of the interview? Read the first part of the interview with FreeTheData Sharon F. Terry, President and CEO of Genetic Alliance 4. Who is the intended audience for your campaign and how are you reaching out to them? Free the Data’s target audience is ultimately the public. As we move into an era of genomic medicine, it’s essential that we pool as many of our resources as possible to understand genetic variation and its effect on human health – and who has more information to offer than the men and women who have these mutations? It’s important to me that consumers understand the value of shared genetic data, and that they have the tools they need to share their data if they choose… whether this means simply knowing that a […]

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 […]

DNAdigest Interviews Saudi Human Genome Project

DNAdigest readers, this week I am happy to present you to the Saudi Human Genome Project (SHGP). Our interviewee is Shazia Naz Subhani, who is the project manager. Take a look at what exactly this interesting project is all about and how this will benefit the healthcare system in the Saudi Arabia Kingdom. Shazia Naz Subhani, Senior Technical Specialist and Project Manager of the Saudi Human Genome Program 1. Could you please explain what the Saudi Human Genome Project is about? The Saudi Human Genome Projects is a specific effort to solve genetic disease in the Kingdom, to lay the foundation for the development of Personalized Medicine and establish capacity for the Genomics industry more broadly. This is envisioned as a 5 year project to find the genes responsible for the genetic diseases that impact the Kingdom, by reading (often called “sequencing”) the genomes of 100,000 subjects, representing both the general population, and all rare and common diseases with a genetic component. This will be one of the largest disease gene discovery project ever undertaken, and will therefore also establish the Kingdom as a world leader in disease genetics research and Personalized Medicine. This project will be funded and organized by the King […]

DNAdigest interviews Xpressomics

This week I would like to introduce you to Hendrik Luuk, co-founder and CTO of Xpressomics. He kindly agreed to answer some questions for our post blog series and here it is – first hand information on Xpressomics. Keep reading to find out more about this company and their brand new gene expression search engine. Hendrik Luuk, CTO and Co-founder 1. Could you please give us a short introduction of Xpressomics (goals, interests, mission)? The company was established in order to make gene expression analytics accessible to the majority of life scientists. Our goal is to re-analyze and index tens of thousands of publicly available datasets and offer a search engine to navigate the results. Our interest really is to enable scientists to reinterpret their results in the light of all other experiments ever made. So far you essentially had to perform text search of indexed pdf-s to find what had been published about your gene of interest. With the gene expression search engine, you can easily query one or more genes to identify experimental conditions where they are differentially expressed. It is about connecting the dots between unrelated data sets to gain insight on gene function and regulation. 2. […]

DNAdigest interviews Nowomics

This week I would like to introduce you to Richard Smith, founder and software developer of Nowomics. He kindly agreed to answer some questions for our post blog series and here it is – first hand information on Nowomics. Keep reading to find out more about this company.   Richard Smith, founder and software developer of Nowomics 1. Could you please give us a short introduction to Nowomics (goals, interests, mission)? Nowomics is a free website to help life scientists keep up with the latest papers and data relevant to their research. It lets researchers ‘follow’ genes and keywords to build their own news feed of what’s new and popular in their field. The aim is to help scientists discover the most useful information and avoid missing important journal articles, but without spending a lot of their time searching websites. 2. What makes Nowomics unique? Nowomics tracks new papers, but also other sources of curated biological annotation and experimental data. It can tell you if a gene you work on has new annotation added or has been linked to a disease in a recent study. The aim is to build knowledge of these biological relationships into the software to help scientists navigate and discover information, rather than recommending papers […]

DNAdigest interviews NGS logistics

NGS logistics is the next project featured in our blog interviews. We have interviewed Amin Ardeshirdavani who is a PhD student involved in the creation of this web-based application. Take a look at the interview to find why this tool has become very popular within KU Leuven. Amin Ardeshirdavani 1. What is NGS logistics? NGS-Logistics is a web-based application, which accelerates the federated analysis of Next Generation Sequencing data across different centres. NGS-Logistics acts as a real logistics company: you order something from the Internet; the owner processes your request and then ships it through a safe and trustful logistics company. In this of NGS-Logistics, the goods are human sequence data and researchers ask for possible variations and their frequency among the whole population. We try to deliver the answers in the fastest and safest possible way. 2. What is your part in NGS logistics? Right now I am a PhD student at KU Leuven and the whole idea of my PhD project is designing and developing new data structures for analysing of massive amount of data produced by Next Generation Sequencing machines. NGS logistics is exactly that. I have done the whole design and development of the application and database. Hereby I […]

Cambridge news: interview with Adrian Alexa

As you may already know, DNAdigest has recently spun-out Repositive (formerly knows as Nucleobase),  the social enterprise to develop Open Source software tools for researchers. Not long ago, Adrian Alexa, our CTO,  gave an interview for Cambridge News explaining more in depth what lays behind the idea of Repositive. Take a look: That bit in Jurassic Park where Dickie Attenborough explains about Dinosaur DNA (“and bingo… Dino DNA!”) – and then the insect rolls down the tree covered in sap – is, sadly, the total extent of many people’s knowledge of genomic data. You won’t be shocked to hear that there’s quite a lot more to it and, as usual, Cambridge is leading the way. Repositive Ltd (a social enterprise and part of the Social Incubator East programme) is a spin-out of the Cambridge-based charity DNAdigest, fronted by founder Fiona Nielsen and her colleague Adrian Alexa who are both former employees of Illumina (the world leaders in genomic research with a UK office in Saffron Walden). Their mission statement is to ‘empower efficient access and the sharing of genomic data’. Adrian explains: The current practice for sharing and accessing genomic data is very poor. Typically, when a clinic sequences an individual, they will […]

DNAdigest interviews SolveBio

DNAdigest continues with the series of interviews. Here we would like to introduce you to Mr Mark Kaganovich, CEO of SolveBio, who agreed on an interview with us. He shared a lot about what SolveBio does and discussed with us the importance of genomic data sharing. Mark Kaganovich, CEO of SolveBio Could you describe what SolveBio does? SolveBio delivers the critical reference data used by hospitals and companies to run genomic applications. These applications use SolveBio’s data to predict the effects of slight DNA variants on a person’s health. SolveBio has designed a secure platform for the robust delivery of complex reference datasets. We make the data easy to access so that our customers can focus on building clinical grade molecular diagnostics applications, faster.   How did you come up with the idea of building a system that integrates genomic reference data into diagnostic and research applications? And what was the crucial moment when you realised the importance of creating it? As a graduate student I spent a lot of time parsing, re-formatting, and integrating data just to answer some basic questions in genomics. At the same time (this was about two years ago) it was becoming clear that genomics was going […]

DNAdigest interviews Aridhia

As promised last week in the DNAdigest’s newsletter, we are giving life to our first blog post interview. Be introduced to Mr Rodrigo Barnes, part of the Aridia team. He kindly agreed to answer our questions about Aridhia and their views on genomic data sharing.  Mr Rodrigo Barnes, CTO of Aridhia 1. You are a part of the Aridhia team. Please, tell us what the goals and the interests of the company are? Aridhia started with the objective of using health informatics and analytics to improve efficiency and service delivery for healthcare providers, support the management of chronic disease and personalised medicine, and ultimately improve patient outcomes. Good outcomes had already started to emerge in diabetes and other chronic diseases, through some of the work undertaken by the NHS in Scotland and led by one of our founders, Professor Andrew Morris. This included providing clinicians and patients with access to up-to-date, rich information from different parts of the health system. Aridhia has since developed new products and services to solve informatics challenges in the clinical and operational aspects of health. As a commercial organisation, we have worked on these opportunities in collaboration with healthcare providers, universities, innovation centres and other […]

Fiona emphasising the importance of data sharing.

DNAdigest: Start Up of The week

DNA Digest CEO Fiona Nielsen has been interviewed by Maneesh Juneja for his first ‘Start Up of The Week’ post. You can read the full interview here to find out what the future holds for DNAdigest. It was a huge honour to be selected by Maneesh, who is a ‘big thinker’ in science and healthcare, speaking at prestigious events such as TEDx StPeterPort. You can watch that very talk on digital health technologies here. Why not take a look at his TEDxO’Porto 2013 talk as well. Thanks to Maneesh for the interview. Make sure you explore the rest of his blog!