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 […]

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 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 […]

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!